Associated Papers
Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy.
Putko BN et al.
Neurology. Genetics, 2026
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.
Alhazmi AS et al.
Neurosciences (riyadh, Saudi Arabia), 2025
Pathogenic mechanism of the K141E mutation in HSPB8: Insights from smFRET and simulations.
Montepietra D et al.
Cell Stress & Chaperones, 2025
Autophagy induction by piplartine ameliorates axonal degeneration caused by mutant HSPB1 and HSPB8 in Charcot-Marie-Tooth type 2 neuropathies.
Sisto A et al.
Autophagy, 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
Universal Adapter Protein Bag3 and Small Heat Shock Proteins.
Zamotina MA et al.
Biochemistry. Biokhimiia, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B et al.
Autophagy, 2023
Human Small Heat Shock Protein B8 Inhibits Protein Aggregation without Affecting the Native Folding Process.
Choudhary D et al.
Journal of the American Chemical Society, 2023
The chaperone-assisted selective autophagy complex dynamics and dysfunctions.
Tedesco B et al.
Autophagy, 2023
PINK1 and Parkin Ameliorate the Loss of Motor Activity and Mitochondrial Dysfunction Induced by Peripheral Neuropathy-Associated HSPB8 Mutants in Drosophila Models.
Kang KH et al.
Biomedicines, 2023
HSPB8 counteracts tumor activity of BRAF- and NRAS-mutant melanoma cells by modulation of RAS-prenylation and autophagy.
Cristofani R et al.
Cell Death & Disease, 2022
Combining enhanced sampling and deep learning dimensionality reduction for the study of the heat shock protein B8 and its pathological mutant K141E.
Montepietra D et al.
Rsc Advances, 2022
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].
Li G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.
Lim SO et al.
Genes, 2022
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
HspB8 prevents aberrant phase transitions of FUS by chaperoning its folded RNA-binding domain.
Boczek EE et al.
Elife, 2021
Small heat shock proteins in neurodegenerative diseases.
Vendredy L et al.
Cell Stress & Chaperones, 2020
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.
Martin PB et al.
Brain Research, 2020
Small Heat Shock Proteins and Human Neurodegenerative Diseases.
Muranova LK et al.
Biochemistry. Biokhimiia, 2019
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.
Al-Tahan S et al.
Neurology. Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Drosophila Hsp67Bc hot-spot variants alter muscle structure and function.
Jabłońska J et al.
Cellular and Molecular Life Sciences : Cmls, 2018
234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017.
Weihl CC et al.
Neuromuscular Disorders : Nmd, 2018
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Bouhy D et al.
Acta Neuropathologica, 2018
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
Cortese A et al.
European Journal of Neurology, 2018
An interaction study in mammalian cells demonstrates weak binding of HSPB2 to BAG3, which is regulated by HSPB3 and abrogated by HSPB8.
Morelli FF et al.
Cell Stress & Chaperones, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A et al.
Human Mutation, 2017
L-3-n-Butylphthalide Protects HSPB8 K141N Mutation-Induced Oxidative Stress by Modulating the Mitochondrial Apoptotic and Nrf2 Pathways.
Yang XD et al.
Frontiers in Neuroscience, 2017
Neuromuscular Manifestations in Mitochondrial Diseases in Children.
Nascimento A et al.
Seminars in Pediatric Neurology, 2016
The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity.
Crippa V et al.
Human Molecular Genetics, 2016
Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation.
Jokela ME et al.
Journal of Neurology, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
Ghaoui R et al.
Neurology, 2016
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
Molecular chaperones and neuronal proteostasis.
Smith HL et al.
Seminars in Cell & Developmental Biology, 2015
Performance of protein disorder prediction programs on amino acid substitutions.
Ali H et al.
Human Mutation, 2014