Endocytic membrane trafficking and neurodegenerative disease

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism

(2015) Wen-Chuan Shen et al.   Autophagy

Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression

(2015) Anastasia G. Henry et al.   HUMAN MOLECULAR GENETICS

An early endosome regulator, Rab5b, is an LRRK2 kinase substrate

(2015) Hye Jin Yun et al.   JOURNAL OF BIOCHEMISTRY

VPS35 in Dopamine Neurons Is Required for Endosome-to-Golgi Retrieval of Lamp2a, a Receptor of Chaperone-Mediated Autophagy That Is Critical for  -Synuclein Degradation and Prevention of Pathogenesis of Parkinson's Disease

(2015) F.-L. Tang et al.   JOURNAL OF NEUROSCIENCE

The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

(2015) Michael Lazarou et al.   NATURE

Retromer Binding to FAM21 and the WASH Complex Is Perturbed by the Parkinson Disease-Linked VPS35(D620N) Mutation

(2014) Ian J. McGough et al.   CURRENT BIOLOGY

LRRK2 localizes to endosomes and interacts with clathrin-light chains to limit Rac1 activation

(2014) A. M. Schreij et al.   EMBO REPORTS

Focality, stochasticity and neuroanatomic propagation in ALS pathogenesis

(2014) John Ravits   EXPERIMENTAL NEUROLOGY

Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N

(2014) L. N. Munsie et al.   HUMAN MOLECULAR GENETICS

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration

(2014) E. Tsika et al.   HUMAN MOLECULAR GENETICS

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

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

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes

(2014) Stephanie M.Y. Kong et al.   HUMAN MOLECULAR GENETICS

LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity

(2014) Patricia Gómez-Suaga et al.   HUMAN MOLECULAR GENETICS

Coordinated binding of Vps4 to ESCRT-III drives membrane neck constriction during MVB vesicle formation

(2014) Manuel Alonso Y Adell et al.   JOURNAL OF CELL BIOLOGY

RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation

(2014) C. L. Freeman et al.   JOURNAL OF CELL SCIENCE

ATP13A2/PARK9 Regulates Secretion of Exosomes and  -Synuclein

(2014) T. Tsunemi et al.   JOURNAL OF NEUROSCIENCE

Brain connectivity in neurodegenerative diseases—from phenotype to proteinopathy

(2014) Michela Pievani et al.   Nature Reviews Neurology

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

A Role of Rab29 in the Integrity of the Trans-Golgi Network and Retrograde Trafficking of Mannose-6-Phosphate Receptor

(2014) Shicong Wang et al.   PLoS One

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

(2014) A. Beilina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

AP2 controls clathrin polymerization with a membrane-activated switch

(2014) B. T. Kelly et al.   SCIENCE

Endosome maturation, transport and functions

(2014) Cameron C. Scott et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy

(2014) Eszter Zavodszky et al.   Nature Communications

In vivo evidence of pathogenicity of VPS35 mutations in the Drosophila

(2014) Hua-shan Wang et al.   Molecular Brain

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

(2014) Ramiro Nández et al.   eLife

Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders

(2014) Sarah van Veen et al.   Frontiers in Molecular Neuroscience

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

(2014) Benoît Renvoisé et al.   Annals of Clinical and Translational Neurology

Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia

(2013) Alan Stepto et al.   ACTA NEUROPATHOLOGICA

Reaffirmation of GAK, but not HLA-DRA, as a Parkinson's disease susceptibility gene in a Taiwanese population

(2013) Chin-Hsien Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

DNAJC13 mutations in Parkinson disease

(2013) Carles Vilariño-Güell et al.   HUMAN MOLECULAR GENETICS

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

(2013) Olena Korvatska et al.   HUMAN MOLECULAR GENETICS

Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

(2013) Marialuisa Quadri et al.   HUMAN MUTATION

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality

(2013) Páll Karlsson et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

An ESCRT–spastin interaction promotes fission of recycling tubules from the endosome

(2013) Rachel Allison et al.   JOURNAL OF CELL BIOLOGY

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

(2013) Jennifer Hirst et al.   MOLECULAR BIOLOGY OF THE CELL

RAB7L1 Interacts with LRRK2 to Modify Intraneuronal Protein Sorting and Parkinson’s Disease Risk

(2013) David A. MacLeod et al.   NEURON

The Vps35 D620N Mutation Linked to Parkinson's Disease Disrupts the Cargo Sorting Function of Retromer

(2013) Jordan Follett et al.   TRAFFIC

Hrs- and CD63-Dependent Competing Mechanisms Make Different Sized Endosomal Intraluminal Vesicles

(2013) James R. Edgar et al.   TRAFFIC

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

(2013) Mukhran Khundadze et al.   PLoS Genetics

Association of Sequence Alterations in the Putative Promoter of RAB7L1 With a Reduced Parkinson Disease Risk

(2012) Ziv Gan-Or   ARCHIVES OF NEUROLOGY

Lysosomal dysfunction in Parkinson disease

(2012) Benjamin Dehay et al.   Autophagy

The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function

(2012) Caroline Freeman et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The First Five Seconds in the Life of a Clathrin-Coated Pit

(2012) Emanuele Cocucci et al.   CELL

A Vesicular Transport Pathway Shuttles Cargo from Mitochondria to Lysosomes

(2012) Vincent Soubannier et al.   CURRENT BIOLOGY

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

(2012) Yifat Zivony-Elboum et al.   JOURNAL OF MEDICAL GENETICS

Deficiency of ATP13A2 Leads to Lysosomal Dysfunction,  -Synuclein Accumulation, and Neurotoxicity

