Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

SVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan

(2021) Alyssa E. Johnson et al.   Nature Communications

C9orf72 associates with inactive Rag GTPases and regulates mTORC1‐mediated autophagosomal and lysosomal biogenesis

(2020) Mingmei Wang et al.   AGING CELL

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

(2020) Manon Boivin et al.   EMBO JOURNAL

Patho-mechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus through the Lens of Autophagy

(2020) Rebecca L. Casterton et al.   JOURNAL OF MOLECULAR BIOLOGY

Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia

(2020) Carolin Heller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Promoting tau secretion and propagation by hyperactive p300/CBP via autophagy-lysosomal pathway in tauopathy

(2020) Xu Chen et al.   Molecular Neurodegeneration

mTOR at the nexus of nutrition, growth, ageing and disease

(2020) Grace Y. Liu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The process of Lewy body formation, rather than simply α-synuclein fibrillization, is one of the major drivers of neurodegeneration

(2020) Anne-Laure Mahul-Mellier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chaperone Mediated Autophagy Degrades TDP-43 Protein and Is Affected by TDP-43 Aggregation

(2020) Fernando Ormeño et al.   Frontiers in Molecular Neuroscience

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2020) Yevgeniya A. Abramzon et al.   Frontiers in Neuroscience

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

(2020) Masin Abo-Rady et al.   Stem Cell Reports

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression

(2020) Camila Pará et al.   Journal of Clinical Medicine

Chloroquine and bafilomycin A mimic lysosomal storage disorders and impair mTORC1 signalling

(2020) Anthony O. Fedele et al.   BIOSCIENCE REPORTS

The multifaceted role of kinases in amyotrophic lateral sclerosis: genetic, pathological and therapeutic implications

(2020) Wenting Guo et al.   BRAIN

Cerebrospinal Fluid YKL-40 and Chitotriosidase Levels in Frontotemporal Dementia Vary by Clinical, Genetic and Pathological Subtype

(2020) Ione O.C. Woollacott et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

(2020) Frédéric Darios et al.   JOURNAL OF MOLECULAR BIOLOGY

Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia

(2020) Emma L van der Ende et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Rare Variants in Specific Lysosomal Genes Are Associated with Parkinson's Disease

(2020) Franziska Hopfner et al.   MOVEMENT DISORDERS

C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

(2020) Aaron Burberry et al.   NATURE

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

Mechanisms, regulation and functions of the unfolded protein response

(2020) Claudio Hetz et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Optical induction of autophagy via Transcription factor EB (TFEB) reduces pathological tau in neurons

(2020) Jessica L. Binder et al.   PLoS One

Cryo-EM structure of C9ORF72–SMCR8–WDR41 reveals the role as a GAP for Rab8a and Rab11a

(2020) Dan Tang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The FTLD Risk Factor TMEM106B Regulates the Transport of Lysosomes at the Axon Initial Segment of Motoneurons

(2020) Patrick Lüningschrör et al.   Cell Reports

Progress and Challenges in the Use of MAP1LC3 as a Legitimate Marker for Measuring Dynamic Autophagy In Vivo

(2020) Srinivasa Reddy Bonam et al.   Cells

Loss of TMEM 106B and PGRN leads to severe lysosomal abnormalities and neurodegeneration in mice

(2020) Tuancheng Feng et al.   EMBO REPORTS

Loss of Tmem106b exacerbates FTLD pathologies and causes motor deficits in progranulin‐deficient mice

(2020) Xiaolai Zhou et al.   EMBO REPORTS

Neuroprotective activity of ursodeoxycholic acid in CHMP2B models of frontotemporal dementia

(2020) Ryan J.H. West et al.   NEUROBIOLOGY OF DISEASE

Lysosomal recycling of amino acids affects ER quality control

(2020) Ryo Higuchi-Sanabria et al.   Science Advances

Loss of TMEM 106B potentiates lysosomal and FTLD ‐like pathology in progranulin‐deficient mice

(2020) Georg Werner et al.   EMBO REPORTS

Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD

(2020) Ming-Yuan Su et al.   NATURE

C9orf72 in myeloid cells suppresses STING-induced inflammation

(2020) Madelyn E. McCauley et al.   NATURE

Neurotoxic microglia promote TDP-43 proteinopathy in progranulin deficiency

(2020) Jiasheng Zhang et al.   NATURE

Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau

(2020) Nabil F. Darwich et al.   SCIENCE

Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations

(2020) Meixiang Huang et al.   Acta Neuropathologica Communications

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

(2020) Ryoichi Nakamura et al.   Communications Biology

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

(2019) Khalid Arhzaouy et al.   Autophagy

C9orf72 deficiency promotes motor deficits of a C9ALS/FTD mouse model in a dose-dependent manner

