Associated Papers
Stress-Driven Selective Neuronal Vulnerability in Charcot-Marie-Tooth Disease: From Prodromal Pathology to Therapeutic Implications.
Pan X et al.
Cells, 2026
Pathogenic variants in three families with distal muscle involvement.
Weterman MAJ et al.
Neuromuscular Disorders : Nmd, 2023
Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.
Shen X et al.
Biomolecules, 2022
A Charcot-Marie-Tooth-Causing Mutation in HSPB1 Decreases Cell Adaptation to Repeated Stress by Disrupting Autophagic Clearance of Misfolded Proteins.
Zhang X et al.
Cells, 2022
Heat-shock chaperone HSPB1 regulates cytoplasmic TDP-43 phase separation and liquid-to-gel transition.
Lu S et al.
Nature Cell Biology, 2022
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
Wu C et al.
Annals of Clinical and Translational Neurology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Insights Into the Role of Heat Shock Protein 27 in the Development of Neurodegeneration.
Holguin BA et al.
Frontiers in Molecular Neuroscience, 2022
Extracellular vesicle-associated small heat shock proteins as therapeutic agents in neurodegenerative diseases and beyond.
Van den Broek B et al.
Advanced Drug Delivery Reviews, 2021
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Abati E et al.
Annals of Clinical and Translational Neurology, 2021
A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins.
Alderson TR et al.
The Embo Journal, 2021
[Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis].
Chen J et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature.
Taga A et al.
Journal of the Peripheral Nervous System : Jpns, 2020
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X et al.
European Journal of Neurology, 2020
Mutations in HspB1 and hereditary neuropathies.
Muranova LK et al.
Cell Stress & Chaperones, 2020
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
Novel HDAC6 Inhibitors Increase Tubulin Acetylation and Rescue Axonal Transport of Mitochondria in a Model of Charcot-Marie-Tooth Type 2F.
Adalbert R et al.
Acs Chemical Neuroscience, 2020
Small Heat Shock Proteins and Human Neurodegenerative Diseases.
Muranova LK et al.
Biochemistry. Biokhimiia, 2019
Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.
Haidar M et al.
Autophagy, 2019
Local unfolding of the HSP27 monomer regulates chaperone activity.
Alderson TR et al.
Nature Communications, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
Tanabe H et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Characterization of human small heat shock protein HSPB1 α-crystallin domain localized mutants associated with hereditary motor neuron diseases.
Weeks SD et al.
Scientific Reports, 2018
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
HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis.
Kennedy D et al.
Cell Death & Disease, 2017
A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.
Amornvit J et al.
Brain and Behavior, 2017
pH-dependent structural modulation is conserved in the human small heat shock protein HSBP1.
Clouser AF et al.
Cell Stress & Chaperones, 2017
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Lorefice L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Geuens T et al.
Acta Neuropathologica Communications, 2017
Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.
Bouhy D et al.
Journal of Neuromuscular Diseases, 2016
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.
Scarlato M et al.
Journal of the Peripheral Nervous System : Jpns, 2015
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
Overexpression of mutant HSP27 causes axonal neuropathy in mice.
Lee J et al.
Journal of Biomedical Science, 2015
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.
Ylikallio E et al.
Bba Clinical, 2015
A conserved histidine modulates HSPB5 structure to trigger chaperone activity in response to stress-related acidosis.
Rajagopal P et al.
Elife, 2015
Characterization of human small heat shock protein HspB1 that carries C-terminal domain mutations associated with hereditary motor neuron diseases.
Chalova AS et al.
Biochimica Et Biophysica Acta, 2014
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
Høyer H et al.
Biomed Research International, 2014