MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane

MYH9-related disease (MYH9-RD) is a rare, autosomal dominant disorder caused by mutations in MYH9, the gene encoding the actin-activated motor protein non-muscle myosin IIA (NMIIA). MYH9-RD patients suffer from bleeding syndromes, progressive kidney disease, deafness, and/or cataracts, but the impac...

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Publicado en:Am J Hematol
Autores principales: Smith, Alyson S., Pal, Kasturi, Nowak, Roberta B., Demenko, Anastasiya, Zaninetti, Carlo, Da Costa, Lydie, Favier, Remi, Pecci, Alessandro, Fowler, Velia M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6510596/
https://ncbi.nlm.nih.gov/pubmed/30916803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.25472
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