Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics

Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics

Heterozygous dominant mutations in the ubiquitously produced cytoskeletal β–actin isoform lead to a broad range of human disease phenotypes, which are currently classified as three distinct clinical entities termed Baraitser-Winter–Cerebrofrontofacial syndrome (BWCFF), ACTB–associated pleiotropic ma...

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Bibliographic Details
Main Authors: Johannes N. Greve, Frederic V. Schwäbe, Thomas Pokrant, Jan Faix, Nataliya Di Donato, Manuel H. Taft, Dietmar J. Manstein
Format: Article
Language:English
Published: Elsevier 2022-04-01
Series:European Journal of Cell Biology
Subjects:
Actinopathy
Allostery
Cofilin
Cytoskeleton
Myosin
Profilin
Online Access:http://www.sciencedirect.com/science/article/pii/S017193352200019X

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http://www.sciencedirect.com/science/article/pii/S017193352200019X

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