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Quoted phrase not found in phrase index: "Mitochondrial complex 1 deficiency, nuclear type 2"
Page 1
Loss of NOR-1 represses muscle metabolism through mTORC1-mediated signaling and mitochondrial gene expression in C2C12 myotubes.
Paez HG, Ferrandi PJ, Pitzer CR, Mohamed JS, Alway SE. Paez HG, et al. FASEB J. 2023 Aug;37(8):e23050. doi: 10.1096/fj.202202029R. FASEB J. 2023. PMID: 37389860
Gene expression of the NR4A nuclear orphan receptor NOR-1 is reduced in obesity and in human skeletal muscle during disuse. ...We postulate that strategies that improve NOR-1 may be important to offset the negative impact that inactivity, obesity, and type …
Gene expression of the NR4A nuclear orphan receptor NOR-1 is reduced in obesity and in human skeletal muscle during disuse. .. …
Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.
Hipps D, Dobson PF, Warren C, McDonald D, Fuller A, Filby A, Bulmer D, Laude A, Russell O, Deehan DJ, Turnbull DM, Lawless C. Hipps D, et al. Bone. 2022 May;158:116371. doi: 10.1016/j.bone.2022.116371. Epub 2022 Feb 19. Bone. 2022. PMID: 35192969 Free article.
Mitochondria contain their own genome which encodes 13 essential mitochondrial proteins and accumulates somatic variants at up to 10 times the rate of the nuclear genome. ...By comparing bone tissue sampled at one timepoint from femoral neck of 10 older healt …
Mitochondria contain their own genome which encodes 13 essential mitochondrial proteins and accumulates somatic variants at up …
Beta-cell mitochondria in the regulation of insulin secretion: a new culprit in type II diabetes.
Wollheim CB. Wollheim CB. Diabetologia. 2000 Mar;43(3):265-77. doi: 10.1007/s001250050044. Diabetologia. 2000. PMID: 10768087 Review.
The resulting generation of glutamate participates in Ca(2+)-stimulated exocytosis. Mitochondrial DNA (mtDNA) encodes some of the polypeptides of the respiratory chain enzyme complexes. ...A cellular model of MODY3 expressing dominant-negative hepatocyte n …
The resulting generation of glutamate participates in Ca(2+)-stimulated exocytosis. Mitochondrial DNA (mtDNA) encodes some of …
Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.
Szarek E, Ball ER, Imperiale A, Tsokos M, Faucz FR, Giubellino A, Moussallieh FM, Namer IJ, Abu-Asab MS, Pacak K, Taïeb D, Carney JA, Stratakis CA. Szarek E, et al. Endocr Relat Cancer. 2015 Jun;22(3):345-52. doi: 10.1530/ERC-15-0069. Epub 2015 Mar 25. Endocr Relat Cancer. 2015. PMID: 25808178 Free PMC article.
For the present study, we examined mitochondrial structure in human tumors and GI tissue (GIT) of mice with SDH deficiency. Tissues from 16 CTr tumors (n=12), those with isolated GIST (n=1), and those with CSS caused by SDHC (n=1) and SDHD (n=2) …
For the present study, we examined mitochondrial structure in human tumors and GI tissue (GIT) of mice with SDH deficiency. Ti …
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Abdulhag UN, et al. Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781756 Free PMC article.
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclear-encoded mutations in assembly factors while rarely by mutations in structural subunits. We hereby report a case of isolated COX def …
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclea …
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M. Garone C, et al. Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314. Hum Mol Genet. 2017. PMID: 28973171 Free PMC article.
Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. ...MRM2 has never before been linked to a human disease and encodes an enzyme responsible f …
Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific defici …
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
Pulman J, Ruzzenente B, Bianchi L, Rio M, Boddaert N, Munnich A, Rötig A, Metodiev MD. Pulman J, et al. Hum Mol Genet. 2019 May 1;28(9):1445-1462. doi: 10.1093/hmg/ddy441. Hum Mol Genet. 2019. PMID: 30566640
Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial DNA (mtDNA)-encoded polypeptides essential for the biogenesis of oxidative phosphorylation (OXPHOS) complexes I and III-V. Mutat …
Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial …
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS. Hallmann K, et al. Brain. 2016 Feb;139(Pt 2):338-45. doi: 10.1093/brain/awv357. Epub 2015 Dec 17. Brain. 2016. PMID: 26685157
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. ...The loss of the wild-type COX8A protein severe …
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is u …