(2019) Qiang Shao et al.   Acta Neuropathologica Communications

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis

(2019) Archana Prasad et al.   Frontiers in Molecular Neuroscience

A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy

(2019) Israel Hernandez et al.   Science Translational Medicine

The proteostasis network and its decline in ageing

(2019) Mark S. Hipp et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification

(2019) Mümine Şentürk et al.   NATURE CELL BIOLOGY

Neuronal ceroid lipofuscinosis type-11 in an adolescent

(2019) Mahesh Kamate et al.   BRAIN & DEVELOPMENT

BAG3 and SYNPO (synaptopodin) facilitate phospho-MAPT/Tau degradation via autophagy in neuronal processes

(2019) Changyi Ji et al.   Autophagy

The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy

(2019) Wan Yun Ho et al.   Autophagy

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

(2019) Peter T Nelson et al.   BRAIN

An update on genetic frontotemporal dementia

(2019) Caroline V. Greaves et al.   JOURNAL OF NEUROLOGY

Genetics of amyotrophic lateral sclerosis: A review

(2019) Stéphane Mathis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response

(2019) Peng Wang et al.   PLoS Genetics

MAPT/Tau accumulation represses autophagy flux by disrupting IST1-regulated ESCRT-III complex formation: a vicious cycle in Alzheimer neurodegeneration

(2019) Qiong Feng et al.   Autophagy

Epidemiology of amyotrophic lateral sclerosis

(2019) Elisa Longinetti et al.   CURRENT OPINION IN NEUROLOGY

Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes

(2019) Sarah H. Shahmoradian et al.   NATURE NEUROSCIENCE

Preserving Lysosomal Function in the Aging Brain: Insights from Neurodegeneration

(2019) Wesley Peng et al.   Neurotherapeutics

Progranulin deficiency leads to reduced glucocerebrosidase activity

(2019) Xiaolai Zhou et al.   PLoS One

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

(2019) Alfredo Iacoangeli et al.   Acta Neuropathologica Communications

Putative risk alleles for LATE‐NC with hippocampal sclerosis in population‐representative autopsy cohorts

(2019) Suvi R. K. Hokkanen et al.   BRAIN PATHOLOGY

Lysosomes as a therapeutic target

(2019) Srinivasa Reddy Bonam et al.   NATURE REVIEWS DRUG DISCOVERY

Lysosome Fission: Planning for an Exit

(2019) Golam T. Saffi et al.   TRENDS IN CELL BIOLOGY

Age- and stress-associated C. elegans granulins impair lysosomal function and induce a compensatory HLH-30/TFEB transcriptional response

(2019) Victoria J. Butler et al.   PLoS Genetics

Pleiotropic Effects of mTOR and Autophagy During Development and Aging

(2019) Kathrin Schmeisser et al.   Frontiers in Cell and Developmental Biology

RNA toxicity in non‐coding repeat expansion disorders

(2019) Bart Swinnen et al.   EMBO JOURNAL

Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity

(2019) Clarissa Valdez et al.   HUMAN MOLECULAR GENETICS

Compromised function of the ESCRT pathway promotes endolysosomal escape of tau seeds and propagation of tau aggregation

(2019) John J. Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomes as dynamic regulators of cell and organismal homeostasis

(2019) Andrea Ballabio et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Non-genetically modified models exhibit TARDBP mRNA increase due to perturbed TDP-43 autoregulation

(2019) Akihiro Sugai et al.   NEUROBIOLOGY OF DISEASE

CDD/SPARCLE: the conserved domain database in 2020

(2019) Shennan Lu et al.   NUCLEIC ACIDS RESEARCH

Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72

(2019) Carl Laflamme et al.   eLife

C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis

(2019) Qiang Shao et al.   Autophagy

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

(2019) Vincent Huin et al.   BRAIN

PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation

(2019) Joseph Amick et al.   JOURNAL OF CELL BIOLOGY

Autophagy Induction as a Therapeutic Strategy for Neurodegenerative Diseases

(2019) Alvin Djajadikerta et al.   JOURNAL OF MOLECULAR BIOLOGY

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

(2019) Katrina M Moore et al.   LANCET NEUROLOGY

Multisystem Proteinopathy Mutations in VCP/p97 Increase NPLOC4·UFD1L Binding and Substrate Processing

(2019) Emily E. Blythe et al.   STRUCTURE

The MAPT H1 Haplotype Is a Risk Factor for Alzheimer’s Disease in APOE ε4 Non-carriers

