DNAJC13 mutations in Parkinson disease - Wikidata - wikimedia - TriplyDB

DNAJC13 mutations in Parkinson disease

DNAJC13 mutations in Parkinson disease

http://www.wikidata.org/entity/Q28658355

about

J protein mutations and resulting proteostasis collapse Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation.Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.Genetic Profile, Environmental Exposure, and Their Interaction in Parkinson's Disease Mitochondrial Biology and Neurological Diseases Usefulness of Genetic Testing in PD and PD Trials: A Balanced Review Identification of TMEM230 mutations in familial Parkinson's disease FBXO7 Y52C polymorphism as a potential protective factor in Parkinson's disease Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy Gene expression profiling for human iPS-derived motor neurons from sporadic ALS patients reveals a strong association between mitochondrial functions and neurodegeneration.The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families The biology of proteostasis in aging and disease.The genetic background of Parkinson's disease: current progress and future prospects.Upregulation of Parkin in endophilin mutant mice.LRRK2 localizes to endosomes and interacts with clathrin-light chains to limit Rac1 activation.Is Dysregulation of the HPA-Axis a Core Pathophysiology Mediating Co-Morbid Depression in Neurodegenerative Diseases?The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review.Saskatchewan movement disorders program.Rme-8 depletion perturbs Notch recycling and predisposes to pathogenic signaling.DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.Receptor-mediated Endocytosis 8 Utilizes an N-terminal Phosphoinositide-binding Motif to Regulate Endosomal Clathrin Dynamics.VPS35 and DNAJC13 disease-causing variants in essential tremor The Evolution of Genetics: Alzheimer's and Parkinson's Diseases.Altered Function of the DnaJ Family Cochaperone DNJ-17 Modulates Locomotor Circuit Activity in a Caenorhabditis elegans Seizure Model.Whole-Exome Sequencing in Familial Parkinson Disease.A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins.Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.Protein misfolding in neurodegenerative diseases: implications and strategies.Genetics and genomics of Parkinson's disease.Molecular chaperones and neuronal proteostasis.Retromer-mediated endosomal protein sorting: The role of unstructured domains.The molecular chaperones DNAJB6 and Hsp70 cooperate to suppress α-synuclein aggregation.Targeting the Autophagy/Lysosomal Degradation Pathway in Parkinson's Disease.Endocytic membrane trafficking and neurodegenerative disease.Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.Genetics of movement disorders in the next-generation sequencing era.TMEM230 in Parkinson's disease.

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P2860

DNAJC13 mutations in Parkinson disease

http://www.wikidata.org/entity/Q28658355

description

2014 nî lūn-bûn

@nan

2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2014年の論文

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2014年論文

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2014年論文

@zh-hant

2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

DNAJC13 mutations in Parkinson disease

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DNAJC13 mutations in Parkinson disease

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DNAJC13 mutations in Parkinson disease

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type

label

DNAJC13 mutations in Parkinson disease

@ast

DNAJC13 mutations in Parkinson disease

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DNAJC13 mutations in Parkinson disease

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prefLabel

DNAJC13 mutations in Parkinson disease

@ast

DNAJC13 mutations in Parkinson disease

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DNAJC13 mutations in Parkinson disease

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Human Molecular Genetics

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DNAJC13 mutations in Parkinson disease

@en

P2093

Alex Rajput

http://www.w3.org/2001/XMLSchema#string

Ali H Rajput

http://www.w3.org/2001/XMLSchema#string

Austen J Milnerwood

http://www.w3.org/2001/XMLSchema#string

Brinda Shah

http://www.w3.org/2001/XMLSchema#string

Bruce L Guenther

http://www.w3.org/2001/XMLSchema#string

Chelsea Szu-Tu

http://www.w3.org/2001/XMLSchema#string

Christina Thompson

http://www.w3.org/2001/XMLSchema#string

Christopher A Robinson

http://www.w3.org/2001/XMLSchema#string

Daniel M Evans

http://www.w3.org/2001/XMLSchema#string

Dennis W Dickson

http://www.w3.org/2001/XMLSchema#string

P2860

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

An integrated map of genetic variation from 1,092 human genomes

LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Alpha-synuclein and polyunsaturated fatty acids promote clathrin-mediated endocytosis and synaptic vesicle recycling

Human RME-8 is involved in membrane trafficking through early endosomes

RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Interplay of LRRK2 with chaperone-mediated autophagy

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1794-801

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scholarly article

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1614961

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10.1093/HMG/DDT570

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7

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23

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Carles Vilariño-Güell

Matthew J. Farrer

Wyeth Wasserman

Dayne A Beccano-Kelly

Rachel A Gibson

Igor Tatarnikov

Zbigniew K Wszolek

P577

2014-04-01T00:00:00Z

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258446039

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24218364

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Parkinson's disease

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3999380

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