Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.R267Splc
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DNAJC6

NM_001256864.2:p.R267Splc

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.

Busquets O et al.

Biorxiv : the Preprint Server for Biology, 2025

38405931 (PubMed )
Supplement: NIHPP2024.02.12.579917v2-supplement-10.pdf

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

Parkinson's disease - genetic cause.

Cherian A et al.

Current Opinion in Neurology, 2023

Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.

Spagnoli C et al.

International Journal of Molecular Sciences, 2023

Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.

Pillay NS et al.

Frontiers in Genetics, 2022

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G et al.

Biomedicines, 2021

Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations.

Wulansari N et al.

Science Advances, 2021

Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Zou L et al.

Frontiers in Integrative Neuroscience, 2021

Genetics of Parkinson's disease.

Cherian A et al.

Acta Neurologica Belgica, 2020

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Hengel H et al.

European Journal of Human Genetics : Ejhg, 2020

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 basis of neurodevelopmental disorders in 103 Jordanian families.

Froukh T et al.

Clinical Genetics, 2020

DNAJC proteins and pathways to parkinsonism.

Roosen DA et al.

The Febs Journal, 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

DnaJ/Hsp40 Family and Parkinson's Disease.

Hasegawa T et al.

Frontiers in Neuroscience, 2017

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

Olgiati S et al.

Annals of Neurology, 2016

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.

Verstraeten A et al.

Trends in Genetics : Tig, 2015

Application of next-generation sequencing technologies in Neurology.

Jiang T et al.

Annals of Translational Medicine, 2014

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Sheerin UM et al.

Movement Disorders Clinical Practice, 2014

Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

Jesús S et al.

Parkinsonism & Related Disorders, 2014

Genetics and genomics of Parkinson's disease.

Lin MK et al.

Genome Medicine, 2014

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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."