منابع مشابه
Point 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 کاملA de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype
Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces. One of the human genes responsible for lissencephaly is the platelet-activating factor acetylhydrolase 1b gene (PAFAH1B; also known as LIS1) located on 17p13.3. Patients with heterozygous deletion of this...
متن کاملInteraction 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 کاملAn infant with isolated Lissencephaly.
Lissencephaly or agyria is a prototype of disorders of neuronal migration, a rare type of hereditary malformation of the brain, which manifests with smooth cerebral surface, poorly defined sylvian fissures with thickened cerebral cortical mantle. A case of an infant with isolated variety is presented highlighting some of the major associated clinical features, which include profound intellectua...
متن کاملThe location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Lissencephaly is a cortical malformation secondary to impaired neuronal migration resulting in mental retardation, epilepsy and motor impairment. It shows a severity spectrum from agyria with a severely thickened cortex to posterior band heterotopia only. The LIS1 gene on 17p13.3 encodes a 45 kDa protein named PAFAH1B1 containing seven WD40 repeats. This protein is required for optimal neuronal...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2009
ISSN: 0003-9942
DOI: 10.1001/archneurol.2009.149