LIS1: from cortical malformation to essential protein of cellular dynamics.
The LIS1 gene was cloned following the study of children with lissencephaly and cytogenetic abnormalities involving chromosome 17p, however, the role of the LIS1 protein in normal cortical development is not precisely defined. LIS1 is a component of evolutionarily conserved intracellular multiprotein complexes and recent literature shows that these complexes are essential, not only for neuronal migration, but they might also be fundamental components of the machinery for cell proliferation and intracellular transport.
Leventer
R J
RJ
Dept. of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
Cardoso
C
C
Ledbetter
D H
DH
Dobyns
W B
WB
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000818:Animals; D002352:Carrier Proteins / Q000096:biosynthesis* / Q000235:genetics; D002465:Cell Movement / Q000502:physiology*; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000378:metabolism*; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000096:biosynthesis* / Q000235:genetics; D009474:Neurons / Q000166:cytology / Q000378:metabolism
D002352:Carrier Proteins; D008869:Microtubule-Associated Proteins; C421108:NDEL1 protein, human; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human