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LIS1 functions in normal development and disease
Current Opinion in Neurobiology, 2013LIS1, the first gene to be identified as involved in a neuronal migration disease, is a dosage-sensitive gene whose proper levels are required for multiple aspects of cortical development. Deletions in LIS1 result in a severe brain malformation, known as lissencephaly, whereas duplications delay brain development.
Orly Reiner, Tamar Sapir
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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 P, 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 P, 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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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
T, Sapir +4 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.
T, Sapir +9 more
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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.
Aimee Guillotte +2 more
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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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