Associated Papers
Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.
Rizzuti M et al.
Stem Cell Reports, 2025
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
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 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
RNA Interference Targeting Small Heat Shock Protein B8 Failed to Improve Distal Hereditary Motor Neuropathy in the Mouse Model.
Vendredy L et al.
The Journal of Gene Medicine, 2025
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 2024
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
Van Lent J et al.
Experimental & Molecular Medicine, 2024
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
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
Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules.
Cui Q et al.
Cell, 2023
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Jennings MJ et al.
Brain : a Journal of Neurology, 2022
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
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Biological networks and complexity in early-onset motor neuron diseases.
Butchbach MER et al.
Frontiers in Neurology, 2022
Heat Shock Protein 22 in Physiological and Pathological Hearts: Small Molecule, Large Potentials.
Sun X et al.
Cells, 2021
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
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction.
Van Lent J et al.
Brain : a Journal of Neurology, 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
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
Small Heat Shock Proteins and Human Neurodegenerative Diseases.
Muranova LK et al.
Biochemistry. Biokhimiia, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
HSPB8 and BAG3 cooperate to promote spatial sequestration of ubiquitinated proteins and coordinate the cellular adaptive response to proteasome insufficiency.
Guilbert SM et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
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
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
Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.
Li LX et al.
Oncotarget, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
Ghaoui R et al.
Neurology, 2016
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.
Lupo V et al.
Frontiers in Molecular Biosciences, 2016
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Molecular chaperones and neuronal proteostasis.
Smith HL et al.
Seminars in Cell & Developmental Biology, 2015
A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L.
Zhang R et al.
Neural Regeneration Research, 2014
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
Nicorandil improves electrical remodelling, leading to the prevention of electrically induced ventricular tachyarrhythmia in a mouse model of desmin-related cardiomyopathy.
Matsushita N et al.
Clinical and Experimental Pharmacology & Physiology, 2014
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.
Nakhro K et al.
Neuromuscular Disorders : Nmd, 2013