Lysosomal dysfunction in neurodegeneration: emerging concepts and methods

In vitro amplification of pathogenic tau conserves disease-specific bioactive characteristics

(2021) Hong Xu et al.   ACTA NEUROPATHOLOGICA

Exosomes induce endolysosomal permeabilization as a gateway by which exosomal tau seeds escape into the cytosol

(2021) Juan Carlos Polanco et al.   ACTA NEUROPATHOLOGICA

The rapidly evolving view of lysosomal storage diseases

(2021) Giancarlo Parenti et al.   EMBO Molecular Medicine

Image-based pooled whole-genome CRISPRi screening for subcellular phenotypes

(2021) Gil Kanfer et al.   JOURNAL OF CELL BIOLOGY

Parkinson’s Disease–Associated LRRK2 Interferes with Astrocyte-Mediated Alpha-Synuclein Clearance

(2021) Linn Streubel-Gallasch et al.   MOLECULAR NEUROBIOLOGY

A growth-factor-activated lysosomal K+ channel regulates Parkinson’s pathology

(2021) Jinhong Wie et al.   NATURE

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

(2021) Ruth Chia et al.   NATURE GENETICS

LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease

(2021) Yuri L. Sosero et al.   NEUROBIOLOGY OF AGING

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

(2021) Alessio Colombo et al.   Nature Communications

Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson’s disease-linked DNAJC6 mutations

(2021) Noviana Wulansari et al.   Science Advances

Lysosomal Functions in Glia Associated with Neurodegeneration

(2021) Conlan Kreher et al.   Biomolecules

Region-specific vulnerability in neurodegeneration: lessons from normal ageing

(2021) Virenkumar A. Pandya et al.   AGEING RESEARCH REVIEWS

Chaperone-mediated autophagy prevents collapse of the neuronal metastable proteome

(2021) Mathieu Bourdenx et al.   CELL

Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-Pick type C

(2021) Joseph C. Roney et al.   DEVELOPMENTAL CELL

Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons

(2021) Swetha Gowrishankar et al.   MOLECULAR BIOLOGY OF THE CELL

The P2X7 Receptor in Microglial Cells Modulates the Endolysosomal Axis, Autophagy, and Phagocytosis

(2021) Keith E. Campagno et al.   Frontiers in Cellular Neuroscience

Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson’s disease

(2021) Soojin Kim et al.   Nature Communications

Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic

(2021) Todd Logan et al.   CELL

Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C

(2021) Ting-Ting Chu et al.   NATURE

Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis

(2021) Ruilin Tian et al.   NATURE NEUROSCIENCE

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

(2021) Jessica Root et al.   NEUROBIOLOGY OF DISEASE

C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation

(2021) Deepti Lall et al.   NEURON

Structural basis for the ARF GAP activity and specificity of the C9orf72 complex

(2021) Ming-Yuan Su et al.   Nature Communications

SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network

(2021) Christy Hung et al.   Cell Reports

Genetically Encoded, pH-Sensitive mTFP1 Biosensor for Probing Lysosomal pH

(2021) Marcus Y. Chin et al.   ACS Sensors

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

(2020) Mingmei Wang et al.   AGING CELL

ATP13A2 deficiency disrupts lysosomal polyamine export

(2020) Sarah van Veen et al.   NATURE

Human and mouse single-nucleus transcriptomics reveal TREM2-dependent and TREM2-independent cellular responses in Alzheimer’s disease

(2020) Yingyue Zhou et al.   NATURE MEDICINE

Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export

(2020) Shaun Martin et al.   ACTA NEUROPATHOLOGICA

Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease

(2020) Yutaka Oji et al.   BRAIN

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

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

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

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

Microglia clear neuron-released α-synuclein via selective autophagy and prevent neurodegeneration

(2020) Insup Choi et al.   Nature Communications

Lysosomal perturbations in human dopaminergic neurons derived from induced pluripotent stem cells with PARK2 mutation

(2020) Justyna Okarmus et al.   Scientific Reports

Pharmacodynamic Biomarkers for Emerging LRRK2 Therapeutics

(2020) Kaela Kelly et al.   Frontiers in Neuroscience

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

NPC1-mTORC1 Signaling Couples Cholesterol Sensing to Organelle Homeostasis and Is a Targetable Pathway in Niemann-Pick Type C

