Associated Papers
Structural Consequence of Non-Synonymous Single-Nucleotide Variants in the N-Terminal Domain of LIS1.
Choi HJ et al.
International Journal of Molecular Sciences, 2022
35328531 (PubMed )
Supplement: ijms-23-03109-s001.zip › Supplimentary_File_2.pdf
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Functional analyses of lissencephaly-related proteins in Dictyostelium.
Meyer I et al.
Seminars in Cell & Developmental Biology, 2011
Missense mutations resulting in type 1 lissencephaly.
Reiner O et al.
Cellular and Molecular Life Sciences : Cmls, 2005
Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.
Tanaka T et al.
The Journal of Cell Biology, 2004
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Cardoso C et al.
Human Mutation, 2002
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Leventer RJ et al.
Neurology, 2001
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Cardoso C et al.
Human Molecular Genetics, 2000
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