Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.

doi:10.1038/1221

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Article

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.

Nature genetics - 1 Aug 1998

Hirotsune S, Fleck M W, Gambello M J, Bix G J, Chen A, Clark G D, Ledbetter D H, McBain C J, Wynshaw-Boris A

Abstract excerpt

Heterozygous mutation or deletion of the beta subunit of platelet-activating factor acetylhydrolase (PAFAH1B1, also known as LIS1) in humans is associated with type I lissencephaly, a severe developmental brain disorder thought to result from abnormal neuronal migration. To further understand the...

Topics

1-Alkyl-2-acetylglycerophosphocholine Esterase
Abnormalities, Multiple
Animals
Cell Movement
Cells, Cultured
Cerebellum
Cerebral Cortex
Embryonic and Fetal Development
Genotype
Hippocampus
Mice
Mice, Knockout
Microtubule-Associated Proteins
Neurons
Olfactory Bulb
Proteins

Source

Open in PubMed

Identifiers

PMID: 9697693
DOI: 10.1038/1221

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9697693-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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