Results 121 to 130 of about 2,714 (147)

LIS1 cracks open dynein

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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LIS1 functions in normal development and disease

Current Opinion in Neurobiology, 2013
LIS1, 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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Expression of chLIS1, a chicken homolog of LIS1

Development Genes and Evolution, 2000
We 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.
O, Shmueli, O, Reiner
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LIS1: cellular function of a disease-causing gene

Trends in Cell Biology, 2001
Brain 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., Tai, Chin-Yin, Faulkner, Nicole E.   +2 more
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Analysis of lissencephaly‐causing LIS1 mutations

European Journal of Biochemistry, 1999
Mutations 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, M, Eisenstein, H A, Burgess, D, Horesh, A, Cahana, J, Aoki, M, Hattori, H, Arai, K, Inoue, O, Reiner   +9 more
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Interaction of reelin signaling and Lis1 in brain development

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.
Assadi AH, Zhang GC, Beffert U, McNeil RS, Renfro AL, Niu S, Quattrocchi C, Antalffy BA, Sheldon M, Armstrong DD, Wynshaw-Boris A, Herz J, D'Arcangelo G, Clark GD   +13 more
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A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene

American Journal of Medical Genetics Part A, 2011
Recently, three children with a microduplication in 17p13 including the PAFAH1B1 gene that encodes LIS1 were reported. LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et al., 2009].
Kristiina, Avela, Katja, Aktan-Collan, Nina, Horelli-Kuitunen, Sakari, Knuutila, Mirja, Somer   +4 more
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Involvement of platelet‐activating factor and LIS1 in neuronal migration

European Journal of Neuroscience, 2003
AbstractPlatelet‐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, Satoshi, Ishii, Noriko, Kawamura, Mamoru, Satoh, Atsuyoshi, Shimada, Shinji, Sasaki, Shinji, Hirotsune, Anthony, Wynshaw-Boris, Takao, Shimizu   +8 more
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Lis1 Immunofluorescence Reveals Rings and Lattices

Microscopy and Microanalysis, 2004
Extended abstract of a paper presented at Microscopy and Microanalysis 2004 in Savannah, Georgia, USA, August 1–5, 2004.
Aimee Guillotte, Trinity Crapse, D S Smith   +2 more
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Lis1 Lis1 Lis1

Science, 2000
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