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Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly
Joint Authors
Barbelanne, Marine
Tsang, William Y.
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-13, 13 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-12-07
Country of Publication
Egypt
No. of Pages
13
Main Subjects
Abstract EN
Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability.
MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism.
In this review, we discuss the key proteins mutated in MCPH.
To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation or are present at the centrosome, an organelle crucial for mitotic spindle assembly and cell division.
We highlight recent findings on MCPH proteins with regard to their role in cell cycle progression, centrosome function, and early brain development.
American Psychological Association (APA)
Barbelanne, Marine& Tsang, William Y.. 2014. Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly. BioMed Research International،Vol. 2014, no. 2014, pp.1-13.
https://search.emarefa.net/detail/BIM-1016359
Modern Language Association (MLA)
Barbelanne, Marine& Tsang, William Y.. Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly. BioMed Research International No. 2014 (2014), pp.1-13.
https://search.emarefa.net/detail/BIM-1016359
American Medical Association (AMA)
Barbelanne, Marine& Tsang, William Y.. Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-13.
https://search.emarefa.net/detail/BIM-1016359
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1016359