| ECHDC2 inhibits the proliferation of gastric cancer cells by binding with NEDD4 to degrade MCCC2 and reduce aerobic glycolysis. | ECHDC2 inhibits the proliferation of gastric cancer cells by binding with NEDD4 to degrade MCCC2 and reduce aerobic glycolysis.
He J, Yi J, Ji L, Dai L, Chen Y, Xue W., Free PMC Article | 06/3/2024 |
| MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer. | MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer.
Liu W, Chen S, Xie W, Wang Q, Luo Q, Huang M, Gu M, Lan P, Chen D., Free PMC Article | 11/2/2023 |
| [Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency]. | [Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency].
Li R, Xu Z, Zhao D, Zhang Y, Xie Z, Wang C, Zhang Z, Song J. | 01/30/2021 |
| MCCC2 overexpression predicts poorer prognosis and promotes cell proliferation in colorectal cancer. | MCCC2 overexpression predicts poorer prognosis and promotes cell proliferation in colorectal cancer.
Dai W, Feng H, Lee D. | 10/31/2020 |
| MCCC2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer | Methylcrotonoyl-CoA carboxylase 2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer.
Liu Y, Yuan Z, Song C. | 03/21/2020 |
| Mutations on MCCC1 and MCCC2 genes are the major genetic causes for the increased C5-OH in neonates | [Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].
Wu D, Lu B, Yang J, Yang R, Huang X, Tong F, Zheng J, Zhao Z., Free PMC Article | 01/11/2020 |
| This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance. | 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L. | 01/28/2017 |
| Novel mutation in MCCC2 gene was identified in Chinese population. | Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, Yang R, Yin X, Yu P, Huang X, Qi M. | 07/30/2016 |
| Mutation in 3-methylcrotonyl CoA carboxylase 2 gene is associated with 3-methylcrotonyl-CoA carboxylase deficiency. | A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Morscher RJ, Grünert SC, Bürer C, Burda P, Suormala T, Fowler B, Baumgartner MR. | 07/21/2012 |
| study reports eight different mutant alleles of MCCC1 or MCCC2 including six novel mutations in Korean patients with 3-methylcrotonyl-CoA carboxylase (MCC) deficiency | Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Cho SY, Park HD, Lee YW, Ki CS, Lee SY, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Lee DH, Jin DK. | 06/2/2012 |
| identified two novel MCCA and four novel MCCB mutant alleles from five MCC-deficient patients | Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. | 10/29/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGenetic 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. Association of genetic variants with hemorrhagic stroke in Japanese individuals.
Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. | 12/2/2009 |
| Molecular analyses revealed novel mutations in one of the causative genes, MCCA or MCCB, in all five of the MCC deficiency patients | Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. | 01/21/2010 |
| The Kd value of soraphen A for the BC domains of human ACC1 and ACC2 is 1 nM. This high binding affinity is mainly due to the extensive interactions between soraphen A and the human biotin carboxylase domain | Crystal structure of the biotin carboxylase domain of human acetyl-CoA carboxylase 2.
Cho YS, Lee JI, Shin D, Kim HT, Cheon YH, Seo CI, Kim YE, Hyun YL, Lee YS, Sugiyama K, Park SY, Ro S, Cho JM, Lee TG, Heo YS. | 01/21/2010 |
| factors other than the genotype at the MCCA and MCCB loci have a major influence on the phenotype of MCC deficiency | 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR. | 01/21/2010 |
| The amino-termini containing 20 amino acids (MCCbeta) were both necessary and sufficient for targeting. Structural requirements for mitochondrial import were defined by site-directed mutagenesis. | Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.
Stadler SC, Polanetz R, Meier S, Mayerhofer PU, Herrmann JM, Anslinger K, Roscher AA, Röschinger W, Holzinger A. | 01/21/2010 |