Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.H31Q
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DNAJB6

NM_058246.4:p.H31Q

Associated Papers

Multiplex neurodegeneration proteotoxicity platform reveals DNAJB6 promotes non-toxic FUS condensate gelation and inhibits neurotoxicity.

Resnick SJ et al.

Nature Communications, 2025

Mrj is a chaperone of the Hsp40 family that regulates Orb2 oligomerization and long-term memory in Drosophila.

Desai M et al.

Plos Biology, 2024

The HSP40 family chaperone isoform DNAJB6b prevents neuronal cells from tau aggregation.

Chang YL et al.

Bmc Biology, 2023

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.

Inoue M et al.

Acta Neuropathologica, 2023

Atypical nuclear envelope condensates linked to neurological disorders reveal nucleoporin-directed chaperone activities.

Prophet SM et al.

Nature Cell Biology, 2022

Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.

Bengoechea R et al.

The Journal of Clinical Investigation, 2020

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Palmio J et al.

Neuromuscular Disorders : Nmd, 2020

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.

Meister-Broekema M et al.

Nature Communications, 2018

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones.

Udan-Johns M et al.

Human Molecular Genetics, 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."