Associated Papers
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle.
Inoue M
Journal of Human Genetics, 2025
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 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
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
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
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
A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.
Tsai PC et al.
Clinical Genetics, 2017
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
Sandell S et al.
Acta Neuropathologica Communications, 2016
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
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
Couthouis J et al.
Neuromuscular Disorders : Nmd, 2014
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
Sato T et al.
Neuromuscular Disorders : Nmd, 2013