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Journal article

A novel domain suggests a ciliary function for ASPM, a brain size determining gene

Abstract:

The N-terminal domain of abnormal spindle-like microcephaly-associated protein (ASPM) is identified as a member of a novel family of ASH (ASPM, SPD-2, Hydin) domains. These domains are present in proteins associated with cilia, flagella, the centrosome and the Golgi complex, and in Hydin and OCRL whose deficiencies are associated with hydrocephalus and Lowe oculocerebrorenal syndrome, respectively. Genes encoding ASH domains thus represent good candidates for primary ciliary dyskinesias. <...>

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/bioinformatics/btl022

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Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Research group:
MRC Functional Genetics Unit
Role:
Author
Publisher:
Oxford University Press Publisher's website
Journal:
Bioinformatics Journal website
Volume:
22
Issue:
9
Pages:
1031-1035
Publication date:
2006-05-01
DOI:
EISSN:
1460-2059
ISSN:
1367-4803
Language:
English
Keywords:
Subjects:
UUID:
uuid:359d21be-46a5-4a6d-aa00-dd5405147f51
Local pid:
ora:7771
Deposit date:
2014-02-03

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