| SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome. | SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome.
Alkhater RA, Ahonen S, Minassian BA., Free PMC Article | 10/9/2021 |
| SUCLA2-coupled regulation of GLS succinylation and activity counteracts oxidative stress in tumor cells. | SUCLA2-coupled regulation of GLS succinylation and activity counteracts oxidative stress in tumor cells.
Tong Y, Guo D, Lin SH, Liang J, Yang D, Ma C, Shao F, Li M, Yu Q, Jiang Y, Li L, Fang J, Yu R, Lu Z. | 06/26/2021 |
| SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease. | SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
Gut P, Matilainen S, Meyer JG, Pällijeff P, Richard J, Carroll CJ, Euro L, Jackson CB, Isohanni P, Minassian BA, Alkhater RA, Østergaard E, Civiletto G, Parisi A, Thevenet J, Rardin MJ, He W, Nishida Y, Newman JC, Liu X, Christen S, Moco S, Locasale JW, Schilling B, Suomalainen A, Verdin E., Free PMC Article | 12/19/2020 |
| Pharmacologically targetable vulnerability in prostate cancer carrying RB1-SUCLA2 deletion. | Pharmacologically targetable vulnerability in prostate cancer carrying RB1-SUCLA2 deletion.
Kohno S, Linn P, Nagatani N, Watanabe Y, Kumar S, Soga T, Takahashi C. | 12/5/2020 |
| SUCLA2 mutation is associated with Down syndrome and mitochondrial depletion syndrome. | Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Couser NL, Marchuk DS, Smith LD, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Gucsavas-Calikoglu M, Powell CM. | 02/10/2018 |
| The patient's cells lack the SUCLG1 protein, with significantly reduced levels of SUCLA2 and SUCLG2 protein | 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., Free PMC Article | 12/9/2017 |
| Sucla2 is related to the developmental stages of mouse spermatogenesis. Knockdown of Sucla2 decreases the viability of mouse spermatocytes by inducing apoptosis via decreased mitochondrial function of the cells. | Knockdown of Sucla2 decreases the viability of mouse spermatocytes by inducing apoptosis through injury of the mitochondrial function of cells.
Huang S, Wang J, Wang L. | 04/8/2017 |
| Long survival, to age 20 years or older, was reported in 12% of SUCLA2 and in 10% of SUCLG1 patients. | 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. | 12/17/2016 |
| XDH and SUCLA2 genes associated with thiopurine-induced leukopenia can act in a complex interactive manner in patients with Crohn's disease. | Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.
Park SK, Hong M, Ye BD, Kim KJ, Park SH, Yang DH, Hwang SW, Kwak MS, Lee HS, Song K, Yang SK. | 11/12/2016 |
| The absence of SUCLA2 and SUCLG2 in human glia is in compliance with the presence of alternative pathways occurring in these cells, namely the GABA shunt and ketone body metabolism | Localization of SUCLA2 and SUCLG2 subunits of succinyl CoA ligase within the cerebral cortex suggests the absence of matrix substrate-level phosphorylation in glial cells of the human brain.
Dobolyi A, Bagó AG, Gál A, Molnár MJ, Palkovits M, Adam-Vizi V, Chinopoulos C. | 10/31/2015 |
| SUCLA2 mutations should be analyzed in patients with slowly progressive encephalomyopathy, even in the absence of methylmalonic aciduria or mitochondrial DNA depletion. | 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., Free PMC Article | 10/24/2015 |
| This study demonstrated that SUCLA2 is expressed exclusively in neurons in the human cerebral cortex. | Exclusive neuronal expression of SUCLA2 in the human brain.
Dobolyi A, Ostergaard E, Bagó AG, Dóczi T, Palkovits M, Gál A, Molnár MJ, Adam-Vizi V, Chinopoulos C. | 08/29/2015 |
| Identification of a novel mutation in SUCLA2 in two cousins affected with encephalomyopathy, is reported. | The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
Jaberi E, Chitsazian F, Ali Shahidi G, Rohani M, Sina F, Safari I, Malakouti Nejad M, Houshmand M, Klotzle B, Elahi E. | 05/3/2014 |
| A novel homozygous mutation in SUCLA2 gene has been associated with severe mitochondrial encephalomyopathies in two Italian siblings. | A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D., Free PMC Article | 03/30/2013 |
| 3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 and c.531+4A>T in SUCLG1). | Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A. | 03/30/2013 |
| X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the beta-subunit of succinyl-CoA synthetase (SUCLA2). | X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
Bishop DF, Tchaikovskii V, Hoffbrand AV, Fraser ME, Margolis S., Free PMC Article | 11/3/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase. | A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
Ostergaard E, Schwartz M, Batbayli M, Christensen E, Hjalmarson O, Kollberg G, Holme E. | 03/22/2010 |
| Deficiency of SUCLA2 is associated with encephalomyopathy and mitochondrial DNA depletion. | Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A., Free PMC Article | 01/21/2010 |