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Items: 1 to 20 of 75

1.

[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].

Xie B, Luo J, Fan X, Chen R, Wang J, Zhang S, Li W, Chen S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):135-9. doi: 10.3760/cma.j.issn.1003-9406.2016.02.002. Chinese.

PMID:
27060300
2.

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

Han LS, Huang Z, Han F, Ye J, Qiu WJ, Zhang HW, Wang Y, Gong ZW, Gu XF.

World J Pediatr. 2015 Nov;11(4):358-65. doi: 10.1007/s12519-015-0043-1. Epub 2015 Oct 11.

PMID:
26454439
3.

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.

Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.

Gene. 2016 Jan 15;576(1 Pt 2):208-13. doi: 10.1016/j.gene.2015.10.002. Epub 2015 Oct 9.

PMID:
26449400
4.

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

Sawangareetrakul P, Ketudat Cairns JR, Vatanavicharn N, Liammongkolkul S, Wasant P, Svasti J, Champattanachai V.

Biochem Genet. 2015 Dec;53(11-12):310-8. doi: 10.1007/s10528-015-9694-9. Epub 2015 Sep 14.

PMID:
26370686
5.

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR.

Hum Mutat. 2014 Dec;35(12):1449-58. doi: 10.1002/humu.22633.

6.

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.

Gu W, Koh W, Blumenfeld YJ, El-Sayed YY, Hudgins L, Hintz SR, Quake SR.

Genet Med. 2014 Jul;16(7):564-7. doi: 10.1038/gim.2013.194. Epub 2014 Jan 9.

7.

Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).

Underhill HR, Hahn SH, Hale SL, Merritt JL 2nd.

Pediatr Int. 2013 Dec;55(6):e156-8. doi: 10.1111/ped.12195.

PMID:
24330302
8.

A switch III motif relays signaling between a B12 enzyme and its G-protein chaperone.

Lofgren M, Padovani D, Koutmos M, Banerjee R.

Nat Chem Biol. 2013 Sep;9(9):535-9. doi: 10.1038/nchembio.1298. Epub 2013 Jul 21.

9.

Mutagenesis of a conserved glutamate reveals the contribution of electrostatic energy to adenosylcobalamin co-C bond homolysis in ornithine 4,5-aminomutase and methylmalonyl-CoA mutase.

Makins C, Pickering AV, Mariani C, Wolthers KR.

Biochemistry. 2013 Feb 5;52(5):878-88. doi: 10.1021/bi3012719. Epub 2013 Jan 24.

PMID:
23311430
10.

[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].

Méndez ST, Vela-Amieva M, Velázquez-Arellano A, Ibarra I, Flores ME.

Rev Invest Clin. 2012 May-Jun;64(3):255-61. Spanish.

PMID:
23045948
11.

[Analysis of the MUT gene mutations in patients with methylmalonic acidemia].

Wang F, Han L, Ye J, Qiu W, Zhang Y, Gao X, Wang Y, Yang Y, Gu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):485-9. doi: 10.3760/cma.j.issn.1003-9406.2009.05.001. Chinese.

PMID:
19806564
12.

Brain damage by mild metabolic derangements in methylmalonic acidemia.

Lee NC, Chien YH, Peng SF, Huang AC, Liu TT, Wu AS, Chen LC, Hsu LW, Tseng SC, Hwu WL.

Pediatr Neurol. 2008 Nov;39(5):325-9. doi: 10.1016/j.pediatrneurol.2008.07.018.

PMID:
18940555
13.

Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria.

Hubbard PA, Padovani D, Labunska T, Mahlstedt SA, Banerjee R, Drennan CL.

J Biol Chem. 2007 Oct 26;282(43):31308-16. Epub 2007 Aug 28.

14.

Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.

Oyama C, Takahashi T, Matsumori M, Shoji Y, Tajima G, Sakura N, Hasegawa Y, Yamaguchi S, Kakinuma H, Takada G.

Pediatr Int. 2007 Apr;49(2):232-4. No abstract available.

PMID:
17445044
15.

Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature.

Lubrano R, Elli M, Rossi M, Travasso E, Raggi C, Barsotti P, Carducci C, Berloco P.

Pediatr Nephrol. 2007 Aug;22(8):1209-14. Epub 2007 Mar 31. Review.

16.

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.

Mol Genet Metab. 2007 Mar;90(3):284-90. Epub 2006 Nov 20.

PMID:
17113806
17.

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.

Hum Mutat. 2006 Jan;27(1):31-43.

PMID:
16281286
18.
19.

Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.

Parle-McDermott A, McManus EJ, Mills JL, O'Leary VB, Pangilinan F, Cox C, Weiler A, Molloy AM, Conley M, Watson D, Scott JM, Brody LC, Kirke PN; Birth Defects Research Group.

Mol Genet Metab. 2003 Dec;80(4):463-8.

PMID:
14654360
20.

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.

Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.

Hum Mutat. 2002 Nov;20(5):406.

PMID:
12402345

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