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Items: 1 to 20 of 71

1.

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

Mah W, Deme JC, Watkins D, Fung S, Janer A, Shoubridge EA, Rosenblatt DS, Coulton JW.

Mol Genet Metab. 2013 Feb;108(2):112-8. doi: 10.1016/j.ymgme.2012.11.284. Epub 2012 Dec 7.

PMID:
23270877
2.

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR.

Hum Mol Genet. 2012 Mar 15;21(6):1410-8. doi: 10.1093/hmg/ddr579. Epub 2011 Dec 8.

PMID:
22156578
3.

Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.

Deme JC, Miousse IR, Plesa M, Kim JC, Hancock MA, Mah W, Rosenblatt DS, Coulton JW.

Mol Genet Metab. 2012 Nov;107(3):352-62. doi: 10.1016/j.ymgme.2012.07.001. Epub 2012 Jul 11.

PMID:
22832074
4.

Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B.

N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200.

5.

Characterization of functional domains of the cblD (MMADHC) gene product.

Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR.

J Inherit Metab Dis. 2014 Sep;37(5):841-9. doi: 10.1007/s10545-014-9709-4. Epub 2014 Apr 11.

PMID:
24722857
6.

Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.

Plesa M, Kim J, Paquette SG, Gagnon H, Ng-Thow-Hing C, Gibbs BF, Hancock MA, Rosenblatt DS, Coulton JW.

Mol Genet Metab. 2011 Feb;102(2):139-48. doi: 10.1016/j.ymgme.2010.10.011. Epub 2010 Oct 21.

PMID:
21071249
7.

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.

Froese DS, Zhang J, Healy S, Gravel RA.

Mol Genet Metab. 2009 Dec;98(4):338-43. doi: 10.1016/j.ymgme.2009.07.014. Epub 2009 Aug 3.

PMID:
19700356
8.

Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.

Yamada K, Gherasim C, Banerjee R, Koutmos M.

J Biol Chem. 2015 Dec 4;290(49):29155-66. doi: 10.1074/jbc.M115.682435. Epub 2015 Sep 13.

9.

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS.

J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5.

PMID:
19058814
10.

Expression of Mmachc and Mmadhc during mouse organogenesis.

Pupavac M, Garcia MA, Rosenblatt DS, Jerome-Majewska LA.

Mol Genet Metab. 2011 Aug;103(4):401-5. doi: 10.1016/j.ymgme.2011.04.004. Epub 2011 Apr 17.

PMID:
21536470
11.

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

Froese DS, Kopec J, Fitzpatrick F, Schuller M, McCorvie TJ, Chalk R, Plessl T, Fettelschoss V, Fowler B, Baumgartner MR, Yue WW.

J Biol Chem. 2015 Dec 4;290(49):29167-77. doi: 10.1074/jbc.M115.683268. Epub 2015 Oct 19.

12.

The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

Hannibal L, DiBello PM, Yu M, Miller A, Wang S, Willard B, Rosenblatt DS, Jacobsen DW.

Mol Genet Metab. 2011 Jul;103(3):226-39. doi: 10.1016/j.ymgme.2011.03.008. Epub 2011 Mar 24.

13.

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M, Pérez B; MMACHC Working Group.

Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107.

PMID:
19760748
14.

The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.

Gherasim C, Hannibal L, Rajagopalan D, Jacobsen DW, Banerjee R.

Biochimie. 2013 May;95(5):1023-32. doi: 10.1016/j.biochi.2013.02.003. Epub 2013 Feb 14.

15.

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

Fofou-Caillierez MB, Mrabet NT, Chéry C, Dreumont N, Flayac J, Pupavac M, Paoli J, Alberto JM, Coelho D, Camadro JM, Feillet F, Watkins D, Fowler B, Rosenblatt DS, Guéant JL.

Hum Mol Genet. 2013 Nov 15;22(22):4591-601. doi: 10.1093/hmg/ddt308. Epub 2013 Jul 3.

PMID:
23825108
16.

Molecular picture of cobalamin C/D defects before and after newborn screening era.

Nogueira C, Marcão A, Rocha H, Sousa C, Fonseca H, Valongo C, Vilarinho L.

J Med Screen. 2017 Mar;24(1):6-11. doi: 10.1177/0969141316641149. Epub 2016 Jul 7.

PMID:
27252276
17.

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.

Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17.

18.

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS.

Nat Genet. 2006 Jan;38(1):93-100. Epub 2005 Nov 27. Erratum in: Nat Genet. 2006 Aug;38(8):957.

PMID:
16311595
19.

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, Qi Y, Hsiao KJ, Liu TT.

J Hum Genet. 2010 Sep;55(9):621-6. doi: 10.1038/jhg.2010.81. Epub 2010 Jul 15.

PMID:
20631720
20.

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

Froese DS, Healy S, McDonald M, Kochan G, Oppermann U, Niesen FH, Gravel RA.

Mol Genet Metab. 2010 May;100(1):29-36. doi: 10.1016/j.ymgme.2010.02.005. Epub 2010 Feb 15.

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