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

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

(2020) Eliana Marisa Ramos et al.   Alzheimers & Dementia

Tracking disease progression in familial and sporadic frontotemporal lobar degeneration: Recent findings from ARTFL and LEFFTDS

(2020) Howard J. Rosen et al.   Alzheimers & Dementia

Molecular Signatures of Neuroinflammation Induced by αSynuclein Aggregates in Microglial Cells

(2020) Souvarish Sarkar et al.   Frontiers in Immunology

Large-scale proteomic analysis of Alzheimer’s disease brain and cerebrospinal fluid reveals early changes in energy metabolism associated with microglia and astrocyte activation

(2020) Erik C. B. Johnson et al.   NATURE MEDICINE

Development of disease-modifying drugs for frontotemporal dementia spectrum disorders

(2020) Francesco Panza et al.   Nature Reviews Neurology

Genetic architecture of common non-Alzheimer’s disease dementias

(2020) Rita Guerreiro et al.   NEUROBIOLOGY OF DISEASE

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

(2020) Zachary T. McEachin et al.   NEURON

Exploring Sphingolipid Implications in Neurodegeneration

(2020) Alice V. Alessenko et al.   Frontiers in Neurology

Glycoprotein nonmetastatic melanoma protein B: A key mediator and an emerging therapeutic target in autoimmune diseases

(2020) Pei‐Suen Tsou et al.   FASEB JOURNAL

Blood factors transfer beneficial effects of exercise on neurogenesis and cognition to the aged brain

(2020) Alana M. Horowitz et al.   SCIENCE

Galectin-3, a novel endogenous TREM2 ligand, detrimentally regulates inflammatory response in Alzheimer’s disease

(2019) Antonio Boza-Serrano et al.   ACTA NEUROPATHOLOGICA

Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism

(2019) Julia K Götzl et al.   EMBO Molecular Medicine

An update on genetic frontotemporal dementia

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

Lysosomal Glycosphingolipid Storage Diseases

(2019) Bernadette Breiden et al.   Annual Review of Biochemistry

Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity

(2019) John Marshall et al.   MOLECULAR THERAPY

Progranulin deficiency leads to reduced glucocerebrosidase activity

(2019) Xiaolai Zhou et al.   PLoS One

Metascape provides a biologist-oriented resource for the analysis of systems-level datasets

(2019) Yingyao Zhou et al.   Nature Communications

C-terminal and full length TDP-43 specie differ according to FTLD-TDP lesion type but not genetic mutation

(2019) Keith A. Josephs et al.   Acta Neuropathologica Communications

ATP-citrate lyase (ACLY) in lipid metabolism and atherosclerosis: An updated review

(2019) Xiaojun Feng et al.   PROGRESS IN LIPID RESEARCH

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

(2019) Helena Gossye et al.   Frontiers in Neuroscience

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

(2019) Clarissa Valdez et al.   HUMAN MOLECULAR GENETICS

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

(2019) Vincent Huin et al.   BRAIN

Neurofilament Light Chain in Cerebrospinal Fluid and Blood as a Biomarker for Neurodegenerative Diseases: A Systematic Review and Meta-Analysis

(2019) Shao-Yang Wang et al.   JOURNAL OF ALZHEIMERS DISEASE

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

(2019) Emma L van der Ende et al.   LANCET NEUROLOGY

Lysosomal Dysfunction at the Centre of Parkinson’s Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis

(2019) Rebecca L. Wallings et al.   TRENDS IN NEUROSCIENCES

Role of Ceramidases in Sphingolipid Metabolism and Human Diseases

(2019) Farzana Parveen et al.   Cells

HEPES activates a MiT/TFE-dependent lysosomal-autophagic gene network in cultured cells: A call for caution

(2018) Marc J. Tol et al.   Autophagy

Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease

(2018) Vagishwari Murugesan et al.   BLOOD CELLS MOLECULES AND DISEASES

Is Parkinson’s disease a lysosomal disorder?

(2018) Andrés D Klein et al.   BRAIN

Apolipoprotein C-III in triglyceride-rich lipoprotein metabolism

(2018) Bastian Ramms et al.   CURRENT OPINION IN LIPIDOLOGY

Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis

(2018) Andrew E. Arrant et al.   JOURNAL OF NEUROSCIENCE

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

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

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

Global quantitative analysis of the human brain proteome in Alzheimer’s and Parkinson’s Disease

(2018) Lingyan Ping et al.   Scientific Data

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

Microglial signatures and their role in health and disease

(2018) Oleg Butovsky et al.   NATURE REVIEWS NEUROSCIENCE

The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress

(2018) Elizabeth B. Moloney et al.   NEUROBIOLOGY OF DISEASE

Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia

(2018) Ione O.C. Woollacott et al.   NEUROCASE

Glycoprotein Non-Metastatic Protein B: An Emerging Biomarker for Lysosomal Dysfunction in Macrophages

(2018) Martijn van der Lienden et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Developmental Heterogeneity of Microglia and Brain Myeloid Cells Revealed by Deep Single-Cell RNA Sequencing

(2018) Qingyun Li et al.   NEURON

Synaptic, Mitochondrial, and Lysosomal Dysfunction in Parkinson’s Disease

(2018) Maria Nguyen et al.   TRENDS IN NEUROSCIENCES

Diverse Protein Profiles in CNS Myeloid Cells and CNS Tissue From Lipopolysaccharide- and Vehicle-Injected APPSWE/PS1ΔE9 Transgenic Mice Implicate Cathepsin Z in Alzheimer’s Disease

(2018) Camilla Thygesen et al.   Frontiers in Cellular Neuroscience

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Glycoprotein NMB: a novel Alzheimer’s disease associated marker expressed in a subset of activated microglia

