Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.S187L
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HSPB1

NM_001540.5:p.S187L

Associated Papers

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

Pan X et al.

Cells, 2026

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

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › 0_position

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

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

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

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

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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."