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Journal Abstract Search

292 related items for PubMed ID: 27913098

  • 1. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
    Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT.
    Mol Genet Metab; 2017 Mar; 120(3):213-222. PubMed ID: 27913098
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  • 5. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
    Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M.
    Brain; 2007 Mar; 130(Pt 3):853-61. PubMed ID: 17287286
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  • 6. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
    Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.
    J Inherit Metab Dis; 2016 Mar; 39(2):243-52. PubMed ID: 26475597
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  • 7. 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
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  • 8. Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
    Matilainen S, Isohanni P, Euro L, Lönnqvist T, Pihko H, Kivelä T, Knuutila S, Suomalainen A.
    Eur J Hum Genet; 2015 Mar; 23(3):325-30. PubMed ID: 24986829
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  • 10. Disorders caused by deficiency of succinate-CoA ligase.
    Ostergaard E.
    J Inherit Metab Dis; 2008 Apr; 31(2):226-9. PubMed ID: 18392745
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  • 11. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE.
    Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
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  • 12. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
    Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA.
    Mol Genet Metab; 2017 Apr; 120(4):342-349. PubMed ID: 28202214
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  • 15. Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
    Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG.
    Mol Genet Metab; 2011 Feb; 102(2):149-52. PubMed ID: 21093335
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  • 16. Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
    Maalej M, Tej A, Bouguila J, Tilouche S, Majdoub S, Khabou B, Tabbebi M, Felhi R, Ammar M, Mkaouar-Rebai E, Keskes L, Boughamoura L, Fakhfakh F.
    Biochem Biophys Res Commun; 2018 Jan 08; 495(2):1730-1737. PubMed ID: 29217198
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  • 17. Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
    Donti TR, Masand R, Scott DA, Craigen WJ, Graham BH.
    Mol Genet Metab; 2016 Sep 08; 119(1-2):68-74. PubMed ID: 27484306
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  • 19. A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
    Garone C, Gurgel-Giannetti J, Sanna-Cherchi S, Krishna S, Naini A, Quinzii CM, Hirano M.
    J Child Neurol; 2017 Feb 08; 32(2):246-250. PubMed ID: 27651038
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  • 20. Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism.
    Lancaster MS, Kim B, Doud EH, Tate MD, Sharify AD, Gao H, Chen D, Simpson E, Gillespie P, Chu X, Miller MJ, Wang Y, Liu Y, Mosley AL, Kim J, Graham BH.
    Cell Rep; 2023 Oct 31; 42(10):113241. PubMed ID: 37819759
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