In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Here we report the functional assessment of two novel deafness-associated γ-actin mutants, K118N and E241K, in a spectrum of different situations with increasing biological complexity by combining biochemical and cell biological analysis in yeast and mammalian cells. Our in vivo experiments showed t...

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Veröffentlicht in:	Human molecular genetics 2009-08, Vol.18 (16), p.3075-3089
Hauptverfasser:	Morín, Matías, Bryan, Keith E., Mayo-Merino, Fernando, Goodyear, Richard, Mencía, Ángeles, Modamio-Høybjør, Silvia, del Castillo, Ignacio, Cabalka, Jessica M., Richardson, Guy, Moreno, Felipe, Rubenstein, Peter A., Moreno-Pelayo, Miguel Ángel
Format:	Artikel
Sprache:	eng
Schlagworte:	Actins - chemistry Actins - genetics Actins - metabolism Animals Base Sequence Biological and medical sciences Cells, Cultured Cytoskeleton - metabolism Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Hair Cells, Auditory - metabolism Hearing Loss - genetics Hearing Loss - metabolism Humans Mice Molecular and cellular biology Molecular Conformation Molecular Sequence Data Mutation, Missense NIH 3T3 Cells Pedigree Yeasts - genetics Yeasts - metabolism
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