Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB2
Variant:p.Y5C
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DNAJB2

NM_006736.6:p.Y5C

Associated Papers

Structural-functional relevance of DNAJBs in protein aggregation and associated neurodegenerative diseases.

Fatima S et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Sarparanta J 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

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

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

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

Sanchez E et al.

Human Mutation, 2016

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Lupo V et al.

Frontiers in Molecular Biosciences, 2016

Molecular chaperones and neuronal proteostasis.

Smith HL et al.

Seminars in Cell & Developmental Biology, 2015

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Gess B et al.

Neurology, 2014

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

Schabhüttl M et al.

Journal of Neurology, 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."