Interaction between LIS1 and doublecortin, two lissencephaly gene products
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چکیده
منابع مشابه
Interaction between LIS1 and doublecortin, two lissencephaly gene products.
Mutations in either LIS1 or DCX are the most common cause for type I lissencephaly. Here we report that LIS1 and DCX interact physically both in vitro and in vivo. Epitope-tagged DCX transiently expressed in COS cells can be co-immunoprecipitated with endogenous LIS1. Furthermore, endogenous DCX could be co-immunoprecipitated with endogenous LIS1 in embryonic brain extracts, demonstrating an in...
متن کاملPoint mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an arrest of neuronal migration at 9-13 weeks gestation. It has been observed in several malformation syndromes including Miller-Dieker syndrome (MDS) and isolated lissencephaly sequence (ILS). A gene containing beta-transducin like repeats, now known as LIS1, was previously...
متن کاملLissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration.
Miller-Dieker lissencephaly syndrome (MDS) is a human developmental brain malformation caused by neuronal migration defects resulting in abnormal layering of the cerebral cortex. LIS1, the gene defective in MDS, encodes a subunit of brain platelet-activating factor (PAF) acetylhydrolase which inactivates PAF, a neuroregulatory molecule. We have isolated murine cDNAs homologous to human LIS1 and...
متن کاملClinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Classical lissencephaly (LIS) and subcortical band heterotopia (SBH) are related cortical malformations secondary to abnormal migration of neurons during early brain development. Approximately 60% of patients with classical LIS, and one patient with atypical SBH have been found to have deletions or mutations of the LIS1 gene, located on 17p13.3. This gene encodes the LIS1 or PAFAH1B1 protein wi...
متن کاملRoles of Lissencephaly Gene, LIS1, in Regulating Cytoplasmic Dynein Functions: a Dissertation
Spontaneous mutations in the human LIS 1 gene are responsible for Type I lissencephaly (" smooth brain ). The distribution of neurons within the cerebral cortex of lissencephalic children appears randomized, probably owing to a defect in neuronal migration during early development. LIS 1 has been implicated in the dynein pathway by genetic analyses in fungi. We previously reported that the vert...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2000
ISSN: 0964-6906,1460-2083
DOI: 10.1093/oxfordjournals.hmg.a018911