Associated Papers
Stress-Driven Selective Neuronal Vulnerability in Charcot-Marie-Tooth Disease: From Prodromal Pathology to Therapeutic Implications.
Pan X et al.
Cells, 2026
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family.
Homa K et al.
Folia Medica Cracoviensia, 2023
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
[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
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
Local unfolding of the HSP27 monomer regulates chaperone activity.
Alderson TR et al.
Nature Communications, 2019
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
HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis.
Kennedy D et al.
Cell Death & Disease, 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
Overexpression of mutant HSP27 causes axonal neuropathy in mice.
Lee J et al.
Journal of Biomedical Science, 2015
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.
Boncoraglio A et al.
The International Journal of Biochemistry & Cell Biology, 2012
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
Capponi S et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.
Almeida-Souza L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.
Almeida-Souza L et al.
The Journal of Biological Chemistry, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation.
Ikeda Y et al.
Journal of the Neurological Sciences, 2009
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.
Chung KW et al.
Experimental & Molecular Medicine, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I et al.
Brain : a Journal of Neurology, 2008
Gene expression analysis of the murine model of amyotrophic lateral sclerosis: studies of the Leu126delTT mutation in SOD1.
Fukada Y et al.
Brain Research, 2007
Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants.
Fontaine JM et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2006
The small heat shock proteins and their role in human disease.
Sun Y et al.
The Febs Journal, 2005
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Evgrafov OV et al.
Nature Genetics, 2004
Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites.
Benndorf R et al.
Mutation Research. Reviews in Mutation Research, 0
Charcot Marie Tooth disease 2F and a novel mutation from India.
Ghodasara MK et al.
Neurology India, 0