Validation of the Pathogenic Effect of <i>IGHMBP2</i> Gene Mutations Based on Yeast <i>S. cerevisiae</i> Model.

Rzepnikowska, Weronika; Kaminska, Joanna; Kochanski, Andrzej

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.

Rzepnikowska, Weronika; Kaminska, Joanna; Kochanski, Andrzej.

Rzepnikowska W; Neuromuscular Unit, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.
Kaminska J; Institute of Biochemistry and Biophysics Polish Academy of Sciences, 02-106 Warsaw, Poland.
Kochanski A; Neuromuscular Unit, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.

Int J Mol Sci ; 23(17)2022 Aug 31.

Article en En | MEDLINE | ID: mdl-36077311

Asunto(s)

Atrofia Muscular Espinal; Enfermedades Neurodegenerativas; Proteínas de Unión al ADN/genética; Humanos; Atrofia Muscular Espinal/genética; Mutación; Saccharomyces cerevisiae/genética; Factores de Transcripción/genética

Palabras clave

CMT2S; IGHMBP2 gene; SMARD1; disease model; missense mutations; yeast Saccharomyces cerevisiae

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Enfermedades Neurodegenerativas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article

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