Associated Papers
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.
Tedesco B et al.
European Journal of Human Genetics : Ejhg, 2025
The Spectrum of Small Heat Shock Protein B8 (HSPB8)-Associated Neuromuscular Disorders.
Rashed HR et al.
International Journal of Molecular Sciences, 2025
Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies.
Yang G et al.
Journal of Human Genetics, 2025
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B et al.
Autophagy, 2023
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
Inoue-Shibui A et al.
Journal of Human Genetics, 2021
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.
Al-Tahan S et al.
Neurology. Genetics, 2019
Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
Adriaenssens E et al.
Brain : a Journal of Neurology, 2017
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Echaniz-Laguna A et al.
Acta Neuropathologica, 2017
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