A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.

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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Bibliographic Details
Main Authors: Ioannis Gavvovidis, Isabell Rost, Marc Trimborn, Frank J Kaiser, Josephine Purps, Constanze Wiek, Helmut Hanenberg, Heidemarie Neitzel, Detlev Schindler
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3431399?pdf=render

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http://europepmc.org/articles/PMC3431399?pdf=render

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