Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC5
Variant:p.C128Y
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DNAJC5

NM_025219.3:p.C128Y

Associated Papers

Uncovering the role of the Hsp40 family member cysteine string protein-α in mouse platelets.

Smith AN et al.

Blood Advances, 2025

Cysteine string protein α and a link between rare and common neurodegenerative dementias.

Rosene MJ et al.

Npj Dementia, 2025

Proximity labelling reveals effects of disease-causing mutation on the DNAJC5/cysteine string protein α interactome.

Barker E et al.

The Biochemical Journal, 2024

A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic.

Barker E et al.

Human Molecular Genetics, 2023

The roles of HSP40/DNAJ protein family in neurodegenerative diseases.

He Y et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022

Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation.

Huang Q et al.

Frontiers in Aging Neuroscience, 2022

High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Cho SY et al.

Experimental & Molecular Medicine, 2017

28408749 (PubMed )
Supplement: emm20179x1.xlsx › Table_S3
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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."