Citations for
1MMACHC, MMADHC
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 108(2):112-8. doi: 10.1016/j.ymgme.2012.11.284. Epub 2012 Dec 7. 2013
2MMAD, MMADHC
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect.
Parini R, Furlan F, Brambilla A, Codazzi D, Vedovati S, Corbetta C, Fedeli T, Merinero B, Pérez B, Ugarte M.
JIMD Rep 11:133-7. doi: 10.1007/8904_2013_232. Epub 2013 May 19. 2013
3MMACHC, MMADHC
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 95(5):1023-32. doi: 10.1016/j.biochi.2013.02.003. Epub 2013 Feb 14. 2013
4MMACHC, MMADHC
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 107(3):352-62. doi: 10.1016/j.ymgme.2012.07.001. Epub 2012 Jul 11. 2012
5MMACHC, MMADHC
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 102(2):139-48. Epub 2010 Oct 21. 2011
6MMACHC, MMADHC
Expression of Mmachc and Mmadhc during mouse organogenesis.
Pupavac M, Garcia MA, Rosenblatt DS, Jerome-Majewska LA.
Mol Genet Metab 103(4):401-5. doi: 10.1016/j.ymgme.2011.04.004. Epub 2011 Apr 17. 2011
7MMAD, MMADHC
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 154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5. 2009
8MMAD, MMADHC
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 358(14):1454-64. 2008
9ABCB7, AMMECR1, APOOL, ARHGEF9, ARL13A, ASMTL, BMP2KL, CDK5R2, CHIC1, COX7B, CXorf1, CXorf31, CXorf40A, CXorf48, CXorf58, CXorf59, FTHL19, GAGE12H, GAGE12J, GAGE13, GAGE2C, GAGE2E, GCA, ITM2A, KLHL4, MAGEB1, MBTPS2, MMADHC, MORC4, NOL10, PAGE4, PIH1D3, RAB33A, RAB40AL, SCML1, SMS, SSX10, STRN, TBR1, ZXDB
The DNA sequence of the human X chromosome.
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR.
Nature 434(7031):325-37. 2005
10ACTR1B, B3GALT1, C2orf19, C2orf27A, C2orf29, C2orf39, C4orf23, C4orf28, CCDC104, CCDC74A, CCDC75, CSRNP3, CTNNA2, ELOVL6, EMX1, FASTKD2, INMT, INPP4A, KIF1A, MMADHC, OTX1, RFTN2, RNF103, TBC1D14, TSSC1, ZNF514
Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK.
Nature 434(7034):724-31. 2005
11MMAD, MMADHC
Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.
Cooper BA, Rosenblatt DS, Watkins D.
Am J Hematol 34(2):115-20.PMID: 2339678 1990