Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
摘要：
Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioral disturbances. Here we identified a locus associated with Joubert syndrome, JBTS3, on chromosome 6q23.2-q23.3 and found three deleterious mutations in AHI1, the first gene to be associated with Joubert syndrome. AHI1 is most highly expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage. Therefore, changes in AHI1 may have been important in the evolution of human-specific motor behaviors.
展开
关键词：
Animals Humans Mice Brain Brain Stem Cerebellum Syndrome Abnormalities, Multiple Adaptor Proteins, Signal Transducing Nerve Tissue Proteins
DOI：
10.1038/ng1419
被引量：
年份：
2004
BMJ
Springer
Nature
(全网免费下载)
Nature
国家科技图书文献中心
(权威机构)
查看更多
EBSCO
万方医学
Semantic Scholar
Semantic Scholar
(全网免费下载)
Ingenta
dx.doi.org
Europe PMC
Oxford Univ Press
NCBI
NCBI
The Lancet
dialnet.unirioja.es
ProQuest
ResearchGate
(全网免费下载)
ResearchGate
EBSCO
EBSCO
jcb.rupress.org
eje-online.org
jneurosci.org
walshlab.org
(全网免费下载)
ftp.palgrave-journals.com
d.scholar.cnki.net
walshlab.org
(全网免费下载)
subjectpool.com
(全网免费下载)
embojnl.embopress.org
mendeley.com
onAcademic
subjectpool.com
(全网免费下载)
pediatrics.aappublications.org
mysciencework.com
fasebj.org
www.socolar.com
jasn.asnjournals.org
rspb.royalsocietypublishing.org
pubfacts.com
scienceopen.com
ajnr.org
research-information.bristol.ac.uk
readcube.com
cshperspectives.cshlp.org
学术范
学术范
(全网免费下载)
Nature
(全网免费下载)
Semantic Scholar
(全网免费下载)
ResearchGate
(全网免费下载)
walshlab.org
(全网免费下载)
subjectpool.com
(全网免费下载)
walshlab.org
(全网免费下载)
subjectpool.com
(全网免费下载)
学术范
(全网免费下载)
通过文献互助平台发起求助，成功后即可免费获取论文全文。
相似文献
参考文献
引证文献
来源期刊
引用走势
站内活动
辅助模式
引用
文献可以批量引用啦~
欢迎点我试用！
