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Article

Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.

Mechanisms of development - 1 Apr 2000

Sweeney K J, Clark G D, Prokscha A, Dobyns W B, Eichele G

Abstract excerpt

Human brain malformations, such as Miller-Dieker syndrome (MDS) or isolated lissencephaly sequence (ILS) may result from abnormal neuronal migration during brain development. MDS and ILS patients have a hemizygous deletion or mutation in the LIS1 gene (PAFAH1B1), therefore, the LIS1 encoded protein (Lis1) may play a role in neuronal migration. Lis1 is a subunit of a brain platelet-activating factor...

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PMID: 10727864
DOI: 10.1016/s0925-4773(00)00242-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.PMID 10727864Read ↗

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