(2020) Oliver B. Davis et al.   DEVELOPMENTAL CELL

Improving clinical trial outcomes in amyotrophic lateral sclerosis

(2020) Matthew C. Kiernan et al.   Nature Reviews Neurology

Epigenetic mechanisms underlying enhancer modulation of neuronal identity, neuronal activity and neurodegeneration

(2020) Rafael Alcalà-Vida et al.   NEUROBIOLOGY OF DISEASE

Patient-Specific iPSC-Derived Astrocytes Contribute to Non-Cell-Autonomous Neurodegeneration in Parkinson's Disease

(2019) Angelique di Domenico et al.   Stem Cell Reports

Modeling G2019S-LRRK2 Sporadic Parkinson's Disease in 3D Midbrain Organoids

(2019) Hongwon Kim et al.   Stem Cell Reports

Entanglement of Genetics and Epigenetics in Parkinson’s Disease

(2019) H. J. van Heesbeen et al.   Frontiers in Neuroscience

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

(2019) Roy N. Alcalay et al.   MOVEMENT DISORDERS

PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasis

(2019) Chiara Fedeli et al.   Autophagy

Increased lysosomal exocytosis induced by lysosomal Ca2+ channel agonists protects human dopaminergic neurons from α-synuclein toxicity

(2019) Taiji Tsunemi et al.   JOURNAL OF NEUROSCIENCE

The Autophagy Lysosomal Pathway and Neurodegeneration

(2019) Steven Finkbeiner   Cold Spring Harbor Perspectives in Biology

Control of Lysosomal TRPML1 Channel Activity and Exosome Release by Acid Ceramidase in Mouse Podocytes

(2019) Guangbi Li et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

Functionalization of the TMEM175 p.M393T Variant as a risk factor for Parkinson Disease

(2019) Sarah Jinn et al.   HUMAN MOLECULAR GENETICS

Endo-lysosomal dysregulations and late-onset Alzheimer’s disease: impact of genetic risk factors

(2019) Zoë P. Van Acker et al.   Molecular Neurodegeneration

Neuronal Soma-Derived Degradative Lysosomes Are Continuously Delivered to Distal Axons to Maintain Local Degradation Capacity

(2019) Tamar Farfel-Becker et al.   Cell Reports

Glucocerebrosidase and its relevance to Parkinson disease

(2019) Jenny Do et al.   Molecular Neurodegeneration

Higher Urine bis(Monoacylglycerol)Phosphate Levels in LRRK2 G2019S Mutation Carriers: Implications for Therapeutic Development

(2019) Roy N. Alcalay et al.   MOVEMENT DISORDERS

Lysosomes as a therapeutic target

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

A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

(2019) Jorge L. Del-Aguila et al.   Alzheimers Research & Therapy

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

(2019) Lynne Krohn et al.   ANNALS OF NEUROLOGY

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

A single-cell atlas of entorhinal cortex from individuals with Alzheimer’s disease reveals cell-type-specific gene expression regulation

(2019) Alexandra Grubman et al.   NATURE NEUROSCIENCE

Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients

(2019) Sarah Louise Nickels et al.   PARKINSONISM & RELATED DISORDERS

Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72

(2019) Noori Chai et al.   BRAIN RESEARCH

Systematic Comparison of Strategies for the Enrichment of Lysosomes by Data Independent Acquisition

(2019) Jasjot Singh et al.   JOURNAL OF PROTEOME RESEARCH

A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease

(2019) Elma Aflaki et al.   NEUROBIOLOGY OF DISEASE

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

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

LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson’s disease patients

(2019) Daniel Ysselstein et al.   Nature Communications

Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease

(2018) Paul W. Hook et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autophagy inhibition promotes SNCA/alpha-synuclein release and transfer via extracellular vesicles with a hybrid autophagosome-exosome-like phenotype

(2018) Georgia Minakaki et al.   Autophagy

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

(2018) Anna Corrionero et al.   CURRENT BIOLOGY

Mitochondria–lysosome contacts regulate mitochondrial fission via RAB7 GTP hydrolysis

