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Quoted phrase not found in phrase index: "Mitochondrial complex 4 deficiency, nuclear type 4"
Page 1
Mitochondrial hepatopathies in the newborn period.
Fellman V, Kotarsky H. Fellman V, et al. Semin Fetal Neonatal Med. 2011 Aug;16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Semin Fetal Neonatal Med. 2011. PMID: 21680270 Review.
The most common liver manifestation caused by mutated mitochondrial DNA (deletion) is Pearson syndrome. Recently, mutations in several nuclear DNA genes have been identified that lead to mitochondrial hepatopathy, e.g. mitochondrial depletion syndrome …
The most common liver manifestation caused by mutated mitochondrial DNA (deletion) is Pearson syndrome. Recently, mutations in severa …
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. Once the concentration of any pathogenic mitochondrial genome variant exceeds a t …
Mitochondria contain their own genome which encodes 13 essential mitochondrial proteins and accumulates somatic variants at up …
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 2 diabete …
Gene expression of the NR4A nuclear orphan receptor NOR-1 is reduced in obesity and in human skeletal muscle during disuse. ...We pos …
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. ...In accord, enzymatic activity was undetecta …
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclea …
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. ...Thus, the still-elusive CTr defect(s) is(are) likely to affect mitochondrial function, just like germline SDH-deficiency does …
For the present study, we examined mitochondrial structure in human tumors and GI tissue (GIT) of mice with SDH deficiency. .. …
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Wortmann SB, et al. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156
In children with a hepatocerebral phenotype most patients presented with complex I deficiency and mtDNA-depletion, three of which carried POLG1-mutations. In the cardiomyopathic subgroup most patients had complex V deficiency and an overlapping phenoty …
In children with a hepatocerebral phenotype most patients presented with complex I deficiency and mtDNA-depletion, three of wh …
A novel deficiency of mitochondrial ATPase of nuclear origin.
Houstek J, Klement P, Floryk D, Antonická H, Hermanská J, Kalous M, Hansíková H, Hout'ková H, Chowdhury SK, Rosipal T, Kmoch S, Stratilová L, Zeman J. Houstek J, et al. Hum Mol Genet. 1999 Oct;8(11):1967-74. doi: 10.1093/hmg/8.11.1967. Hum Mol Genet. 1999. PMID: 10484764
We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthase (ATPase). ...Likewise, the pattern of [(35)S]methionine labelling of ATPase was found to be normal in patient cybrids. We conclude that th …
We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthas …
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 …
Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.
Blesa JR, Solano A, Briones P, Prieto-Ruiz JA, Hernández-Yago J, Coria F. Blesa JR, et al. Neuromolecular Med. 2007;9(4):285-91. doi: 10.1007/s12017-007-8000-3. Epub 2007 Aug 3. Neuromolecular Med. 2007. PMID: 17999202
Mitochondrial DNA of the patient was also sequenced at the genes for COX subunits and some mitochondrial tRNAs. ...Phenotypic differences among published cases seem not to be related with the mutation location or type. Our results support the idea that dysfun …
Mitochondrial DNA of the patient was also sequenced at the genes for COX subunits and some mitochondrial tRNAs. ...Phenotypic …
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. ...Stability and activity of complex IV could be …
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is u …