PubMed (GeneRIF) for id: 166785

Year	Number of Results
2002	1
2004	2
2007	2
2008	1
2009	1
2010	2
2011	1
2012	1
2016	1
2017	1
2018	1
2024	0

1

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.

Lin Y, Lin C, Lin W, Zheng Z, Han M, Fu Q. Lin Y, et al. BMC Med Genet. 2018 Jul 11;19(1):114. doi: 10.1186/s12881-018-0635-4. BMC Med Genet. 2018. PMID: 29996803 Free PMC article.

2

Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation.

Takahashi-Iñiguez T, González-Noriega A, Michalak C, Flores ME. Takahashi-Iñiguez T, et al. Biochimie. 2017 Nov;142:191-196. doi: 10.1016/j.biochi.2017.09.012. Epub 2017 Sep 22. Biochimie. 2017. PMID: 28943303

3

Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.

Keyfi F, Abbaszadegan MR, Rolfs A, Orolicki S, Moghaddassian M, Varasteh A. Keyfi F, et al. Cell Mol Biol Lett. 2016 Jul 28;21:4. doi: 10.1186/s11658-016-0005-1. eCollection 2016. Cell Mol Biol Lett. 2016. PMID: 28536607 Free PMC article.

4

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

Dempsey-Nunez L, Illson ML, Kent J, Huang Q, Brebner A, Watkins D, Gilfix BM, Wittwer CT, Rosenblatt DS. Dempsey-Nunez L, et al. Mol Genet Metab. 2012 Nov;107(3):363-7. doi: 10.1016/j.ymgme.2012.09.012. Epub 2012 Sep 15. Mol Genet Metab. 2012. PMID: 23026888

5

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

Takahashi-Íñiguez T, García-Arellano H, Trujillo-Roldán MA, Flores ME. Takahashi-Íñiguez T, et al. Biochem Biophys Res Commun. 2011 Jan 7;404(1):443-7. doi: 10.1016/j.bbrc.2010.11.141. Epub 2010 Dec 5. Biochem Biophys Res Commun. 2011. PMID: 21138732

6

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. Froese DS, et al. J Biol Chem. 2010 Dec 3;285(49):38204-13. doi: 10.1074/jbc.M110.177717. Epub 2010 Sep 28. J Biol Chem. 2010. PMID: 20876572 Free PMC article.

7

Spondylocostal dysostosis associated with methylmalonic aciduria.

Honjo RS, Casella EB, Vieira MA, Bertola DR, Albano LM, Oliveira LA, Nomachi S, Hanai J, Benoist JF, Ellard S, Young E, Kim CA. Honjo RS, et al. Genet Test Mol Biomarkers. 2009 Apr;13(2):181-3. doi: 10.1089/gtmb.2008.0069. Genet Test Mol Biomarkers. 2009. PMID: 19371216

8

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493

9

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER. Hörster F, et al. Pediatr Res. 2007 Aug;62(2):225-30. doi: 10.1203/PDR.0b013e3180a0325f. Pediatr Res. 2007. PMID: 17597648

10

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS. Lerner-Ellis JP, et al. Hum Mutat. 2004 Dec;24(6):509-16. doi: 10.1002/humu.20104. Hum Mutat. 2004. PMID: 15523652

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