(2018) Yvette C. Wong et al.   NATURE

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

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Neuronal lysosomes

(2018) Shawn M. Ferguson   NEUROSCIENCE LETTERS

NUFIP1 is a ribosome receptor for starvation-induced ribophagy

(2018) Gregory A. Wyant et al.   SCIENCE

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

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

VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites

(2018) Nikit Kumar et al.   JOURNAL OF CELL BIOLOGY

Animal models of neurodegenerative diseases

(2018) Ted M. Dawson et al.   NATURE NEUROSCIENCE

Path mediation analysis reveals GBA impacts Lewy body disease status by increasing α-synuclein levels

(2018) Anna Lisa Gündner et al.   NEUROBIOLOGY OF DISEASE

Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis

(2018) Pablo Garcia-Reitboeck et al.   Cell Reports

Genetically Engineered iPSC-Derived FTDP-17 MAPT Neurons Display Mutation-Specific Neurodegenerative and Neurodevelopmental Phenotypes

(2018) An Verheyen et al.   Stem Cell Reports

Inflammation in ALS/FTD pathogenesis

(2018) Madelyn E. McCauley et al.   ACTA NEUROPATHOLOGICA

Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes

(2018) Charmaine Lang et al.   Cell Stem Cell

Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism

(2018) Hossein Darvish et al.   MOVEMENT DISORDERS

The lysosome as a cellular centre for signalling, metabolism and quality control

(2018) Rosalie E. Lawrence et al.   NATURE CELL BIOLOGY

Lysosomal storage diseases

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

Proteomics and metabolomics in ageing research: from biomarkers to systems biology

(2017) Jessica M. Hoffman et al.   Essays in Biochemistry

Impaired JIP3-dependent axonal lysosome transport promotes amyloid plaque pathology

(2017) Swetha Gowrishankar et al.   JOURNAL OF CELL BIOLOGY

The interaction between progranulin and prosaposin is mediated by granulins and the linker region between saposin B and C

(2017) Xiaolai Zhou et al.   JOURNAL OF NEUROCHEMISTRY

The role of epigenetics in lysosomal storage disorders: Uncharted territory

(2017) Shahzeb Hassan et al.   MOLECULAR GENETICS AND METABOLISM

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease

(2017) Elma Aflaki et al.   NEURON

TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation

(2017) Sarah Jinn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

BORC/kinesin-1 ensemble drives polarized transport of lysosomes into the axon

(2017) Ginny G. Farías et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lysosomal metabolomics reveals V-ATPase- and mTOR-dependent regulation of amino acid efflux from lysosomes

(2017) Monther Abu-Remaileh et al.   SCIENCE

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease

(2017) Lena F. Burbulla et al.   SCIENCE

Aging and neurodegeneration are associated with increased mutations in single human neurons

(2017) Michael A. Lodato et al.   SCIENCE

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

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

Impaired endo-lysosomal membrane integrity accelerates the seeding progression of α-synuclein aggregates

(2017) Peizhou Jiang et al.   Scientific Reports

Trafficking-Mediated STING Degradation Requires Sorting to Acidified Endolysosomes and Can Be Targeted to Enhance Anti-tumor Response

(2017) Vijay K. Gonugunta et al.   Cell Reports

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

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

Altered neurofilament protein expression in the lateral vestibular nucleus in Parkinson’s disease

(2017) Thomas P. Wellings et al.   EXPERIMENTAL BRAIN RESEARCH

Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages

(2017) Walther Haenseler et al.   Scientific Reports

Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance

(2016) Judith Blanz et al.   JOURNAL OF NEUROCHEMISTRY

A New Glucocerebrosidase Chaperone Reduces  -Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

(2016) E. Aflaki et al.   JOURNAL OF NEUROSCIENCE

Activation of  -Glucocerebrosidase Reduces Pathological  -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons

(2016) J. R. Mazzulli et al.   JOURNAL OF NEUROSCIENCE

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

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

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

(2016) Ryan D. Geraets et al.   Orphanet Journal of Rare Diseases

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

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons

(2016) Hugo J.R. Fernandes et al.   Stem Cell Reports

Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer’s Disease Phenotypes

(2016) Waseem K. Raja et al.   PLoS One

Inflammatory molecules in Frontotemporal Dementia: Cerebrospinal fluid signature of progranulin mutation carriers

