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
40467930 (PubMed )
Supplement: 41431_2025_1868_MOESM1_ESM.pdf
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
39548192 (PubMed )
Supplement: 10038_2024_1305_MOESM1_ESM.docx
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B et al.
Autophagy, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 2023
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
35281256 (PubMed )
Supplement: DataSheet1.docx
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
A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy.
Nicolau S et al.
Neuromuscular Disorders : Nmd, 2020
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