BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

257 related articles for article (PubMed ID: 33965309)

  • 21. Marked reduction of Na(+), K(+)-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice.
    Amaral AU; Cecatto C; Seminotti B; Zanatta Â; Fernandes CG; Busanello EN; Braga LM; Ribeiro CA; de Souza DO; Woontner M; Koeller DM; Goodman S; Wajner M
    Mol Genet Metab; 2012 Sep; 107(1-2):81-6. PubMed ID: 22578804
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I.
    Posset R; Opp S; Struys EA; Völkl A; Mohr H; Hoffmann GF; Kölker S; Sauer SW; Okun JG
    J Inherit Metab Dis; 2015 Mar; 38(2):265-72. PubMed ID: 25214427
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
    Schillaci LA; Greene CL; Strovel E; Rispoli-Joines J; Spector E; Woontner M; Scharer G; Enns GM; Gallagher R; Zinn AB; McCandless SE; Hoppel CL; Goodman SI; Bedoyan JK
    Mol Genet Metab; 2016 Sep; 119(1-2):50-6. PubMed ID: 27397597
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.
    Gürbüz BB; Yılmaz DY; Coşkun T; Tokatlı A; Dursun A; Sivri HS
    Eur J Med Genet; 2020 Nov; 63(11):104032. PubMed ID: 32777384
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.
    Peng HH; Shaw SW; Huang KG
    Taiwan J Obstet Gynecol; 2018 Feb; 57(1):137-140. PubMed ID: 29458885
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
    Shadmehri AA; Fattahi N; Pourreza MR; Koohiyan M; Zarifi S; Darbouy M; Sharifi R; Tavakkoly Bazzaz J; Tabatabaiefar MA
    J Cell Biochem; 2019 Mar; 120(3):3367-3372. PubMed ID: 30203563
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
    Strauss KA; Williams KB; Carson VJ; Poskitt L; Bowser LE; Young M; Robinson DL; Hendrickson C; Beiler K; Taylor CM; Haas-Givler B; Hailey J; Chopko S; Puffenberger EG; Brigatti KW; Miller F; Morton DH
    Mol Genet Metab; 2020 Nov; 131(3):325-340. PubMed ID: 33069577
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
    Lamp J; Keyser B; Koeller DM; Ullrich K; Braulke T; Mühlhausen C
    J Biol Chem; 2011 May; 286(20):17777-84. PubMed ID: 21454630
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
    Gelener P; Severino M; Diker S; Teralı K; Tuncel G; Tuzlalı H; Manara E; Paolacci S; Bertelli M; Ergoren MC
    Neurogenetics; 2020 Jul; 21(3):179-186. PubMed ID: 32306145
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
    Schmiesing J; Lohmöller B; Schweizer M; Tidow H; Gersting SW; Muntau AC; Braulke T; Mühlhausen C
    Hum Mol Genet; 2017 Feb; 26(3):538-551. PubMed ID: 28062662
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.
    Mateu-Bosch A; Segur-Bailach E; García-Villoria J; Gea-Sorlí S; Ruiz I; Del Rey J; Camps J; Guitart-Mampel M; Garrabou G; Tort F; Ribes A; Fillat C
    Gene Ther; 2024 Jan; 31(1-2):12-18. PubMed ID: 37985879
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model.
    Fu X; Gao H; Tian F; Gao J; Lou L; Liang Y; Ning Q; Luo X
    PLoS One; 2014; 9(10):e110181. PubMed ID: 25333616
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
    Radha Rama Devi A; Ramesh VA; Nagarajaram HA; Satish SP; Jayanthi U; Lingappa L
    Brain Dev; 2016 Jan; 38(1):54-60. PubMed ID: 26071121
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I.
    Herskovitz M; Goldsher D; Sela BA; Mandel H
    Neurology; 2013 Aug; 81(9):849-50. PubMed ID: 23884036
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
    Kurkina MV; Mihaylova SV; Baydakova GV; Saifullina EV; Korostelev SA; Pyankov DV; Kanivets IV; Yunin MA; Pechatnikova NL; Zakharova EY
    Metab Brain Dis; 2020 Aug; 35(6):1009-1016. PubMed ID: 32240488
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.
    Ribeiro JV; Lucas TG; Bross P; Gomes CM; Henriques BJ
    Biochim Biophys Acta Proteins Proteom; 2020 Jan; 1868(1):140269. PubMed ID: 31491587
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: a role for oxidative stress in GA I neuropathology.
    Seminotti B; Ribeiro RT; Amaral AU; da Rosa MS; Pereira CC; Leipnitz G; Koeller DM; Goodman S; Woontner M; Wajner M
    J Neurol Sci; 2014 Sep; 344(1-2):105-13. PubMed ID: 24996493
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I.
    Rodrigues MDN; Seminotti B; Zanatta Â; de Mello Gonçalves A; Bellaver B; Amaral AU; Quincozes-Santos A; Goodman SI; Woontner M; Souza DO; Wajner M
    Mol Neurobiol; 2017 Aug; 54(6):4795-4805. PubMed ID: 27510504
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.
    Jafari P; Braissant O; Bonafé L; Ballhausen D
    Mol Genet Metab; 2011 Dec; 104(4):425-37. PubMed ID: 21944461
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.
    Ribeiro JV; Gomes CM; Henriques BJ
    Int J Mol Sci; 2020 Sep; 21(19):. PubMed ID: 32992790
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.