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Article

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.

Genes - 24 Dec 2021

Sheikh Taimoor I, Harripaul Ricardo, Vasli Nasim, Ghadami Majid, Santangelo Susan L, Ayub Muhammad, Sasanfar Roksana, Vincent John B

Abstract excerpt

Nucleolin (NCL/C23; OMIM: 164035) is a major nucleolar protein that plays a critical role in multiple processes, including ribosome assembly and maturation, chromatin decondensation, and pre-rRNA transcription. Due to its diverse functions, nucleolin has frequently been implicated in pathological processes, including cancer and viral infection. We recently identified a de novo frameshifting indel mutation of NCL,...

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Identifiers

PMID: 35052391
DOI: 10.3390/genes13010051
PMCID: PMC8774667

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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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