(2019) Pascual Sánchez-Juan et al.   Frontiers in Aging Neuroscience

Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo

(2019) King Faisal Yambire et al.   eLife

ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

(2019) Rita Mejzini et al.   Frontiers in Neuroscience

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

(2019) Andrew E. Arrant et al.   Acta Neuropathologica Communications

The lysosomal function of progranulin, a guardian against neurodegeneration

(2018) Daniel H. Paushter et al.   ACTA NEUROPATHOLOGICA

A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis

(2018) Anna Corrionero et al.   CURRENT BIOLOGY

TDP-43 controls lysosomal pathways thereby determining its own clearance and cytotoxicity

(2018) Christine Leibiger et al.   HUMAN MOLECULAR GENETICS

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation

(2018) Maria Teresa Fiorenza et al.   HUMAN MOLECULAR GENETICS

Antisense oligonucleotides extend survival and reverse decrement in muscle response in ALS models

(2018) Alex McCampbell et al.   JOURNAL OF CLINICAL INVESTIGATION

Pathomechanisms of TDP-43 in neurodegeneration

(2018) Ju Gao et al.   JOURNAL OF NEUROCHEMISTRY

WDR41 Supports Lysosomal Response to Changes in Amino Acid Availability

(2018) Joseph Amick et al.   MOLECULAR BIOLOGY OF THE CELL

VCP/p97-Mediated Unfolding as a Principle in Protein Homeostasis and Signaling

(2018) Johannes van den Boom et al.   MOLECULAR CELL

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency

(2018) Andrew E. Arrant et al.   Molecular Neurodegeneration

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

(2018) Matthew A. White et al.   NATURE NEUROSCIENCE

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

(2018) Ching-Chieh Chou et al.   NATURE NEUROSCIENCE

Mechanism and medical implications of mammalian autophagy

(2018) Ivan Dikic et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

(2018) Dario Saracino et al.   NEUROBIOLOGY OF AGING

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

(2018) Daniela Galimberti et al.   NEUROBIOLOGY OF AGING

Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation

(2018) N. Kreiter et al.   NEUROBIOLOGY OF DISEASE

Lysosome trafficking and signaling in health and neurodegenerative diseases

(2018) Pearl P.Y. Lie et al.   NEUROBIOLOGY OF DISEASE

The role of lysosomes and autophagosomes in frontotemporal lobar degeneration

(2018) H. D. C. Bain et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay

(2018) Andrew D. Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS Genes in the Genomic Era and their Implications for FTD

(2018) Hung Phuoc Nguyen et al.   TRENDS IN GENETICS

TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons

(2018) Miriam A. Vogt et al.   Scientific Reports

TDP-43 regulation of stress granule dynamics in neurodegenerative disease-relevant cell types

(2018) Yousra Khalfallah et al.   Scientific Reports

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

(2018) Celeste M. Karch et al.   JAMA Neurology

Robustness and Vulnerability of the Autoregulatory System That Maintains Nuclear TDP-43 Levels: A Trade-off Hypothesis for ALS Pathology Based on in Silico Data

(2018) Akihiro Sugai et al.   Frontiers in Neuroscience

An Overview of the Role of Lipofuscin in Age-Related Neurodegeneration

(2018) Alexandra Moreno-García et al.   Frontiers in Neuroscience

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

(2018) Alexandra M. Nicholson et al.   Acta Neuropathologica Communications

Estimating the Age of the Most Common Italian GRN Mutation: Walking Back to Canossa Times

(2018) Luisa Benussi et al.   JOURNAL OF ALZHEIMERS DISEASE

Three VCP Mutations in Patients with Frontotemporal Dementia

(2018) Tsz Hang Wong et al.   JOURNAL OF ALZHEIMERS DISEASE

Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice

(2018) Julia K. Götzl et al.   Molecular Neurodegeneration

Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing

(2018) Barry Boland et al.   NATURE REVIEWS DRUG DISCOVERY

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers

(2018) Arthur Viodé et al.   Frontiers in Neuroscience

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

(2018) Petra Frick et al.   Acta Neuropathologica Communications

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia

(2018) Ethan G. Geier et al.   ACTA NEUROPATHOLOGICA

The cargo receptor SQSTM1 ameliorates neurofibrillary tangle pathology and spreading through selective targeting of pathological MAPT (microtubule associated protein tau)

