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Article

Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development.

The Journal of comparative neurology - 1 Apr 2010

Nakamura Yukiko, Lee Suni, Haddox Candace L, Weaver Eli J, Lemmon Vance P

Abstract excerpt

Mutations in the human L1CAM gene cause X-linked hydrocephalus and MASA (Mental retardation, Aphasia, Shuffling gait, Adducted thumbs) syndrome. In vitro studies have shown that the L1 cytoplasmic domain (L1CD) is involved in L1 trafficking, neurite branching, signaling, and interactions with the cytoskeleton. L1cam knockout (L1(KO)) mice have hydrocephalus, a small cerebellum, hyperfasciculation of...

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Identifiers

PMID: 20127821
DOI: 10.1002/cne.22267
PMCID: PMC3158433

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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.

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