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Journal Abstract Search

229 related items for PubMed ID: 28062662

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  • 2. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
    Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T.
    Hum Mol Genet; 2008 Dec 15; 17(24):3854-63. PubMed ID: 18775954
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  • 3. 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 15; 1868(1):140269. PubMed ID: 31491587
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  • 8. Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
    Wang Q, Li X, Ding Y, Liu Y, Song J, Yang Y.
    Brain Dev; 2014 Oct 15; 36(9):813-22. PubMed ID: 24332224
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  • 9. Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
    Barroso M, Gertzen M, Puchwein-Schwepcke AF, Preisler H, Sturm A, Reiss DD, Danecka MK, Muntau AC, Gersting SW.
    Int J Mol Sci; 2023 Aug 24; 24(17):. PubMed ID: 37685964
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  • 10. The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
    Gonzalez Melo M, Remacle N, Cudré-Cung HP, Roux C, Poms M, Cudalbu C, Barroso M, Gersting SW, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Rüfenacht V, Häberle J, Braissant O, Ballhausen D.
    Mol Genet Metab; 2021 Jun 24; 133(2):157-181. PubMed ID: 33965309
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  • 11. 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 24; 63(11):104032. PubMed ID: 32777384
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  • 15. 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 24; 57(1):137-140. PubMed ID: 29458885
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  • 16. 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 24; 58(10):1771-1781. PubMed ID: 28762469
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  • 17. 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 24; 54(6):4795-4805. PubMed ID: 27510504
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  • 19. Molecular determination of glutaric aciduria type I in individuals from southwest Iran.
    Baradaran M, Galehdari H, Aminzadeh M, Azizi Malmiri R, Tangestani R, Karimi Z.
    Arch Iran Med; 2014 Sep 24; 17(9):629-32. PubMed ID: 25204480
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  • 20. Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
    Zhang Y, Li H, Ma R, Mei L, Wei X, Liang D, Wu L.
    Clin Chim Acta; 2016 Jan 30; 453():75-9. PubMed ID: 26656312
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