(2018) Yin Xu et al.   Autophagy

Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease

(2018) Yuehong Chen et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

(2018) Sara E Mole et al.   LANCET NEUROLOGY

TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates

(2018) Florent Laferrière et al.   NATURE NEUROSCIENCE

C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor

(2018) Shalini Iyer et al.   PeerJ

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

(2017) Cornelis Blauwendraat et al.   GENETICS IN MEDICINE

Genetic mutations in RNA-binding proteins and their roles in ALS

(2017) Katannya Kapeli et al.   HUMAN GENETICS

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

(2017) Clarissa Valdez et al.   HUMAN MOLECULAR GENETICS

Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo

(2017) Sander Beel et al.   HUMAN MOLECULAR GENETICS

Chaperone-mediated autophagy and endosomal microautophagy: Jointed by a chaperone

(2017) Kumsal Tekirdag et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progranulin deficiency causes impairment of autophagy and TDP-43 accumulation

(2017) Michael C. Chang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Autophagosome Maturation and Fusion

(2017) Fulvio Reggiori et al.   JOURNAL OF MOLECULAR BIOLOGY

Rab7A regulates tau secretion

(2017) Lilia Rodriguez et al.   JOURNAL OF NEUROCHEMISTRY

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The lysosomal protein cathepsin L is a progranulin protease

(2017) Chris W. Lee et al.   Molecular Neurodegeneration

Lysosomal processing of progranulin

(2017) Xiaolai Zhou et al.   Molecular Neurodegeneration

Synaptic activity protects against AD and FTD-like pathology via autophagic-lysosomal degradation

(2017) Y Akwa et al.   MOLECULAR PSYCHIATRY

Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities

(2017) Fiona M. Menzies et al.   NEURON

Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice

(2017) Zoe A. Klein et al.   NEURON

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

(2017) Michael E. Ward et al.   Science Translational Medicine

C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease

(2017) Joseph Amick et al.   TRAFFIC

Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders

(2017) Nicoletta Plotegher et al.   TRENDS IN MOLECULAR MEDICINE

Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases

(2017) Michael G. Erkkinen et al.   Cold Spring Harbor Perspectives in Biology

Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations

(2017) Xiaolai Zhou et al.   Nature Communications

Endocytosis regulates TDP-43 toxicity and turnover

(2017) Guangbo Liu et al.   Nature Communications

TDP-43 misexpression causes defects in dendritic growth

(2017) Josiah J. Herzog et al.   Scientific Reports

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

(2017) Bret M. Evers et al.   Cell Reports

Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator

(2017) Jennifer Jung et al.   eLife

Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis

(2017) Rachel H. Tan et al.   Acta Neuropathologica Communications

Elevated TMEM106B levels exaggerate lipofuscin accumulation and lysosomal dysfunction in aged mice with progranulin deficiency

(2017) Xiaolai Zhou et al.   Acta Neuropathologica Communications

What we know about TMEM106B in neurodegeneration

(2016) Alexandra M. Nicholson et al.   ACTA NEUROPATHOLOGICA

The Lysosome as a Regulatory Hub

(2016) Rushika M. Perera et al.   Annual Review of Cell and Developmental Biology

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

(2016) Daniel J Klionsky et al.   Autophagy

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2016) Shangxi Xiao et al.   BRAIN RESEARCH

The Prevalence and Incidence of Frontotemporal Dementia: a Systematic Review

(2016) David B. Hogan et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

(2016) Hansen Lui et al.   CELL

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy

(2016) Chrisovalantis Papadopoulos et al.   EMBO JOURNAL

A new phenotype associated with homozygousGRNmutations: complicated spastic paraplegia

(2016) I. Faber et al.   EUROPEAN JOURNAL OF NEUROLOGY

The Overexpression of TDP-43 Protein in the Neuron and Oligodendrocyte Cells Causes the Progressive Motor Neuron Degeneration in the SOD1 G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis

(2016) Yi Lu et al.   International Journal of Biological Sciences

The Lysosomal Trafficking Transmembrane Protein 106B Is Linked to Cell Death

(2016) Hiroaki Suzuki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The position of lysosomes within the cell determines their luminal pH

(2016) Danielle E. Johnson et al.   JOURNAL OF CELL BIOLOGY

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

(2016) Ian R. A. Mackenzie et al.   JOURNAL OF NEUROCHEMISTRY

Genetics of FTLD: overview and what else we can expect from genetic studies

(2016) Cyril Pottier et al.   JOURNAL OF NEUROCHEMISTRY

Amyotrophic lateral sclerosis: moving towards a new classification system

(2016) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

(2016) Joseph Amick et al.   MOLECULAR BIOLOGY OF THE CELL

mTOR controls lysosome tubulation and antigen presentation in macrophages and dendritic cells

(2016) Amra Saric et al.   MOLECULAR BIOLOGY OF THE CELL

PGRN Is Associated with Late-Onset Alzheimer’s Disease: a Case–Control Replication Study and Meta-analysis

