A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells

Biallelic mutations in MCPH1 cause primary microcephaly (MCPH) with the cellular phenotype of defective chromosome condensation. MCPH1 encodes a multifunctional protein that notably is involved in brain development, regulation of chromosome condensation, and DNA damage response. In the present studi...

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Detalles Bibliográficos
Autores principales: Gavvovidis, Ioannis, Rost, Isabell, Trimborn, Marc, Kaiser, Frank J., Purps, Josephine, Wiek, Constanze, Hanenberg, Helmut, Neitzel, Heidemarie, Schindler, Detlev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431399/
https://www.ncbi.nlm.nih.gov/pubmed/22952573
http://dx.doi.org/10.1371/journal.pone.0040387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431399/
https://www.ncbi.nlm.nih.gov/pubmed/22952573
http://dx.doi.org/10.1371/journal.pone.0040387

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