Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)

Human Mutation

Volumn 19, Issue 1, 2002, Pages 4-15

  Cardoso, Carlos ^a   Leventer, Richard J ^a   Dowling, James J ^a   Ward, Heather L ^a   Chung, June ^a   Petras, Kristin S ^a   Roseberry, Jessica A ^a   Weiss, Ann M ^a   Das, Soma ^a   Martin, Christa Lese ^a   Pilz, Daniela T ^b   Dobyns, William B ^a   Ledbetter, David H ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

Cortical malformation; LIS1; Lissencephaly; MDS; Miller Dieker syndrome; Neuronal migration; PAF; PAFAH1B1; Platelet activating factor; SBH; Subcortical band heterotopia

Indexed keywords

GENE PRODUCT; PROTEIN LIS1; PROTEIN PAFAH1B1; UNCLASSIFIED DRUG;

AGYRIA; AMINO TERMINAL SEQUENCE; BRAIN LEVEL; CELL DIVISION; CELL MOTILITY; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 17P; CLINICAL FEATURE; CYTOSKELETON; DISEASE SEVERITY; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; HETEROTOPIA; HUMAN; MILLER DIEKER SYNDROME; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECURRENT DISEASE; REVIEW; SEQUENCE ANALYSIS;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; HUMANS; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; SYNDROME;

ACRONICTA LEPORINA;

EID: 0036135783     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10028     Document Type: Review

References (50)

1. PAF analogues capable of inhibiting PAF acetylhydrolase activity suppress migration of isolated rat cerebellar granule cells
2. Nudf, a fungal homolog of the human LIS1 protein, functions as a dimer in vivo
3. Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor
4. The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging
5. Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters
6. Platelet-activating factor receptor stimulation disrupts neuronal migration in vitro
7. Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization
8. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
9. Interaction between LIS1 and doublecortin, two lissencephaly gene products
10. A revision of the lissencephaly and Miller-Dicker syndrome critical regions in chromosome 17p13.3
11. Pachygyria
12. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
13. Doublecortin is the major gene causing X-linked subcortical laminar heterotopia
14. Miller-Dieker syndrome: Lissencephaly and monosomy 17p
15. Lissencephaly: A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
16. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
17. The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11 protein
18. A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function
19. LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome
20. Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly
21. Folding of proteins with WD-repeats: Comparison of six members of the WD-repeat superfamily to the G protein beta subunit
22. Doublecortin, a brain specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
23. Genetic and neuroradiological heterogeneity of double cortex syndrome
24. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase
25. Cloning and expression of a cDNA encoding the beta-subunit (30-kDa subunit) of bovine brain platelet-activating factor acetylhydrolase
26. PAF and PAF acetylhydrolase in the nervous system
27. Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality
28. Direct association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDE
29. Frequent intragenic polymorphism in the 3′ untranslated region of the lissencephaly gene 1 (LIS-1)
30. The Drosophila lissencephaly I (DLis1) gene is required for nuclear migration
31. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
32. LIS1, the Drosophila homolog of a human lissencephaly disease gene, is required for germline cell division and oocyte differentiation
33. Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport
34. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
35. Nuclear migration, nucleokinesis and lissencephaly
36. NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein
37. Lissencephaly-I is one of the most conserved proteins between mouse and human: A single amino-acid difference in 410 residues
38. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
39. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence
40. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
41. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
42. Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome
43. Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit
44. Analysis of lissencephaly-causing LIS1 mutations
45. A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system
46. Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian LIS1
47. The WD repeat: A common architecture for diverse functions
48. Drosophila lissencephaly-1 functions with Bic-D and dynein in oocyte determination and nuclear positioning
49. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development
50. Binding of pleckstrin homology domains to WD40/beta-transducin repeat containing segments of the protein product of the Lis-1 gene