(2012) M. Usenovic et al.   JOURNAL OF NEUROSCIENCE

Autophagy receptors link myosin VI to autophagosomes to mediate Tom1-dependent autophagosome maturation and fusion with the lysosome

(2012) David A. Tumbarello et al.   NATURE CELL BIOLOGY

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration

(2012) B. Dehay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VPS35 Mutations in Parkinson Disease

(2011) Carles Vilariño-Güell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without SOD1 Mutations

(2011) Han-Xiang Deng   ARCHIVES OF NEUROLOGY

Recruitment of the endosomal WASH complex is mediated by the extended ‘tail’ of Fam21 binding to the retromer protein Vps35

(2011) Michael E. Harbour et al.   BIOCHEMICAL JOURNAL

Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: Implications for human motor neuron disease

(2011) Ralf Palmisano et al.   BMC NEUROSCIENCE

Autophagy: Renovation of Cells and Tissues

(2011) Noboru Mizushima et al.   CELL

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

(2011) Joseph R. Mazzulli et al.   CELL

GWAS-linked GAK locus in Parkinson’s disease in Han Chinese and meta-analysis

(2011) Nan-Nan Li et al.   HUMAN GENETICS

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

(2011) David Ramonet et al.   HUMAN MOLECULAR GENETICS

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

(2011) Jin-Sung Park et al.   HUMAN MUTATION

Exosomes: Small vesicles participating in intercellular communication

(2011) Anna-Kristin Ludwig et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

DENN Domain Proteins: Regulators of Rab GTPases

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

Prorenin Receptor Is Essential for Podocyte Autophagy and Survival

(2011) F. Riediger et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction

(2011) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

Molecular mechanism and physiological functions of clathrin-mediated endocytosis

(2011) Harvey T. McMahon et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

Recent Advances in Retromer Biology

(2011) Ian J. McGough et al.   TRAFFIC

The Fifth Adaptor Protein Complex

(2011) Jennifer Hirst et al.   PLOS BIOLOGY

Ageing, neurodegeneration and Parkinson's disease

(2010) J. V. Hindle   AGE AND AGEING

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

(2010) Christoph S. Clemen et al.   BRAIN

Sequence-Dependent Sorting of Recycling Proteins by Actin-Stabilized Endosomal Microdomains

(2010) Manojkumar A. Puthenveedu et al.   CELL

The (Pro)renin Receptor/ATP6AP2 is Essential for Vacuolar H + -ATPase Assembly in Murine Cardiomyocytes

(2010) Kenichiro Kinouchi et al.   CIRCULATION RESEARCH

Genetics of neurodegenerative diseases: insights from high-throughput resequencing

(2010) S. Tsuji   HUMAN MOLECULAR GENETICS

Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors

(2010) Shin-ichiro Yoshimura et al.   JOURNAL OF CELL BIOLOGY

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics

(2010) M. E. Harbour et al.   JOURNAL OF CELL SCIENCE

An endophilin-dynamin complex promotes budding of clathrin-coated vesicles during synaptic vesicle recycling

(2010) A. Sundborger et al.   JOURNAL OF CELL SCIENCE

SPG20 Protein Spartin Is Recruited to Midbodies by ESCRT-III Protein Ist1 and Participates in Cytokinesis

(2010) Benoît Renvoisé et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Loss of ALS2/Alsin Exacerbates Motor Dysfunction in a SOD1H46R-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking

(2010) Shinji Hadano et al.   PLoS One

Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice

(2010) Y.-I. Yim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transport according to GARP: receiving retrograde cargo at the trans-Golgi network

(2010) Juan S. Bonifacino et al.   TRENDS IN CELL BIOLOGY

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5

(2009) Thomas L. Edwards et al.   BIOCHEMICAL JOURNAL

The Arp2/3 Activator WASH Controls the Fission of Endosomes through a Large Multiprotein Complex

(2009) Emmanuel Derivery et al.   DEVELOPMENTAL CELL

Structure of clathrin coat with bound Hsc70 and auxilin: mechanism of Hsc70-facilitated disassembly

(2009) Yi Xing et al.   EMBO JOURNAL

Regulation of endosomal clathrin and retromer-mediated endosome to Golgi retrograde transport by the J-domain protein RME-8

(2009) Anbing Shi et al.   EMBO JOURNAL

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

(2009) Aaron D Gitler et al.   NATURE GENETICS

Rab GTPases as coordinators of vesicle traffic

(2009) Harald Stenmark   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

ExoCarta: A compendium of exosomal proteins and RNA

(2009) Suresh Mathivanan et al.   PROTEOMICS

Analysis of Articulation Between Clathrin and Retromer in Retrograde Sorting on Early Endosomes

(2009) Vincent Popoff et al.   TRAFFIC

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GTPase Cycle of Dynamin Is Coupled to Membrane Squeeze and Release, Leading to Spontaneous Fission

(2008) Pavel V. Bashkirov et al.   CELL

ESCRT complexes and the biogenesis of multivesicular bodies

(2008) James H Hurley   CURRENT OPINION IN CELL BIOLOGY

Multivesicular bodies: co-ordinated progression to maturity

(2008) Philip G Woodman et al.   CURRENT OPINION IN CELL BIOLOGY

Retromer

(2008) Juan S Bonifacino et al.   CURRENT OPINION IN CELL BIOLOGY

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish

(2008) Francois Gros-Louis et al.   HUMAN MOLECULAR GENETICS

The Itinerary of Autophagosomes: From Peripheral Formation to Kiss-and-Run Fusion with Lysosomes

(2008) Luca Jahreiss et al.   TRAFFIC