Journal article icon

Journal article

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Abstract:

We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a hyperactive N-ethyl-N-nitrosourea (ENU) induced mouse mutant with abnormal lamination of the hippocampus. Neuroanatomical similarities between the Tuba1a mutant mouse and mice deficient for Doublecortin (Dcx) and Lis1 genes, and the well-established functional interaction between DCX and microtubules (MTs), led us to hypothesize that mutations in TUBA1A (TUBA3, previous symbol), the human homolo...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1002/humu.20572

Authors


Expand authors...
Journal:
Human mutation
Volume:
28
Issue:
11
Pages:
1055-1064
Publication date:
2007-11-01
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
Source identifiers:
2329
Language:
English
Keywords:
Pubs id:
pubs:2329
UUID:
uuid:145189dd-344b-466c-8f77-a4a4ef9491cb
Local pid:
pubs:2329
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP