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Article

Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome.

The Journal of biological chemistry - 1 Sept 2022

Dreggors-Walker R Elizabeth, Cohen Lauren N, Khoshnevis Sohail, Marchand Virginie, Motorin Yuri, Ghalei Homa

Abstract excerpt

Regulation of protein synthesis is critical for control of gene expression in all cells. Ribosomes are ribonucleoprotein machines responsible for translating cellular proteins. Defects in ribosome production, function, or regulation are detrimental to the cell and cause human diseases, such as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. PEHO syndrome is a devastating...

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Identifiers

PMID: 35843310
DOI: 10.1016/j.jbc.2022.102261
PMCID: PMC9418376

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