Associated Papers
O-GlcNAc Modification Alters the Chaperone Activity of HSP27 Charcot-Marie-Tooth Type 2 (CMT2) Variants in a Mutation-Selective Fashion.
Moon SP et al.
Acs Chemical Biology, 2023
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Ceylan GG et al.
Revista Da Associacao Medica Brasileira (1992), 2023
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Gemelli C et al.
Life (basel, Switzerland), 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
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
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
Yalcintepe S et al.
Turkish Neurosurgery, 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
Small Heat Shock Proteins and Human Neurodegenerative Diseases.
Muranova LK et al.
Biochemistry. Biokhimiia, 2019
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
Proline isomerization in the C-terminal region of HSP27.
Alderson TR et al.
Cell Stress & Chaperones, 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
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
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.
Ylikallio E et al.
Bba Clinical, 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
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
Rossor AM et al.
Journal of the Peripheral Nervous System : Jpns, 2012