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

Journal of Biological Chemistry(2022)10.1016/j.jbc.2022.102261Source: DataRank Database

Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome is a research paper published in Journal of Biological Chemistry (2022). On theSindex it has a DataRank of 0. It has been cited 11 times.

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Open Access11 citations

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Enrichment:Funding (4 grants)OA: goldTopics (23)IDs (PubMed, PMC)Annotations (2)

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Accessible (1/2)

Open Access

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Reusable (0/3)

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Authors (6)

Lauren N. Cohen ORCID,Sohail Khoshnevis ORCID,Virginie Marchand ORCID,Yuri Motorin ORCID,Homa Ghalei ORCID

Live enrichment

PubMed:35843310 PMC:PMC9418376

NIGMS NIH HHS

Grant: R35 GM138123

ANR

Emory University School of Medicine

NIH

goldLicense: cc-by

publisherhttps://doi.org/10.1016/j.jbc.2022.102261

publisherhttps://api.elsevier.com/content/article/PII:S0021925822007037?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0021925822007037?httpAccept=text/plain

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9418376

Europe_PMChttps://europepmc.org/articles/PMC9418376

MeSH Terms

HumansSaccharomyces cerevisiaeBrain EdemaSpasms, InfantileOptic AtrophyNeurodegenerative DiseasesRibonucleoproteins, Small NucleolarSaccharomyces cerevisiae ProteinsNuclear ProteinsTranscription FactorsRNA, Small NucleolarMutationInfant, Newborn

Keywords

RibosomopathyRibosome AssemblySmall Nucleolar Rna (Snorna)Assembly FactorRrna ModificationPeho SyndromeZnhit3Hit1Small Nucleolar Ribonucleoprotein (Snornp)Zinc Finger Hit Protein

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

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Authors (6)

Funding (4 grants)

Open Access

Topics

Annotations (Europe PMC)