Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6
Variant:p.R120G
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HSPB6

NM_144617.3:p.R120G

Associated Papers

αB-crystallin as a promising target in pathological conditions - A review.

Maksimiuk M et al.

Annals of Agricultural and Environmental Medicine : Aaem, 2020

The role of αB-crystallin in skeletal and cardiac muscle tissues.

Dimauro I et al.

Cell Stress & Chaperones, 2018

Small Heat Shock Proteins and Distal Hereditary Neuropathies.

Nefedova VV et al.

Biochemistry. Biokhimiia, 2015

Crystal structures of alpha-crystallin domain dimers of alphaB-crystallin and Hsp20.

Bagnéris C et al.

Journal of Molecular Biology, 2009

156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands.

Goebel HH et al.

Neuromuscular Disorders : Nmd, 2008

Myopathy-associated alphaB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins.

Simon S et al.

The Journal of Biological Chemistry, 2007

Intrasarcoplasmic amyloidosis impairs proteolytic function of proteasomes in cardiomyocytes by compromising substrate uptake.

Chen Q et al.

Circulation Research, 2005

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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."