Varaico: Literature-Extracted Genetic Variants

Gene:MYO6
Variant:p.D179Y
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MYO6

NM_004999.4:p.D179Y

Associated Papers

How Omecamtiv Modulates Myosin Motion.

Halder R et al.

Biochemistry, 2025

Motor domain phosphorylation increases nucleotide exchange and turns MYO6 into a faster and stronger motor.

de Jonge JJ et al.

Nature Communications, 2024

Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients.

Alkowari M et al.

International Journal of Molecular Sciences, 2022

Myosins and Disease.

Coluccio LM

Advances in Experimental Medicine and Biology, 2020

Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria.

Kruppa AJ et al.

Developmental Cell, 2018

A Novel ENU-Induced Mutation in Myo6 Causes Vestibular Dysfunction and Deafness.

Wong EY et al.

Plos One, 2016

Myosin VI deafness mutation prevents the initiation of processive runs on actin.

Pylypenko O et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Characterization of a novel ENU-generated myosin VI mutant mouse strain with congenital deafness and vestibular dysfunction.

Williams LH et al.

Hearing Research, 2013

Phenotypic and expression analysis of a novel spontaneous myosin VI null mutant mouse.

Mochizuki E et al.

Experimental Animals, 2010

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells.

Hertzano R et al.

Plos Genetics, 2008

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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."