Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.F91L
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DNAJB6

NM_058246.4:p.F91L

Associated Papers

A low-complexity linker as a driver of intra- and intermolecular interactions in DNAJB chaperones.

Hobbs B et al.

Nature Communications, 2025

Tertiary structure and conformational dynamics of the anti-amyloidogenic chaperone DNAJB6b at atomistic resolution.

Adupa V et al.

Nature Communications, 2024

DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones.

Abayev-Avraham M et al.

Nature Communications, 2023

LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.

Findlay AR et al.

Annals of Clinical and Translational Neurology, 2023

36427278 (PubMed )
Supplement: ACN3-10-181-s001.xlsx › LGMDD1_systematic_lit_review

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

Inoue M et al.

Acta Neuropathologica, 2023

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient.

Ji G et al.

Frontiers in Genetics, 2022

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Chakravorty S et al.

Frontiers in Neurology, 2020

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

Meister-Broekema M et al.

Nature Communications, 2018

Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.

Finsterer J

Yonsei Medical Journal, 2018

The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.

Kim K et al.

Yonsei Medical Journal, 2018

Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.

Kim K et al.

Yonsei Medical Journal, 2018

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH et al.

European Journal of Neurology, 2018

A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.

Tsai PC et al.

Clinical Genetics, 2017

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies.

Ruggieri A et al.

Frontiers in Molecular Biosciences, 2016

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Palmio J et al.

Neuromuscular Disorders : Nmd, 2015

A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.

Nam TS et al.

Neuromuscular Disorders : Nmd, 2015

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Ruggieri A et al.

Acta Neuropathologica Communications, 2015

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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."