(2015) D. Galimberti et al.   BRAIN BEHAVIOR AND IMMUNITY

TMEM175 Is an Organelle K + Channel Regulating Lysosomal Function

(2015) Chunlei Cang et al.   CELL

No evidence for substrate accumulation in Parkinson brains withGBAmutations

(2015) Matthew E. Gegg et al.   MOVEMENT DISORDERS

Up-regulation of lysosomal TRPML1 channels is essential for lysosomal adaptation to nutrient starvation

(2015) Wuyang Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effect of selective LRRK2 kinase inhibition on nonhuman primate lung

(2015) Reina N. Fuji et al.   Science Translational Medicine

Presenilin 1 Maintains Lysosomal Ca2+ Homeostasis via TRPML1 by Regulating vATPase-Mediated Lysosome Acidification

(2015) Ju-Hyun Lee et al.   Cell Reports

Autophagy in microglia degrades extracellular β-amyloid fibrils and regulates the NLRP3 inflammasome

(2014) Mi-Hyang Cho et al.   Autophagy

Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation

(2014) Luke A. Gilbert et al.   CELL

The Roles of Lysosomes in Inflammation and Autoimmune Diseases

(2014) Wei Ge et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

The Lysosome Rupture-activated TAK1-JNK Pathway Regulates NLRP3 Inflammasome Activation

(2014) Masahiro Okada et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Spreading of amyloid-β peptides via neuritic cell-to-cell transfer is dependent on insufficient cellular clearance

(2014) Jakob Domert et al.   NEUROBIOLOGY OF DISEASE

The Complex Ultrastructure of the Endolysosomal System

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

iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis

(2014) David C. Schöndorf et al.   Nature Communications

Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes

(2014) Roy N. Alcalay et al.   JAMA Neurology

mTOR Regulates Lysosomal ATP-Sensitive Two-Pore Na+ Channels to Adapt to Metabolic State

(2013) Chunlei Cang et al.   CELL

Isogenic Human iPSC Parkinson’s Model Shows Nitrosative Stress-Induced Dysfunction in MEF2-PGC1α Transcription

(2013) Scott D. Ryan et al.   CELL

Genetic Correction of a LRRK2 Mutation in Human iPSCs Links Parkinsonian Neurodegeneration to ERK-Dependent Changes in Gene Expression

(2013) Peter Reinhardt et al.   Cell Stem Cell

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

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

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

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

(2013) Christopher J. Donnelly et al.   NEURON

Increased lysosomal biogenesis in activated microglia and exacerbated neuronal damage after traumatic brain injury in progranulin-deficient mice

(2013) Y. Tanaka et al.   NEUROSCIENCE

Alpha-Synuclein Induces Lysosomal Rupture and Cathepsin Dependent Reactive Oxygen Species Following Endocytosis

(2013) David Freeman et al.   PLoS One

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Animal Models of Alzheimer Disease

(2013) F. M. LaFerla et al.   Cold Spring Harbor Perspectives in Medicine

Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury

(2012) Lauren Herl Martens et al.   JOURNAL OF CLINICAL INVESTIGATION

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Loss of function mutations in the progranulin gene are related to pro-inflammatory cytokine dysregulation in frontotemporal lobar degeneration patients

(2011) Paola Bossù et al.   Journal of Neuroinflammation

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann–Pick type C1 mice

(2011) Sarah N.R. Pressey et al.   NEUROBIOLOGY OF DISEASE

Selective Neuronal Vulnerability in Neurodegenerative Diseases: from Stressor Thresholds to Degeneration

(2011) Smita Saxena et al.   NEURON

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

Identification of a Lysosomal Pathway That Modulates Glucocorticoid Signaling and the Inflammatory Response

(2011) Y. He et al.   Science Signaling

Increased iron levels correlate with the selective nigral dopaminergic neuron degeneration in Parkinson’s disease

(2010) Zhanyun Lv et al.   JOURNAL OF NEURAL TRANSMISSION

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

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

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

(2008) Xian-Ping Dong et al.   NATURE