Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC7
Variant:p.E425K
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DNAJC7

NM_003315.4:p.E425K

Associated Papers

Holding but not folding: How a single charge flip uncouples the DNAJC7-Hsp70 relay in amyotrophic lateral sclerosis.

Chiang TS et al.

The Febs Journal, 2026

The ALS-associated E425K mutation uncouples DNAJC7 from the Hsp70 chaperone cycle.

Elmaleh B et al.

The Febs Journal, 2026

Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS.

Wang S et al.

Molecular Neurobiology, 2024

DnaJC7 specifically regulates tau seeding.

Perez VA et al.

Elife, 2023

DnaJC7 in Amyotrophic Lateral Sclerosis.

Dilliott AA et al.

International Journal of Molecular Sciences, 2022

A Novel Potentially Pathogenic Rare Variant in the DNAJC7 Gene Identified in Amyotrophic Lateral Sclerosis Patients From Mainland China.

Wang M et al.

Frontiers in Genetics, 2020

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Farhan SMK et al.

Nature Neuroscience, 2019

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."