Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.R127L
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HSPB1

NM_001540.5:p.R127L

Associated Papers

Stress-Driven Selective Neuronal Vulnerability in Charcot-Marie-Tooth Disease: From Prodromal Pathology to Therapeutic Implications.

Pan X et al.

Cells, 2026

Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.

Shen X et al.

Biomolecules, 2022

Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.

Benndorf R et al.

Cell Stress & Chaperones, 2022

35678958 (PubMed )
Supplement: 12192_2022_1268_MOESM2_ESM.pdf

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

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Abati E et al.

Annals of Clinical and Translational Neurology, 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

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Hsu YH et al.

Annals of Clinical and Translational Neurology, 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

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.

Ylikallio E et al.

Bba Clinical, 2015

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H et al.

Biomed Research International, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."