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Article

L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.

Human molecular genetics - 15 Mar 2015

Xu Baoshan, Sowa Nenja, Cardenas Maria E, Gerton Jennifer L

Abstract excerpt

Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development as well as mental retardation. The developmental phenotypes of CdLS and other cohesinopathies suggest that mutations in the structure and regulation of the cohesin complex during embryogenesis interfere with gene regulation. In...

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Identifiers

PMID: 25378554
DOI: 10.1093/hmg/ddu565
PMCID: PMC4351377

Genes

RPS6

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.

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