Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.R927G
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DNAJC6

NM_001256864.2:p.R927G

Associated Papers

Dysfunction of synaptic endocytic trafficking in Parkinson's disease.

Ng XY et al.

Neural Regeneration Research, 2024

Downregulation of Protease Cathepsin D and Upregulation of Pathologic α-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons.

Chiu CC et al.

International Journal of Molecular Sciences, 2024

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.

Abela L et al.

Brain : a Journal of Neurology, 2024

Mouse models for inherited monoamine neurotransmitter disorders.

Thöny B et al.

Journal of Inherited Metabolic Disease, 2024

Mutations in Parkinsonism-linked endocytic proteins synaptojanin1 and auxilin have synergistic effects on dopaminergic axonal pathology.

Ng XY et al.

Npj Parkinson's Disease, 2023

Parkinsonism mutations in DNAJC6 cause lipid defects and neurodegeneration that are rescued by Synj1.

Jacquemyn J et al.

Npj Parkinson's Disease, 2023

Rodent models based on endolysosomal genes involved in Parkinson's disease.

Sanchiz-Calvo M et al.

Current Opinion in Neurobiology, 2022

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G et al.

Biomedicines, 2021

Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Zou L et al.

Frontiers in Integrative Neuroscience, 2021

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

Ng J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Smolders S et al.

Acta Neuropathologica Communications, 2020

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX et al.

Brain : a Journal of Neurology, 2019

31324919 (PubMed )
Supplement: awz191_supplementary_data.pdf

Role of the endolysosomal system in Parkinson's disease.

Vidyadhara DJ et al.

Journal of Neurochemistry, 2019

DNAJC proteins and pathways to parkinsonism.

Roosen DA et al.

The Febs Journal, 2019

Synaptic, Mitochondrial, and Lysosomal Dysfunction in Parkinson's Disease.

Nguyen M et al.

Trends in Neurosciences, 2019

Haplotype Analysis on the Relationship of the DNAJC6 Gene with Early-Onset Parkinson's Disease Risk in a Chinese Population.

Shen T et al.

Journal of Parkinson's Disease, 2019

DNAJ Proteins in neurodegeneration: essential and protective factors.

Zarouchlioti C et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A

Current Neurology and Neuroscience Reports, 2017

The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease.

Gorenberg EL et al.

Frontiers in Neuroscience, 2017

DnaJ/Hsp40 Family and Parkinson's Disease.

Hasegawa T et al.

Frontiers in Neuroscience, 2017

DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population.

Shi C et al.

Neuroscience Letters, 2016

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Olgiati S et al.

Annals of Neurology, 2016

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