222 related articles for article (PubMed ID: 25333616)
21. Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Sauer SW; Opp S; Hoffmann GF; Koeller DM; Okun JG; Kölker S
Brain; 2011 Jan; 134(Pt 1):157-70. PubMed ID: 20923787
[TBL] [Abstract][Full Text] [Related]
22. Disturbance of the glutamatergic system by glutaric acid in striatum and cerebral cortex of glutaryl-CoA dehydrogenase-deficient knockout mice: possible implications for the neuropathology of glutaric acidemia type I.
Busanello EN; Fernandes CG; Martell RV; Lobato VG; Goodman S; Woontner M; de Souza DO; Wajner M
J Neurol Sci; 2014 Nov; 346(1-2):260-7. PubMed ID: 25241940
[TBL] [Abstract][Full Text] [Related]
23. Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
Zayed H; El Khayat H; Tomoum H; Khalifa O; Siddiq E; Mohammad SA; Gamal R; Shi Z; Mosailhy A; Zaki OK
Metab Brain Dis; 2019 Aug; 34(4):1231-1241. PubMed ID: 31062211
[TBL] [Abstract][Full Text] [Related]
24. DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.
Leandro J; Dodatko T; Aten J; Nemeria NS; Zhang X; Jordan F; Hendrickson RC; Sanchez R; Yu C; DeVita RJ; Houten SM
Hum Mol Genet; 2020 May; 29(7):1168-1179. PubMed ID: 32160276
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
Vendramin Pasquetti M; Meier L; Loureiro S; Ganzella M; Junges B; Barbieri Caus L; Umpierrez Amaral A; Koeller DM; Goodman S; Woontner M; Gomes de Souza DO; Wajner M; Calcagnotto ME
Epilepsia; 2017 Oct; 58(10):1771-1781. PubMed ID: 28762469
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.
Popek M; Walter M; Fernando M; Lindner M; Schwab KO; Sass JO
Clin Chim Acta; 2010 Dec; 411(23-24):2087-91. PubMed ID: 20836999
[TBL] [Abstract][Full Text] [Related]
29. Ammonium accumulation and chemokine decrease in culture media of Gcdh
Cudré-Cung HP; Remacle N; do Vale-Pereira S; Gonzalez M; Henry H; Ivanisevic J; Schmiesing J; Mühlhausen C; Braissant O; Ballhausen D
Mol Genet Metab; 2019 Apr; 126(4):416-428. PubMed ID: 30686684
[TBL] [Abstract][Full Text] [Related]
30. An explanation for metabolite excretion in high- and low-excretor patients with glutaric acidemia type 1.
Goodman SI; Woontner M
Mol Genet Metab; 2019 Aug; 127(4):325-326. PubMed ID: 31324527
[No Abstract] [Full Text] [Related]
31. Impairment of astrocytic glutaminolysis in glutaric aciduria type I.
Komatsuzaki S; Ediga RD; Okun JG; Kölker S; Sauer SW
J Inherit Metab Dis; 2018 Jan; 41(1):91-99. PubMed ID: 29098534
[TBL] [Abstract][Full Text] [Related]
32. Caspase-3 mediates apoptosis of striatal cells in GA I rat model.
Tian F; Fu X; Gao J; Zhang C; Ning Q; Luo X
J Huazhong Univ Sci Technolog Med Sci; 2012 Feb; 32(1):107-112. PubMed ID: 22282255
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Membrane translocation of glutaric acid and its derivatives.
Mühlhausen C; Burckhardt BC; Hagos Y; Burckhardt G; Keyser B; Lukacs Z; Ullrich K; Braulke T
J Inherit Metab Dis; 2008 Apr; 31(2):188-93. PubMed ID: 18404412
[TBL] [Abstract][Full Text] [Related]
36. Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I.
Seminotti B; Amaral AU; Ribeiro RT; Rodrigues MDN; Colín-González AL; Leipnitz G; Santamaría A; Wajner M
Mol Neurobiol; 2016 Nov; 53(9):6459-6475. PubMed ID: 26607633
[TBL] [Abstract][Full Text] [Related]
37. Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.
Jafari P; Braissant O; Zavadakova P; Henry H; Bonafé L; Ballhausen D
PLoS One; 2013; 8(1):e53735. PubMed ID: 23326493
[TBL] [Abstract][Full Text] [Related]
38. Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Keyser B; Glatzel M; Stellmer F; Kortmann B; Lukacs Z; Kölker S; Sauer SW; Muschol N; Herdering W; Thiem J; Goodman SI; Koeller DM; Ullrich K; Braulke T; Mühlhausen C
Biochim Biophys Acta; 2008 Jun; 1782(6):385-90. PubMed ID: 18348873
[TBL] [Abstract][Full Text] [Related]
39. Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: a possible mechanism for brain injury in glutaric aciduria type I.
Amaral AU; Seminotti B; Cecatto C; Fernandes CG; Busanello EN; Zanatta Â; Kist LW; Bogo MR; de Souza DO; Woontner M; Goodman S; Koeller DM; Wajner M
Mol Genet Metab; 2012 Nov; 107(3):375-82. PubMed ID: 22999741
[TBL] [Abstract][Full Text] [Related]
40. [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
Wang Q; Yang YL
Zhongguo Dang Dai Er Ke Za Zhi; 2016 May; 18(5):460-5. PubMed ID: 27165598
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]