Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.Q789*
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DNAJC6

NM_001256864.2:p.Q789*

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

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

Jacquemyn J et al.

Npj Parkinson's Disease, 2023

Levodopa responsive-generalized dystonic spells and moaning in DNAJC6 related Juvenile Parkinson's disease.

Mittal SO

Parkinsonism & Related Disorders, 2020

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

Ng J et al.

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

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

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

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

Shi C et al.

Neuroscience Letters, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."