| 1 | MMAA, MUT
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| Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein.
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| Takahashi-Íñiguez T, García-Arellano H, Trujillo-Roldán MA, Flores ME.
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| Biochem Biophys Res Commun 404(1):443-7. doi: 10.1016/j.bbrc.2010.11.141. Epub 2010 Dec 5.
2011
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| 2 | MMAA, MUT
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| Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
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| Froese DS, Kochan G, Muniz JR, Wu X, Gileadi C, Ugochukwu E, Krysztofinska E, Gravel RA, Oppermann U, Yue WW.
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| J Biol Chem 285(49):38204-13. doi: 10.1074/jbc.M110.177717. Epub 2010 Sep 28.
2010
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| 3 | MUT
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| Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
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| Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.
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| Mol Genet Metab 90(3):284-90. Epub 2006 Nov 20. 2007
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| 4 | MUT
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| Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
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| Sakamoto O, Ohura T, Matsubara Y, Takayanagi M, Tsuchiya S.
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| J Hum Genet 52(1):48-55. Epub 2006 Oct 31. 2007
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| 5 | HMAG, MMAA, MMAB, MMACHC, MTR, MTRR, MUT
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| Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism.
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| Moras E, Hosack A, Watkins D, Rosenblatt DS.
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| Mol Genet Metab 90(2):140-7. Epub 2006 Sep 29. 2007
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| 6 | MUT
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| Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
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| Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.
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| Hum Mutat 25(2):167-76. 2005
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| 7 | MUT
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| Mutation analysis of the MCM gene in Korean patients with MMA.
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| Jung JW, Hwang IT, Park JE, Lee EH, Ryu KH, Kim SH, Hwang JS.
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| Mol Genet Metab 84(4):367-70. Epub 2004 Dec 19. 2005
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| 8 | MUT
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| Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
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| Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.
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| Hum Mutat 20(5):406. 2002
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| 9 | MUT
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| N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.
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| Acquaviva C, Benoist JF, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, Elion J.
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| Eur J Hum Genet 9(8):577-82. 2001
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| 10 | MUT
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| Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.
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| Benoist JF, Acquaviva C, Callebaut I, Guffon N, Ogier de Baulny H, Mornon JP, Porquet D, Elion J.
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| Mol Genet Metab 72(2):181-4. 2001
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| 11 | ARPKD, CSNK2B, GSTA1, GSTAP1, MUT, PRPH2
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| Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.
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| Mucher G, Becker J, Knapp M, Buttner R, Moser M, Rudnik-Schoneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K.
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| Genomics 48(1):40-5. 1998
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| 12 | MUT
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| Seven novel mutations in mut methylmalonic aciduria.
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| Adjalla CE, et al.
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| Hum Mutat 11 : 270-274. 1998
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| 13 | MUT
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| Mutations in mut methylmalonic acidemia : clinical and enzymatic correlations.
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| Ledley FD, et al.
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| Hum Mutat 9 : 1-6. 1997
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| 14 | MUT
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| Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
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| Janata J, Kogekar N, Fenton WA.
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| Hum Mol Genet 6(9):1457-64. 1997
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| 15 | MUT
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| Recurrent mutation Asn45-Ser of glycoprotein IX in Bernard-Soulier syndrome.
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| DonnŽr M, et al.
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| Eur J Haematol 57 : 178-179. 1996
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| 16 | MUT
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| Cloning and expression of mutations demonstrating intragenic complementation in mut-methylmalonic aciduria.
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| Qureshi AA, et al.
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| J Clin Invest 93 : 1812-1819. 1994
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| 17 | MUT
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| Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.
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| Ogasawara M, et al.
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| Hum Mol Genet 3 : 867-872. 1994
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| 18 | MUT
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| Molecular analysis of methylmalonic acidemia : identification of novel mutations in the methylmalonyl-CoA mutase gene with decreased level of mutant mRNA. (abstr)
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| Ogasawara M, et al.
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| Am J Hum Genet 55 : A233. 1994
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| 19 | MUT
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| Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia.
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| Crane AM, et al.
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| Am J Hum Genet 55 : 42-50. 1994
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| 20 | MUT
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| Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonyl aciduria.
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| Crane AM, et al.
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| J Clin Invest 89 : 385-391. 1992
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| 21 | MUT
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| Genetic characterization of a MUT locus mutation discrimating heterogeneity in mut¡ and mut- methylmalonic aciduria by interallelic complementation.
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| Raff ML, et al.
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| J Clin Invest 87 : 203-207. 1991
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| 22 | MUT
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| Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
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| Ledley FD, et al.
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| Am J Hum Genet 46 : 539-547. 1990
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| 23 | MUT
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| Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes mut-o methylmalonic acidemia.
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| Ledley FD, et al.
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| Proc Natl Acad Sci U S A 87 : 3147-3150. 1990
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| 24 | MUT
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| Heterozygous mutations at the mut locus in fibroblasts with mut¡ methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
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| Jansen R, et al.
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| Am J Hum Genet 47 : 808-814. 1990
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| 25 | D6S4, MUT
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| Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.
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| Zoghbi HY, et al.
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| Genomics 3 : 396-398. 1988
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| 26 | MUT
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| Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
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| Ledley FD, et al.
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| Am J Hum Genet 42 : 839-846. 1988
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| 27 | MUT
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| Assignment of methylmalonyl CoA mutase locus to human chromosome 6.
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| Ledley FD, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 646. 1987
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| 28 | MUT
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| Methylmalonic aciduria : an inborn error of metabolism leading to metabolic acidosis, long-chain ketonuria and hyperglycinemia.
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| Rosenberg LE, et al.
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| N Engl J Med 278 : 1319-1322. 1968
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