(2016) Hui-Min Xu et al.   MOLECULAR NEUROBIOLOGY

Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia

(2016) Christopher J. Holler et al.   Molecular Neurodegeneration

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

A molecular mechanism to regulate lysosome motility for lysosome positioning and tubulation

(2016) Xinran Li et al.   NATURE CELL BIOLOGY

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation

(2016) Maria R. Almeida et al.   NEUROBIOLOGY OF AGING

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria

(2016) Benjamin Richter et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy

(2016) Andrew S. Moore et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

(2016) Aaron Burberry et al.   Science Translational Medicine

Breaking BAG: The Co-Chaperone BAG3 in Health and Disease

(2016) Christian Behl   TRENDS IN PHARMACOLOGICAL SCIENCES

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

(2016) M. Yang et al.   Science Advances

Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease

(2016) Jinlong Jian et al.   EBioMedicine

Association Between Progranulin and Gaucher Disease

(2016) Jinlong Jian et al.   EBioMedicine

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

(2016) Peter M. Sullivan et al.   Acta Neuropathologica Communications

Autophagic and lysosomal defects in human tauopathies: analysis of post-mortem brain from patients with familial Alzheimer disease, corticobasal degeneration and progressive supranuclear palsy

(2016) Antonio Piras et al.   Acta Neuropathologica Communications

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice

(2016) Amanda Atanasio et al.   Scientific Reports

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

(2015) Emma L. Clayton et al.   ACTA NEUROPATHOLOGICA

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

(2015) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

Lysosomal Physiology

(2015) Haoxing Xu et al.   Annual Review of Physiology

TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes

(2015) Rachel H. Tan et al.   BRAIN

Autophagy inhibitors

(2015) Benoit Pasquier   CELLULAR AND MOLECULAR LIFE SCIENCES

Longevity Pathways (mTOR, SIRT, Insulin/IGF-1) as Key Modulatory Targets on Aging and Neurodegeneration

(2015) Caio Mazucanti et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Absence of TDP-43 is difficult to digest

(2015) N. Skoko et al.   EMBO JOURNAL

Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin

(2015) Xiaolai Zhou et al.   JOURNAL OF CELL BIOLOGY

Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis

(2015) Yongdui Chen et al.   JOURNAL OF NEUROLOGY

Reassessment of Risk Genotypes (GRN,TMEM106B, andABCC9Variants) Associated With Hippocampal Sclerosis of Aging Pathology

(2015) Peter T. Nelson et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Compromised autophagy and neurodegenerative diseases

(2015) Fiona M. Menzies et al.   NATURE REVIEWS NEUROSCIENCE

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism

(2015) Lies Vanden Broeck et al.   NEUROBIOLOGY OF AGING

BAG3 facilitates the clearance of endogenous tau in primary neurons

(2015) Zhinian Lei et al.   NEUROBIOLOGY OF AGING

The TMEM106B locus and TDP-43 pathology in older persons without FTLD

(2015) L. Yu et al.   NEUROLOGY

Clinicopathological description of two cases withSQSTM1gene mutation associated with frontotemporal dementia

(2015) Gabor G. Kovacs et al.   NEUROPATHOLOGY

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

(2015) Emma L. Scotter et al.   Neurotherapeutics

Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis

(2015) James C. Dodge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Lrp1/LDL Receptor Play Critical Roles in Mannose 6-Phosphate-Independent Lysosomal Enzyme Targeting

(2015) Sandra Markmann et al.   TRAFFIC

TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III

(2015) Mi-Hee Jun et al.   Molecular Brain

The mTOR Inhibitor Rapamycin Mitigates Perforant Pathway Neurodegeneration and Synapse Loss in a Mouse Model of Early-Stage Alzheimer-Type Tauopathy

(2015) Robert Siman et al.   PLoS One

TMEM106B: a strong FTLD disease modifier

(2014) Yuetiva Deming et al.   ACTA NEUROPATHOLOGICA

Differential clinicopathologic and genetic features of late-onset amnestic dementias

(2014) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

(2014) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

The Lysosomal v-ATPase-Ragulator Complex Is a Common Activator for AMPK and mTORC1, Acting as a Switch between Catabolism and Anabolism

(2014) Chen-Song Zhang et al.   Cell Metabolism

Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB

(2014) V. A. Polito et al.   EMBO Molecular Medicine

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

(2014) Laura Canafoglia et al.   EPILEPSIA

Progranulin polymorphism rs5848 is associated with increased risk of Alzheimer's disease

