Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.R806*
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DNAJC6

NM_001256864.2:p.R806*

Associated Papers

Dysfunction of synaptic endocytic trafficking in Parkinson's disease.

Ng XY et al.

Neural Regeneration Research, 2024

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

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

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

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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."