PubMed (GeneRIF) for id: 17850

Year	Number of Results
2003	1
2008	1
2009	2
2012	1
2016	1
2018	1
2021	1
2023	1
2024	0

1

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.

Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi F, Bürer C, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Rätsch G, Dermitzakis ET, Wollscheid B, Baumgartner MR, Froese DS. Forny P, et al. Nat Metab. 2023 Jan;5(1):80-95. doi: 10.1038/s42255-022-00720-8. Epub 2023 Jan 26. Nat Metab. 2023. PMID: 36717752 Free PMC article.

2

Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.

Chandler RJ, Venturoni LE, Liao J, Hubbard BT, Schneller JL, Hoffmann V, Gordo S, Zang S, Ko CW, Chau N, Chiang K, Kay MA, Barzel A, Venditti CP. Chandler RJ, et al. Hepatology. 2021 Jun;73(6):2223-2237. doi: 10.1002/hep.31570. Epub 2021 May 21. Hepatology. 2021. PMID: 32976669 Free PMC article.

3

New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.

Remacle N, Forny P, Cudré-Cung HP, Gonzalez-Melo M, do Vale-Pereira S, Henry H, Teav T, Gallart-Ayala H, Braissant O, Baumgartner M, Ballhausen D. Remacle N, et al. Mol Genet Metab. 2018 Aug;124(4):266-277. doi: 10.1016/j.ymgme.2018.06.008. Epub 2018 Jun 18. Mol Genet Metab. 2018. PMID: 29934063

4

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR. Forny P, et al. J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12. J Biol Chem. 2016. PMID: 27519416 Free PMC article.

5

The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.

Moreno-Garcia MA, Rosenblatt DS, Jerome-Majewska LA. Moreno-Garcia MA, et al. Mol Genet Metab. 2012 Nov;107(3):368-74. doi: 10.1016/j.ymgme.2012.09.009. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23022071

6

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.

Calvo SE, Pagliarini DJ, Mootha VK. Calvo SE, et al. Proc Natl Acad Sci U S A. 2009 May 5;106(18):7507-12. doi: 10.1073/pnas.0810916106. Epub 2009 Apr 16. Proc Natl Acad Sci U S A. 2009. PMID: 19372376 Free PMC article.

7

Mitochondrial dysfunction in mut methylmalonic acidemia.

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. Chandler RJ, et al. FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848. Epub 2008 Dec 16. FASEB J. 2009. PMID: 19088183 Free PMC article.

8

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.

Peters H, Nefedov M, Sarsero J, Pitt J, Fowler KJ, Gazeas S, Kahler SG, Ioannou PA. Peters H, et al. J Biol Chem. 2003 Dec 26;278(52):52909-13. doi: 10.1074/jbc.M310533200. Epub 2003 Oct 10. J Biol Chem. 2003. PMID: 14555645 Free article.

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