Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 function of PAFAH1B1, we produced three different mutant alleles in mouse Pafah1b1. Homozygous null mice die early in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Cell Movement

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cells, Cultured

Share to Genotype

Share to Mice, Knockout

Share to Neurons

Share to Proteins

Source

Identifiers

PMID: 9697693
DOI: 10.1038/1221

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.PMID 9697693Read ↗

Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice.Semantic proximity Read ↗

Developmental alterations of the septohippocampal cholinergic projection in a lissencephalic mouse model.Semantic proximity Read ↗

Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migrationSemantic proximity Read ↗

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.Semantic proximity Read ↗

Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.Semantic proximity Read ↗

Abnormal cortical development; towards elucidation of the LIS1 gene product function (review).Semantic proximity Read ↗

Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.Semantic proximity Read ↗

Molecular genetics of neuronal migration disorders.Semantic proximity Read ↗

Previously uncharacterized roles of platelet-activating factor acetylhydrolase 1b complex in mouse spermatogenesis.Semantic proximity Read ↗

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.Semantic proximity Read ↗

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Semantic proximity Read ↗

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasiasSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.