(2014) Jinghao Sheng et al.   GENE

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Extracellular Monomeric Tau Protein Is Sufficient to Initiate the Spread of Tau Protein Pathology

(2014) Claire H. Michel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulated Intramembrane Proteolysis of the Frontotemporal Lobar Degeneration Risk Factor, TMEM106B, by Signal Peptide Peptidase-like 2a (SPPL2a)

(2014) Owen A. Brady et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B

(2014) Massimiliano Stagi et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Disease-Associated Mutations of TDP-43 Promote Turnover of the Protein Through the Proteasomal Pathway

(2014) Wataru Araki et al.   MOLECULAR NEUROBIOLOGY

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

(2014) Sami J Barmada et al.   Nature Chemical Biology

Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models

(2014) S Sakura Minami et al.   NATURE MEDICINE

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

(2014) A. Di Fonzo et al.   NEUROLOGY

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones

(2014) J. Robin Highley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Tau mutants bind tubulin heterodimers with enhanced affinity

(2014) S. Elbaum-Garfinkle et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Trafficking of endosomal Toll-like receptors

(2014) Bettina L. Lee et al.   TRENDS IN CELL BIOLOGY

The Biogenesis of Lysosomes and Lysosome-Related Organelles

(2014) J. P. Luzio et al.   Cold Spring Harbor Perspectives in Biology

Lysosome sorting of β-glucocerebrosidase by LIMP-2 is targeted by the mannose 6-phosphate receptor

(2014) Yuguang Zhao et al.   Nature Communications

Starvation and inhibition of lysosomal function increased tau secretion by primary cortical neurons

(2014) Nguyen-Vi Mohamed et al.   Scientific Reports

TMEM106B expression is reduced in Alzheimer’s disease brains

(2014) Jun-ichi Satoh et al.   Alzheimers Research & Therapy

Increased metal content in the TDP-43A315T transgenic mouse model of frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2014) Theresa N. T. Dang et al.   Frontiers in Aging Neuroscience

Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice

(2014) Yoshinori Tanaka et al.   Acta Neuropathologica Communications

Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons

(2013) Karen Castillo et al.   Autophagy

Sphingolipids and lysosomal pathologies

(2013) Heike Schulze et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Neuronopathic lysosomal storage diseases: Clinical and pathologic findings

(2013) Carlos E. Prada et al.   Developmental Disabilities Research Reviews

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not

(2013) John Hardy et al.   EXPERIMENTAL NEUROLOGY

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

(2013) Danielle C. Diaper et al.   HUMAN MOLECULAR GENETICS

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

CORVET and HOPS tethering complexes - coordinators of endosome and lysosome fusion

(2013) H. J. k. Balderhaar et al.   JOURNAL OF CELL SCIENCE

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

(2013) Alexandra M. Nicholson et al.   JOURNAL OF NEUROCHEMISTRY

Dissociation of Frontotemporal Dementia-Related Deficits and Neuroinflammation in Progranulin Haploinsufficient Mice

(2013) A. J. Filiano et al.   JOURNAL OF NEUROSCIENCE

Genetics of amyotrophic lateral sclerosis: an update

(2013) Sheng Chen et al.   Molecular Neurodegeneration

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The neurotrophic properties of progranulin depend on the granulin E domain but do not require sortilin binding

(2013) Louis De Muynck et al.   NEUROBIOLOGY OF AGING

Tau phosphorylation affects its axonal transport and degradation

(2013) Teresa Rodríguez-Martín et al.   NEUROBIOLOGY OF AGING

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

(2013) A. Cannon et al.   NEUROLOGY

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Rapamycin Attenuates the Progression of Tau Pathology in P301S Tau Transgenic Mice

(2013) Sefika Ozcelik et al.   PLoS One

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

(2013) Martine Therrien et al.   PLoS One

EGF receptor trafficking: consequences for signaling and cancer

(2013) Alejandra Tomas et al.   TRENDS IN CELL BIOLOGY

Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain

(2013) Johanna I Busch et al.   Acta Neuropathologica Communications

Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects

(2012) Glenda Halliday et al.   ACTA NEUROPATHOLOGICA

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

(2012) Hiroyuki Ishiura et al.   ARCHIVES OF NEUROLOGY

Stimulation of autophagy is neuroprotective in a mouse model of human tauopathy

(2012) Véronique Schaeffer et al.   Autophagy

Methylthioninium chloride (methylene blue) induces autophagy and attenuates tauopathy in vitro and in vivo

(2012) Erin E. Congdon et al.   Autophagy

Stimulation of autophagy reduces neurodegeneration in a mouse model of human tauopathy

