Results 201 to 210 of about 8,390 (226)
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LIS1 is a microtubule‐associated phosphoprotein
European Journal of Biochemistry, 1999Lissencephaly, a severe brain malformation, may be caused by mutations in the LIS1 gene. LIS1 encodes a microtubule‐associated protein (MAP) that is also part of the enzyme complex, platelet‐activating factor acetylhydrolase. LIS1 is also found in a complex with two protein kinases; a T‐cell Tat‐associated kinase, which contains casein‐dependant kinase
Sergei Nekhai +4 more
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Interaction of reelin signaling and Lis1 in brain development [PDF]
Nature Genetics, 2003 Loss-of-function mutations in RELN (encoding reelin) or PAFAH1B1 (encoding LIS1) cause lissencephaly, a human neuronal migration disorder. In the mouse, homozygous mutations in Reln result in the reeler phenotype, characterized by ataxia and disrupted cortical layers.
Uwe Beffert +2 more
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Journal of Child Neurology, 2011
Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration.
Jason Lockrow +4 more
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Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration.
Jason Lockrow +4 more
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Nature Cell Biology, 2020
Active transport along microtubules by molecular motors is a crucial cellular process that is disrupted in human diseases. Single-molecule studies from three independent groups reveal a new molecular mechanism for how cells control the activity of the complex microtubule motor cytoplasmic dynein via the neurodevelopmental protein LIS1.
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Active transport along microtubules by molecular motors is a crucial cellular process that is disrupted in human diseases. Single-molecule studies from three independent groups reveal a new molecular mechanism for how cells control the activity of the complex microtubule motor cytoplasmic dynein via the neurodevelopmental protein LIS1.
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Expression of chLIS1, a chicken homolog of LIS1
Development Genes and Evolution, 2000We have isolated the chicken LIS1 homolog, chLIS1, with DNA sequence similarity of over 68% to the human cDNA and 99% amino acid identity. Additionally, we describe the pattern of chLIS1 expression in the chicken embryo. The early embryonic expression is highly specific to the developing nervous system, whereas later the expression is more widespread.
Orit Shmueli, Orly Reiner
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LIS1: cellular function of a disease-causing gene
Trends in Cell Biology, 2001Brain development is severely defective in children with lissencephaly. The highly organized distribution of neurons within the cerebral cortex is disrupted, a condition that might arise from improper migration of neuronal progenitors to their cortical destinations. Type I lissencephaly results from mutations in the LIS1 gene, which has been implicated
Vallee, Richard B. +2 more
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Increased LIS1 expression affects human and mouse brain development [PDF]
Nature Genetics, 2009 Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. We identified seven unrelated individuals with submicroscopic duplication in 17p13.3 involving the PAFAH1B1 and/or YWHAE genes, and using a 'reverse ...
Weimin Bi, Tamar Sapir, Feng Zhang
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Lis1 Immunofluorescence Reveals Rings and Lattices
Microscopy and Microanalysis, 2004Extended abstract of a paper presented at Microscopy and Microanalysis 2004 in Savannah, Georgia, USA, August 1–5, 2004.
Deanna S. Smith +2 more
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Analysis of lissencephaly‐causing LIS1 mutations
European Journal of Biochemistry, 1999Mutations in the LIS1 gene may result in severe abnormalities of brain cortical layering known as lissencephaly. Most lissencephaly‐causing LIS1 mutations are deletions that encompass the entire gene, therefore the mechanism of the disease is regarded as haploinsufficiency.
Aviv Cahana +9 more
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Involvement of platelet‐activating factor and LIS1 in neuronal migration
European Journal of Neuroscience, 2003AbstractPlatelet‐activating factor (PAF, 1‐O‐alkyl‐2‐acetyl‐sn‐glycero‐3‐phosphocholine) is a biologically active lipid mediator. We have previously shown the expression of PAF receptor in neurons and microglia. PAF is produced in the brain from its precursor, and degraded by the enzyme PAF acetylhydrolase.
Suzumi M. Tokuoka +9 more
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