Výsledky vyhledávání - "Jane B. L. Addis"

LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model

Autor: Jessie M. Cameron, Jane B. L. Addis, Brian H. Robinson, Fenghao Xu

Publikováno v: Biochemical Journal. 441:275-283

LRPPRC (leucine-rich pentatricopeptide repeat-containing) has been shown to be essential for the maturation of COX (cytochrome c oxidase), possibly by stabilizing RNA transcripts of COXI, COXII and COXIII genes encoded in mtDNA (mitochondrial DNA). W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4261f3b36dbc0ab031c8b3abb0a932e3
https://doi.org/10.1042/bj20110985

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Identification of drug candidates which increase cytochrome c oxidase activity in deficient patient fibroblasts

Autor: Brian H. Robinson, Vinci Hung, Nicola L. Jamieson, Ikennah Browne, Jane B. L. Addis, Niroshan Sriskandarajah, Anita Weadge, Mary C. Maj, Bhavank Shah, Michael Tropak, Jessie M. Cameron

Publikováno v: Mitochondrion. 11:264-272

Cytochrome c oxidase (COX) activity reflects the expressed level of respiratory chain complexes, mtDNA levels, titer and mass of mitochondria. Activity is also indicative of the overall fitness of mt-transcription factors and the import, transcriptio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc7e3df61bcc70edaa3b3ff46c73fc89
https://doi.org/10.1016/j.mito.2010.10.002

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Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol–cytochrome c reductase activity in mouse heart mitochondria

Autor: Jisoo Lee, Jessie M. Cameron, Cameron Ackerley, Nevena MacKay, Mary C. Maj, Jane B. L. Addis, Fenghao Xu, Brian H. Robinson, Valeriy Levandovskiy

Publikováno v: Biochemical Journal. 416:15-26

Mice homozygous for a defect in the PTCD2 (pentatricopeptide repeat domain protein 2) gene were generated in order to study the role of this protein in mitochondrial RNA metabolism. These mice displayed specific but variable reduction of ubiquinol–

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4592bd86b6798737c558f75cbd16d63b
https://doi.org/10.1042/bj20080847

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Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA

Autor: Jane B. L. Addis, Roderick R. McInnes, Brian H. Robinson, Joe T.R. Clarke, Peter Ashby, Susan Blaser, Avril E. Castagna

Publikováno v: American Journal of Medical Genetics Part A. :808-816

A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc7a1a4b0fac5a060469edc00605e42
https://doi.org/10.1002/ajmg.a.31637

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Pyruvate Dehydrogenase Phosphatase Deficiency: Identification of the First Mutation in Two Brothers and Restoration of Activity by Protein Complementation

Autor: Jessie M. Cameron, Matthias R. Baumgartner, E. Regula Baumgartner, Neviana MacKay, Valeriy Levandovskiy, Brian H. Robinson, Jane B. L. Addis, Mary C. Maj

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 90:4101-4107

Context: Pyruvate dehydrogenase phosphatase (PDP) deficiency has been previously reported as an enzymopathy, but the genetic basis for such a defect has never been established. Objective: The aim of this study was to identify the cause of the defect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1beb473e6e294659088dbd398f28b55
https://doi.org/10.1210/jc.2005-0123

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Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cells

Autor: Mary C. Maj, Brian H. Robinson, Nevena MacKay, Anthony E. Lang, Ilona Tkachyova, Jane B. L. Addis, Valeriy Levandovskiy, Jisoo Lee, Pratik Patel, Jessie M. Cameron

Publikováno v: Biochemical and biophysical research communications. 399(3)

Mitochondrial dysfunction is involved in the underlying pathology of Parkinson’s Disease (PD). PINK1 deficiency, which gives rise to familial early-onset PD, is associated with this dysfunction as well as increased oxidative stress. We have establi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ab392d93ef98b21585997adcc6f521
https://pubmed.ncbi.nlm.nih.gov/20637729

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