(2018) Melanie Hüttenrauch et al.   Acta Neuropathologica Communications

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

The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases

(2017) Susanne Krasemann et al.   IMMUNITY

Short Aβ peptides attenuate Aβ42 toxicity in vivo

(2017) Brenda D. Moore et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A role for cathepsin Z in neuroinflammation provides mechanistic support for an epigenetic risk factor in multiple sclerosis

(2017) Euan R. O. Allan et al.   Journal of Neuroinflammation

The Many Roles of Galectin-3, a Multifaceted Molecule, in Innate Immune Responses against Pathogens

(2017) Laura Díaz-Alvarez et al.   MEDIATORS OF INFLAMMATION

Glycoprotein NMB: an Emerging Role in Neurodegenerative Disease

(2017) Kevin M. Budge et al.   MOLECULAR NEUROBIOLOGY

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

Microglial NFκB-TNFα hyperactivation induces obsessive–compulsive behavior in mouse models of progranulin-deficient frontotemporal dementia

(2017) Grietje Krabbe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

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

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

(2017) Xiaolai Zhou et al.   Nature Communications

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

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

Gene Expression Profiling of Multiple Sclerosis Pathology Identifies Early Patterns of Demyelination Surrounding Chronic Active Lesions

(2017) Debbie A. E. Hendrickx et al.   Frontiers in Immunology

A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer’s Disease

(2017) Nicholas T. Seyfried et al.   Cell Systems

TFEB and TFE3: Linking Lysosomes to Cellular Adaptation to Stress

(2016) Nina Raben 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

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

(2016) Hansen Lui et al.   CELL

EphA2 is a functional receptor for the growth factor progranulin

(2016) Thomas Neill et al.   JOURNAL OF CELL BIOLOGY

GPNMB ameliorates mutant TDP-43-induced motor neuron cell death

(2016) Yuki Nagahara et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

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

Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models

(2016) Gertjan Kramer et al.   FEBS Open Bio

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7

(2015) Laura Brandenstein et al.   HUMAN MOLECULAR GENETICS

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

Cell type– and brain region–resolved mouse brain proteome

(2015) Kirti Sharma et al.   NATURE NEUROSCIENCE

Loss ofTBK1is a frequent cause of frontotemporal dementia in a Belgian cohort

(2015) Ilse Gijselinck et al.   NEUROLOGY

Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease

(2015) Hila Zigdon et al.   PLoS One

The Evolution of the Secreted Regulatory Protein Progranulin

(2015) Roger G. E. Palfree et al.   PLoS One

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

Complex Relationships between Substrate Sequence and Sensitivity to Alterations in γ-Secretase Processivity Induced by γ-Secretase Modulators

(2014) Joo In Jung et al.   BIOCHEMISTRY

Lysosomal Stress in Obese Adipose Tissue Macrophages Contributes to MITF-Dependent Gpnmb Induction

(2014) T. L. Gabriel et al.   DIABETES

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

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations

(2014) Gianluca Floris et al.   JOURNAL OF NEUROLOGY

FUS is Phosphorylated by DNA-PK and Accumulates in the Cytoplasm after DNA Damage

(2014) Q. Deng et al.   JOURNAL OF NEUROSCIENCE

Extensive White Matter Involvement in Patients With Frontotemporal Lobar Degeneration

(2014) Paola Caroppo et al.   JAMA Neurology

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

(2014) Yoshinori Tanaka et al.   Acta Neuropathologica Communications

Genes and pathways underlying regional and cell type changes in Alzheimer's disease

(2013) Jeremy A Miller et al.   Genome Medicine

SQSTM1Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

(2013) Isabelle Le Ber   JAMA Neurology

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

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

Mouse models of frontotemporal dementia

(2012) Erik D. Roberson   ANNALS OF NEUROLOGY

Comparison of co-expression measures: mutual information, correlation, and model based indices

(2012) Lin Song et al.   BMC BIOINFORMATICS

Progranulin: A Proteolytically Processed Protein at the Crossroads of Inflammation and Neurodegeneration

(2012) Basar Cenik et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice

(2012) Hans Wils et al.   JOURNAL OF PATHOLOGY

Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models

(2012) Gernot Kleinberger et al.   MOLECULAR NEUROBIOLOGY

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

(2012) Christophe Verbeeck et al.   Molecular Neurodegeneration

Progranulin regulates neuronal outgrowth independent of Sortilin

(2012) Jennifer Gass et al.   Molecular Neurodegeneration

Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease

(2012) Lasse Pihlstrøm et al.   NEUROBIOLOGY OF AGING

Extracellular progranulin protects cortical neurons from toxic insults by activating survival signaling

(2011) Jindong Xu et al.   NEUROBIOLOGY OF AGING

Core features of frontotemporal dementia recapitulated in progranulin knockout mice

(2011) N. Ghoshal et al.   NEUROBIOLOGY OF DISEASE

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

(2011) et al.   PLoS Genetics

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

Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia

(2010) Fangfang Yin et al.   FASEB JOURNAL

Progranulin expression in the developing and adult murine brain

(2010) Terri L. Petkau et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Progranulin is Neurotrophic In Vivo and Protects against a Mutant TDP-43 Induced Axonopathy

(2010) Angela S. Laird et al.   PLoS One

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

(2009) N. Finch et al.   BRAIN

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

(2009) Fangfang Yin et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

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

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

Substrate-targeting γ-secretase modulators

(2008) Thomas L. Kukar et al.   NATURE

Functional organization of the transcriptome in human brain

(2008) Michael C Oldham et al.   NATURE NEUROSCIENCE

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

(2008) R. Ghidoni et al.   NEUROLOGY

Structure dissection of human progranulin identifies well-folded granulin/epithelin modules with unique functional activities

(2008) Dmitri Tolkatchev et al.   PROTEIN SCIENCE