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Quoted phrase not found in phrase index: "Mitochondrial complex 1 deficiency, nuclear type 2"
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 …
Mitochondrial damage and clearance in retinal pigment epithelial cells.
Gurubaran IS. Gurubaran IS. Acta Ophthalmol. 2024 Mar;102 Suppl 282:3-53. doi: 10.1111/aos.16661. Acta Ophthalmol. 2024. PMID: 38467968
There are several mechanisms thought to underlie the disease, for example, ageing-associated chronic oxidative stress, mitochondrial damage, harmful protein aggregation and inflammation. As a way of gaining a better understanding of the molecular mechanisms behind AMD and …
There are several mechanisms thought to underlie the disease, for example, ageing-associated chronic oxidative stress, mitochondrial …
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 …
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 …
Deficiency of electron transport chain in human skeletal muscle mitochondria in type 2 diabetes mellitus and obesity.
Ritov VB, Menshikova EV, Azuma K, Wood R, Toledo FG, Goodpaster BH, Ruderman NB, Kelley DE. Ritov VB, et al. Am J Physiol Endocrinol Metab. 2010 Jan;298(1):E49-58. doi: 10.1152/ajpendo.00317.2009. Epub 2009 Nov 3. Am J Physiol Endocrinol Metab. 2010. PMID: 19887598 Free PMC article.
Insulin resistance in skeletal muscle in obesity and T2DM is associated with reduced muscle oxidative capacity, reduced expression in nuclear genes responsible for oxidative metabolism, and reduced activity of mitochondrial electron transport chain. ...The obtained …
Insulin resistance in skeletal muscle in obesity and T2DM is associated with reduced muscle oxidative capacity, reduced expression in nuc …
Small-molecule MDM2 inhibitor LQFM030-induced apoptosis in p53-null K562 chronic myeloid leukemia cells.
de Oliveira Ribeiro H, Cortez AP, de Ávila RI, da Silva ACG, de Carvalho FS, Menegatti R, Lião LM, Valadares MC. de Oliveira Ribeiro H, et al. Fundam Clin Pharmacol. 2020 Aug;34(4):444-457. doi: 10.1111/fcp.12540. Epub 2020 Mar 14. Fundam Clin Pharmacol. 2020. PMID: 32011031
Our group designed and synthesized the N-phenyl-piperazine LQFM030 [1-(4-((1-(4-chlorophenyl)-1H-pyrazol-4-yl)methyl) piperazin-1-yl) ethanone], a small molecule derived from molecular simplification of the Nutlin-1, an inhibitor of the human homologue …
Our group designed and synthesized the N-phenyl-piperazine LQFM030 [1-(4-((1-(4-chlorophenyl)-1H-pyrazol-4-yl)methyl) piperazi …
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 …
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. Powell CA, et al. Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16. Am J Hum Genet. 2015. PMID: 26189817 Free PMC article.
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. Defective expression of mtDNA-encoded genes, caused by mutations in either …
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy producti …