Associated Papers
Stress-Driven Selective Neuronal Vulnerability in Charcot-Marie-Tooth Disease: From Prodromal Pathology to Therapeutic Implications.
Pan X et al.
Cells, 2026
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.
Taniguchi T et al.
Journal of Human Genetics, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Abati E et al.
Annals of Clinical and Translational Neurology, 2021
ATG9A regulates proteostasis through reticulophagy receptors FAM134B and SEC62 and folding chaperones CALR and HSPB1.
Sheehan BK et al.
Iscience, 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
Small Heat Shock Proteins and Human Neurodegenerative Diseases.
Muranova LK et al.
Biochemistry. Biokhimiia, 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
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
pH-dependent structural modulation is conserved in the human small heat shock protein HSBP1.
Clouser AF et al.
Cell Stress & Chaperones, 2017
Oligomeric structure and chaperone-like activity of Drosophila melanogaster mitochondrial small heat shock protein Hsp22 and arginine mutants in the alpha-crystallin domain.
Dabbaghizadeh A et al.
Cell Stress & Chaperones, 2017
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1.
Maeda K et al.
Internal Medicine (tokyo, Japan), 2014
Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy.
Nefedova VV et al.
Archives of Biochemistry and Biophysics, 2013
Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.
Nefedova VV et al.
Biochimie, 2013
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
Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins.
Carra S et al.
Progress in Neurobiology, 2012
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
Abnormal assemblies and subunit exchange of alphaB-crystallin R120 mutants could be associated with destabilization of the dimeric substructure.
Michiel M et al.
Biochemistry, 2009
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