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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
Version:
Publisher's version

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Publisher copy:
10.1093/bioinformatics/btl022

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Institution:
University of Oxford
Research group:
MRC Functional Genetics Unit
Department:
Medical Sciences Division - Physiology,Anatomy and Genetics,Department of
Publisher:
Oxford University Press Publisher's website
Journal:
Bioinformatics Journal website
Volume:
22
Issue:
9
Pages:
1031-1035
Publication date:
2006-05-05
DOI:
EISSN:
1460-2059
ISSN:
1367-4803
URN:
uuid:359d21be-46a5-4a6d-aa00-dd5405147f51
Local pid:
ora:7771

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