BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 29576219)

  • 21. Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
    Ittiwut C; Ittiwut R; Kuptanon C; Matsuhashi T; Shimura M; Sugiyama Y; Onuki T; Ohtake A; Murayama K; Vatanavicharn N; Dejputtawat W; Tantisirivit N; Kor-Anantakul P; Kamolvisit W; Suphapeetiporn K; Shotelersuk V
    Sci Rep; 2023 Dec; 13(1):22005. PubMed ID: 38086984
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
    Oláhová M; Thompson K; Hardy SA; Barbosa IA; Besse A; Anagnostou ME; White K; Davey T; Simpson MA; Champion M; Enns G; Schelley S; Lightowlers RN; Chrzanowska-Lightowlers ZM; McFarland R; Deshpande C; Bonnen PE; Taylor RW
    J Inherit Metab Dis; 2017 Jan; 40(1):121-130. PubMed ID: 27696117
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.
    Elander J; McCormick EM; Värendh M; Stenfeldt K; Ganetzky RD; Goldstein A; Zolkipli-Cunningham Z; MacMullen LE; Xiao R; Falk MJ; Ehinger JK
    Mol Genet Metab; 2022 Nov; 137(3):230-238. PubMed ID: 36182714
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.
    Donti TR; Stromberger C; Ge M; Eldin KW; Craigen WJ; Graham BH
    Dis Model Mech; 2014 Feb; 7(2):271-80. PubMed ID: 24271779
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Early fate decision for mitochondrially encoded proteins by a molecular triage.
    Kohler A; Carlström A; Nolte H; Kohler V; Jung SJ; Sridhara S; Tatsuta T; Berndtsson J; Langer T; Ott M
    Mol Cell; 2023 Oct; 83(19):3470-3484.e8. PubMed ID: 37751741
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Transcriptional changes in Plasmodium falciparum upon conditional knock down of mitochondrial ribosomal proteins RSM22 and L23.
    Dass S; Mather MW; Morrisey JM; Ling L; Vaidya AB; Ke H
    PLoS One; 2022; 17(10):e0274993. PubMed ID: 36201550
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
    Garcia-Diaz B; Barros MH; Sanna-Cherchi S; Emmanuele V; Akman HO; Ferreiro-Barros CC; Horvath R; Tadesse S; El Gharaby N; DiMauro S; De Vivo DC; Shokr A; Hirano M; Quinzii CM
    Am J Hum Genet; 2012 Oct; 91(4):729-36. PubMed ID: 23022099
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical Approaches for Mitochondrial Diseases.
    Hong S; Kim S; Kim K; Lee H
    Cells; 2023 Oct; 12(20):. PubMed ID: 37887337
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Regulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression.
    Kramer NJ; Prakash G; Isaac RS; Choquet K; Soto I; Petrova B; Merens HE; Kanarek N; Churchman LS
    Nat Cell Biol; 2023 Nov; 25(11):1575-1589. PubMed ID: 37770567
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.
    Soini HK; Moilanen JS; Vilmi-Kerälä T; Finnilä S; Majamaa K
    BMC Med Genet; 2013 Jul; 14():73. PubMed ID: 23870133
    [TBL] [Abstract][Full Text] [Related]  

  • 31. MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits.
    Castellana S; Biagini T; Petrizzelli F; Parca L; Panzironi N; Caputo V; Vescovi AL; Carella M; Mazza T
    Nucleic Acids Res; 2021 Jan; 49(D1):D1282-D1288. PubMed ID: 33300029
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
    Rius R; Bennett NK; Bhattacharya K; Riley LG; Yüksel Z; Formosa LE; Compton AG; Dale RC; Cowley MJ; Gayevskiy V; Al Tala SM; Almehery AA; Ryan MT; Thorburn DR; Nakamura K; Christodoulou J
    Hum Mutat; 2022 Dec; 43(12):1970-1978. PubMed ID: 36030551
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A very rare presentation of mitochondrial elongation factor Tu deficiency-
    Gokalp S; Inci A; Kilic A; Ozsaydi E; Altun AN; Demir F; Ergin FB; Ozbek MN; Okur I; Ezgu F; Tumer L
    J Pediatr Endocrinol Metab; 2024 Jun; 37(6):571-574. PubMed ID: 38630895
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Phosphorylation of OXPHOS Machinery Subunits: Functional Implications in Cell Biology and Disease.
    Castellanos E; Lanning NJ
    Yale J Biol Med; 2019 Sep; 92(3):523-531. PubMed ID: 31543713
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutation of the PEBP-like domain of the mitoribosomal MrpL35/mL38 protein results in production of nascent chains with impaired capacity to assemble into OXPHOS complexes.
    Box JM; Anderson JM; Stuart RA
    Mol Biol Cell; 2023 Dec; 34(13):ar131. PubMed ID: 37792492
    [TBL] [Abstract][Full Text] [Related]  

  • 36. OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
    Sturm G; Karan KR; Monzel AS; Santhanam B; Taivassalo T; Bris C; Ware SA; Cross M; Towheed A; Higgins-Chen A; McManus MJ; Cardenas A; Lin J; Epel ES; Rahman S; Vissing J; Grassi B; Levine M; Horvath S; Haller RG; Lenaers G; Wallace DC; St-Onge MP; Tavazoie S; Procaccio V; Kaufman BA; Seifert EL; Hirano M; Picard M
    Commun Biol; 2023 Jan; 6(1):22. PubMed ID: 36635485
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Therapeutic prospects for mitochondrial disease.
    Schon EA; DiMauro S; Hirano M; Gilkerson RW
    Trends Mol Med; 2010 Jun; 16(6):268-76. PubMed ID: 20556877
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.
    Liwak-Muir U; Mamady H; Naas T; Wylie Q; McBride S; Lines M; Michaud J; Baird SD; Chakraborty PK; Holcik M
    Orphanet J Rare Dis; 2016 Jun; 11(1):79. PubMed ID: 27317422
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
    van der Ven AT; Cabrera-Orefice A; Wente I; Feichtinger RG; Tsiakas K; Weiss D; Bierhals T; Scholle L; Prokisch H; Kopajtich R; Santer R; Mayr JA; Hempel M; Wittig I
    Mol Genet Metab; 2023 Nov; 140(3):107675. PubMed ID: 37572574
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Epitope-level profiling in children with mitochondrial disease reveals limitations in the antibacterial antibody repertoire.
    Gordon-Lipkin EM; Banerjee P; Thompson E; Kruk S; Franco JLM; McGuire PJ
    Mol Genet Metab; 2023 Jun; 139(2):107581. PubMed ID: 37104980
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.