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Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication

Journal of Biological Chemistry(2022)10.1016/j.jbc.2022.102196Source: DataRank Database

Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication is a research paper published in Journal of Biological Chemistry (2022). On theSindex it has a DataRank of 0. It has been cited 2 times.

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Enrichment:Funding (9 grants)OA: goldTopics (29)IDs (PubMed, PMC)Annotations (4)

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Authors (5)

Carolyn K. J. Young ORCID,Steffi Goffart ORCID,Jaakko Pohjoismäki ORCID,Matthew J. Young ORCID,Md. Mostafijur Rahman ORCID

Live enrichment

PubMed:35760101 PMC:PMC9307957

National Institute of Environmental Health Sciences

Grant: 1R15ES033394-01

Defining the cellular and molecular mechanisms of how toxicants disrupt mitochondrial DNA homeostasis

National Institute of Environmental Health Sciences

Grant: 5R00ES022638-04

The Roles of Polymerase Gamma Accessory Subunit Gene Mutations in Human Disease.

NIEHS NIH HHS

Grant: R15 ES033394

NIEHS NIH HHS

Grant: R00 ES022638

National Institutes of Health

Grant: 1R03HS013039-01

Violence &SCI: Understanding the Rehabilitation Context

Feinberg School of Medicine

Northwestern University

School of Medicine, Southern Illinois University

National Institutes of Health

goldLicense: cc-by

publisherhttps://doi.org/10.1016/j.jbc.2022.102196

publisherhttps://api.elsevier.com/content/article/PII:S002192582200638X?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S002192582200638X?httpAccept=text/plain

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9307957

Europe_PMChttps://europepmc.org/articles/PMC9307957

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

HumansElectron Transport Complex IDNA-Directed DNA PolymeraseDNA, MitochondrialDNA ReplicationEnergy MetabolismHeterozygoteMutationDNA Polymerase gamma

Keywords

Mitochondrial ToxicitySjcrh30Autosomal Dominant Progressive External Ophthalmoplegia (Adpeo)2′-3′-Dideoxycytidine (Ddc, Zalcitabine)Mitochondrial Dna (Mtdna) MaintenancePolg C.2864a>g/p.y955cCell Line Model Of Mitochondrial DiseaseDNA ReplicationHeterozygoteElectron Transport Complex IMutationHumansDNA-Directed DNA PolymeraseEnergy MetabolismDNA, MitochondrialResearch ArticleDNA Polymerase gamma

Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication

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Authors (5)

Funding (9 grants)

Open Access

Topics

Annotations (Europe PMC)