(2012) Véronique Schaeffer et al.   BRAIN

Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection

(2012) S. E. Avendano-Vazquez et al.   GENES & DEVELOPMENT

The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function

(2012) Owen A. Brady et al.   HUMAN MOLECULAR GENETICS

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

(2012) Manohar Pilli et al.   IMMUNITY

Membrane Orientation and Subcellular Localization of Transmembrane Protein 106B (TMEM106B), a Major Risk Factor for Frontotemporal Lobar Degeneration

(2012) Christina M. Lang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Parkin Ubiquitinates Tar-DNA Binding Protein-43 (TDP-43) and Promotes Its Cytosolic Accumulation via Interaction with Histone Deacetylase 6 (HDAC6)

(2012) Michaeline L. Hebron et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Small Misfolded Tau Species Are Internalized via Bulk Endocytosis and Anterogradely and Retrogradely Transported in Neurons

(2012) Jessica W. Wu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autophagosomes initiate distally and mature during transport toward the cell soma in primary neurons

(2012) Sandra Maday et al.   JOURNAL OF CELL BIOLOGY

TMEM106B, the Risk Gene for Frontotemporal Dementia, Is Regulated by the microRNA-132/212 Cluster and Affects Progranulin Pathways

(2012) A. S. Chen-Plotkin et al.   JOURNAL OF NEUROSCIENCE

Progranulin regulates neuronal outgrowth independent of Sortilin

(2012) Jennifer Gass et al.   Molecular Neurodegeneration

Advances in understanding the molecular basis of frontotemporal dementia

(2012) Rosa Rademakers et al.   Nature Reviews Neurology

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

(2012) Yevgeniya Abramzon et al.   NEUROBIOLOGY OF AGING

Extensive genetics of ALS: A population-based study in Italy

(2012) A. Chio et al.   NEUROLOGY

TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease

(2012) N. J. Rutherford et al.   NEUROLOGY

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

(2012) A. Jezegou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43

(2012) I.-F. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

LAAT-1 Is the Lysosomal Lysine/Arginine Transporter That Maintains Amino Acid Homeostasis

(2012) B. Liu et al.   SCIENCE

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

The Role of Atg Proteins in Autophagosome Formation

(2011) Noboru Mizushima et al.   Annual Review of Cell and Developmental Biology

Lysosomal Acidification Mechanisms

(2011) Joseph A. Mindell   Annual Review of Physiology

Association of TMEM106B Gene Polymorphism With Age at Onset in Granulin Mutation Carriers and Plasma Granulin Protein Levels

(2011) Carlos Cruchaga et al.   ARCHIVES OF NEUROLOGY

Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

(2011) Alice S. Chen-Plotkin et al.   ARCHIVES OF NEUROLOGY

Autophagy and p62 in cardiac protein quality control

(2011) Huabo Su et al.   Autophagy

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

(2011) Julie van der Zee et al.   BRAIN

The p97 ATPase associates with EEA1 to regulate the size of early endosomes

(2011) Harish N Ramanathan et al.   CELL RESEARCH

Phenotypic signatures of genetic frontotemporal dementia

(2011) Jonathan D. Rohrer et al.   CURRENT OPINION IN NEUROLOGY

The ESCRT Pathway

(2011) William M. Henne et al.   DEVELOPMENTAL CELL

DENN Domain Proteins: Regulators of Rab GTPases

(2011) Andrea L. Marat et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pathogenesis of the Tauopathies

(2011) Michel Goedert et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Autophagy in Spinal Cord Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

(2011) Shoichi Sasaki   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

Distinct Mechanisms of Ferritin Delivery to Lysosomes in Iron-Depleted and Iron-Replete Cells

(2011) T. Asano et al.   MOLECULAR AND CELLULAR BIOLOGY

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS

(2011) Shangxi Xiao et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

(2011) Danilo Ritz et al.   NATURE CELL BIOLOGY

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

(2011) Max Koppers et al.   NEUROBIOLOGY OF AGING

Synaptic dysfunction in progranulin-deficient mice

(2011) Terri L. Petkau et al.   NEUROBIOLOGY OF DISEASE

rs5848 Variant of Progranulin Gene Is a Risk of Alzheimer’s Disease in the Taiwanese Population

(2011) Ming-Jen Lee et al.   Neurodegenerative Diseases

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function

(2011) Vincenzo Belcastro et al.   NUCLEIC ACIDS RESEARCH

Cathepsin D is partly endocytosed by the LRP1 receptor and inhibits LRP1-regulated intramembrane proteolysis

