Associated Papers
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
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
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
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
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
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
HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.
Heilman PL et al.
Experimental Neurology, 2017
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
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
Kalmar B et al.
Human Molecular Genetics, 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
Oligomerization and chaperone-like activity of Drosophila melanogaster small heat shock protein DmHsp27 and three arginine mutants in the alpha-crystallin domain.
Moutaoufik MT et al.
Cell Stress & Chaperones, 2017
pH-dependent structural modulation is conserved in the human small heat shock protein HSBP1.
Clouser AF et al.
Cell Stress & Chaperones, 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
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
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
Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.
Srivastava AK et al.
Neurobiology of Disease, 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
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
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin KP et al.
Plos One, 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
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
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
Houlden H et al.
Neurology, 2008
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.
Chung KW et al.
Experimental & Molecular Medicine, 2008
Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).
James PA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
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
Charcot Marie Tooth disease 2F and a novel mutation from India.
Ghodasara MK et al.
Neurology India, 0