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Article

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.

Molecular genetics and metabolism - 1 Mar 2022

Han Sangwoo T, Kim Andrew C, Garcia Karolyn, Schimmenti Lisa A, Macnamara Ellen, Network Undiagnosed Diseases, Gahl William A, Malicdan May C, Tifft Cynthia J

Abstract excerpt

Protein translation is a highly regulated process involving the interaction of numerous genes on every component of the protein translation machinery. Upregulated protein translation is a hallmark of cancer and is implicated in autism spectrum disorder, but the risks of developing each disease do not appear to be correlated with one another. In this study we identified two siblings from the NIH Undiagnosed...

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Identifiers

PMID: 35144859
DOI: 10.1016/j.ymgme.2022.01.103
PMCID: PMC8958514

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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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