(2011) D Derocq et al.   ONCOGENE

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

(2010) Ryan Vass et al.   ACTA NEUROPATHOLOGICA

Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging

(2010) Zeshan Ahmed et al.   AMERICAN JOURNAL OF PATHOLOGY

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

Synergy and antagonism of macroautophagy and chaperone-mediated autophagy in a cell model of pathological tau aggregation

(2010) Yipeng Wang et al.   Autophagy

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

Proteolytic processing of tau

(2010) Yipeng Wang et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Ragulator-Rag Complex Targets mTORC1 to the Lysosomal Surface and Is Necessary for Its Activation by Amino Acids

(2010) Yasemin Sancak et al.   CELL

TDP-43 regulates its mRNA levels through a negative feedback loop

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

(2010) Hazel Urwin et al.   HUMAN MOLECULAR GENETICS

p62/SQSTM1Is a Target Gene for Transcription Factor NRF2 and Creates a Positive Feedback Loop by Inducing Antioxidant Response Element-driven Gene Transcription

(2010) Ashish Jain et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral Sclerosis

(2010) S. J. Barmada et al.   JOURNAL OF NEUROSCIENCE

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

(2010) Y.-F. Xu et al.   JOURNAL OF NEUROSCIENCE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

(2010) Vivianna M Van Deerlin et al.   NATURE GENETICS

Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse

(2010) I. Taes et al.   NEUROLOGY

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

(2010) N. Finch et al.   NEUROLOGY

Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, Progranulin

(2010) Fenghua Hu et al.   NEURON

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Progranulin expression is upregulated after spinal contusion in mice

(2009) Swati B. Naphade et al.   ACTA NEUROPATHOLOGICA

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

(2009) Ladislav Kuchař et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

(2009) Kristel Sleegers et al.   ANNALS OF NEUROLOGY

Tau normal function influences Niemann-Pick type C disease pathogenesis in mice and modulates autophagy in NPC1-deficient cells

(2009) Chris D. Pacheco et al.   Autophagy

The granulin gene family: from cancer to dementia

(2009) Andrew Bateman et al.   BIOESSAYS

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

(2009) N. Finch et al.   BRAIN

Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing

(2009) Yipeng Wang et al.   HUMAN MOLECULAR GENETICS

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

(2009) Chiara Aiello et al.   HUMAN MUTATION

Rapamycin Rescues TDP-43 Mislocalization and the Associated Low Molecular Mass Neurofilament Instability

(2009) Antonella Caccamo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autophagy regulates lipid metabolism

(2009) Rajat Singh et al.   NATURE

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

(2009) Roberto Del Bo et al.   NEUROBIOLOGY OF AGING

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

(2009) I. Le Ber et al.   NEUROLOGY

The heritability and genetics of frontotemporal lobar degeneration

(2009) J. D. Rohrer et al.   NEUROLOGY

Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin-proteasome system

(2009) Xiaoju Wang et al.   NEUROSCIENCE LETTERS

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sortilin mediates the lysosomal targeting of cathepsins D and H

(2008) Maryssa Canuel et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Roles of VCP in human neurodegenerative disorders

(2008) Akira Kakizuka   BIOCHEMICAL SOCIETY TRANSACTIONS

Sorting of lysosomal proteins

(2008) Thomas Braulke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Frontotemporal dementia linked to chromosome 3 (FTD-3) - current concepts and the detection of a previously unknown branch of the Danish FTD-3 family

(2008) S. G. Lindquist et al.   EUROPEAN JOURNAL OF NEUROLOGY

Autophagic-lysosomal perturbation enhances tau aggregation in transfectants with induced wild-type tau expression

(2008) Tadanori Hamano et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

FTDP-17 Mutations in Tau Alter the Regulation of Microtubule Dynamics

(2008) Adria C. LeBoeuf et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Potentiation of Amyotrophic Lateral Sclerosis (ALS)-associated TDP-43 Aggregation by the Proteasome-targeting Factor, Ubiquilin 1

(2008) Sang Hwa Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disturbance of Nuclear and Cytoplasmic TAR DNA-binding Protein (TDP-43) Induces Disease-like Redistribution, Sequestration, and Aggregate Formation

(2008) Matthew J. Winton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

(2008) Philip Van Damme et al.   JOURNAL OF CELL BIOLOGY

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration

(2008) J. Ramesh Babu et al.   JOURNAL OF NEUROCHEMISTRY

Regulation of TORC1 by Rag GTPases in nutrient response

(2008) Eunjung Kim et al.   NATURE CELL BIOLOGY

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

(2008) R. Ghidoni et al.   NEUROLOGY

The Rag GTPases Bind Raptor and Mediate Amino Acid Signaling to mTORC1

(2008) Y. Sancak et al.   SCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE