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Quoted phrase not found in phrase index: "Mitochondrial complex IV deficiency, nuclear type 1"
Page 1
Impaired autophagy and APP processing in Alzheimer's disease: The potential role of Beclin 1 interactome.
Salminen A, Kaarniranta K, Kauppinen A, Ojala J, Haapasalo A, Soininen H, Hiltunen M. Salminen A, et al. Prog Neurobiol. 2013 Jul-Aug;106-107:33-54. doi: 10.1016/j.pneurobio.2013.06.002. Epub 2013 Jul 1. Prog Neurobiol. 2013. PMID: 23827971 Review.
Recent studies have indicated that the expression Beclin 1 is reduced in AD brain. Moreover, the deficiency of Beclin 1 in cultured neurons and transgenic mice provokes the deposition of amyloid-beta peptides whereas its overexpression reduces the accumulatio …
Recent studies have indicated that the expression Beclin 1 is reduced in AD brain. Moreover, the deficiency of Beclin 1 …
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.
Once the concentration of any pathogenic mitochondrial genome variant exceeds a threshold, respiratory chain deficiency and cellular dysfunction occur. ...By comparing bone tissue sampled at one timepoint from femoral neck of 10 older healthy volunteers aged 40-85 w …
Once the concentration of any pathogenic mitochondrial genome variant exceeds a threshold, respiratory chain deficiency and ce …
Nuclear gene defects in mitochondrial disorders.
Zeviani M, Corona P, Nijtmans L, Tiranti V. Zeviani M, et al. Ital J Neurol Sci. 1999 Dec;20(6):401-8. doi: 10.1007/s100720050059. Ital J Neurol Sci. 1999. PMID: 10937860 Review.
An increasing number of nuclear genes have been associated with abnormalities of oxidative phosphorylation and mitochondrial disorders. ...Loss-of-function mutations in SURF-1, a gene belonging to the third category, have been associated with Leigh syndrome w …
An increasing number of nuclear genes have been associated with abnormalities of oxidative phosphorylation and mitochondrial d …
Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.
Silva JP, Köhler M, Graff C, Oldfors A, Magnuson MA, Berggren PO, Larsson NG. Silva JP, et al. Nat Genet. 2000 Nov;26(3):336-40. doi: 10.1038/81649. Nat Genet. 2000. PMID: 11062475
Mitochondrial dysfunction is an important contributor to human pathology and it is estimated that mutations of mitochondrial DNA (mtDNA) cause approximately 0.5-1% of all types of diabetes mellitus. We have generated a mouse model for mitochondrial dia …
Mitochondrial dysfunction is an important contributor to human pathology and it is estimated that mutations of mitochondrial D …
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Feichtinger RG, et al. Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942965 Free PMC article.
It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure. ...Complementation with wild-type, but no …
It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial mat …