Results 171 to 180 of about 8,015 (203)
Some of the next articles are maybe not open access.
Related searches:
Related searches:
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
openaire +2 more sources
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
openaire +2 more sources
Lis1 Has Two Opposing Modes of Regulating Cytoplasmic Dynein [PDF]
Cell, 2017 SummaryRegulation is central to the functional versatility of cytoplasmic dynein, a motor involved in intracellular transport, cell division, and neurodevelopment. Previous work established that Lis1, a conserved and ubiquitous regulator of dynein, binds to its motor domain and induces a tight microtubule-binding state in dynein.
Michael A Cianfrocco +2 more
exaly +5 more sources
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.
openaire +2 more sources
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.
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +1 more source
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
openaire +3 more sources
2010
Die Haploinsuffizienz des Lis1 führt beim Menschen zu der Lissenzephalie Typ 1. Mausmutanten mit homozygotem Lis1 sind vorgeburtlich letal, und männliche Mäuse mit einer Genfalle im Lis1 Lokus sind infertil und zeigen eine deutlich verringerte Spermienzahl. Diese Mutationen verdeutlichen die tragende Bedeutung von Lis1 in unterschiedlichen Zellen. Mit
openaire +2 more sources
Die Haploinsuffizienz des Lis1 führt beim Menschen zu der Lissenzephalie Typ 1. Mausmutanten mit homozygotem Lis1 sind vorgeburtlich letal, und männliche Mäuse mit einer Genfalle im Lis1 Lokus sind infertil und zeigen eine deutlich verringerte Spermienzahl. Diese Mutationen verdeutlichen die tragende Bedeutung von Lis1 in unterschiedlichen Zellen. Mit
openaire +2 more sources