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Items: 1 to 20 of 32

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.

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.

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.

PMID:
26370686
5.

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.

Han L, Wu S, Ye J, Qiu W, Zhang H, Gao X, Wang Y, Gong Z, Jin J, Gu X.

Am J Med Genet A. 2015 Oct;167A(10):2300-5. doi: 10.1002/ajmg.a.37147.

PMID:
25982642
6.

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.

7.

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.

8.

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
9.

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.

10.
11.

[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
12.

Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase.

Lofgren M, Banerjee R.

Biochemistry. 2011 Jun 28;50(25):5790-8. doi: 10.1021/bi2006306.

13.

Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein.

Takahashi-Íñiguez T, García-Arellano H, Trujillo-Roldán MA, Flores ME.

Biochem Biophys Res Commun. 2011 Jan 7;404(1):443-7. doi: 10.1016/j.bbrc.2010.11.141.

PMID:
21138732
14.

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.

PLoS One. 2010 Sep 21;5(9):e12862. doi: 10.1371/journal.pone.0012862.

15.

Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.

Froese DS, Kochan G, Muniz JR, Wu X, Gileadi C, Ugochukwu E, Krysztofinska E, Gravel RA, Oppermann U, Yue WW.

J Biol Chem. 2010 Dec 3;285(49):38204-13. doi: 10.1074/jbc.M110.177717.

16.

Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer.

Collin SM, Metcalfe C, Refsum H, Lewis SJ, Smith GD, Cox A, Davis M, Marsden G, Johnston C, Lane JA, Donovan JL, Neal DE, Hamdy FC, Smith AD, Martin RM.

Cancer Epidemiol Biomarkers Prev. 2010 Nov;19(11):2833-8. doi: 10.1158/1055-9965.EPI-10-0582.

17.

Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A.

Mutat Res. 2010 Dec 10;694(1-2):13-9. doi: 10.1016/j.mrfmmm.2010.08.006.

PMID:
20800603
18.

Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.

Paré G, Chasman DI, Parker AN, Zee RR, Mälarstig A, Seedorf U, Collins R, Watkins H, Hamsten A, Miletich JP, Ridker PM.

Circ Cardiovasc Genet. 2009 Apr;2(2):142-50. doi: 10.1161/CIRCGENETICS.108.829804.

19.

[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
20.

Mitochondrial dysfunction in mut methylmalonic acidemia.

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP.

FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848.

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