Reference on EC 5.4.99.2 - methylmalonyl-CoA mutase and Organism(s) Homo sapiens
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Kolhouse, J.F.; Utley, C.; Allen, R.H.
Isolation and characterization of methylmalonyl-CoA mutase from human placenta
J. Biol. Chem.
255
2708-2712
1980
Homo sapiens
Fenton, W.A.; Hack, A.M.; Willard, H.F.; Gertler, A.; Rosenberg, L.E.
Purification and properties of methylmalonyl coenzyme A mutase from human liver
Arch. Biochem. Biophys.
214
815-823
1982
Homo sapiens
Ledley, F.D.; Lumetta, M.; Nguyen, P.N.; Kolhouse, J.F.; Allen, R.H.
Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines
Proc. Natl. Acad. Sci. USA
85
3518-3521
1988
Homo sapiens
Kolhouse, J.F.; Stabler, S.P.; Allen, R.H.
L-Methylmalonyl-CoA mutase from human placenta
Methods Enzymol.
166
407-414
1988
Homo sapiens
Taoka, S.; Padmakumar, R.; Lai, M.; Liu, H.; Banerjee, R.
Inhibition of the human methylmalonyl-CoA mutase by various CoA-esters
J. Biol. Chem.
269
31630-31634
1994
Homo sapiens
Janata, J.; Kogekar, N.; Fenton, W.A.
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut-phenotype: evidence for naturally occuring interallelic complementation
Hum. Mol. Genet.
6
1457-1464
1997
Homo sapiens
Deodato, F.; Boenzi, S.; Santorelli, F.M.; Dionisi-Vici, C.
Methylmalonic and propionic aciduria
Am. J. Med. Genet. C Semin. Med. Genet.
142C
104-112
2006
Homo sapiens
Carlucci, F.; Rosi, F.; Tommassini, V.; Tabucchi, A.
CE assay of methylmalonyl-coenzyme-A mutase activity
Electrophoresis
28
1921-1925
2007
Homo sapiens, Rattus norvegicus
Takahashi-Iniguez, T.; Garcia-Arellano, H.; Trujillo-Roldan, M.A.; Flores, M.E.
Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein
Biochem. Biophys. Res. Commun.
404
443-447
2011
Homo sapiens
Froese, D.S.; Kochan, G.; Muniz, J.R.; Wu, X.; Gileadi, C.; Ugochukwu, E.; Krysztofinska, E.; Gravel, R.A.; Oppermann, U.; Yue, W.W.
Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation
J. Biol. Chem.
285
38204-38213
2010
Homo sapiens (P22033), Homo sapiens
Buck, N.E.; Wood, L.R.; Hamilton, N.J.; Bennett, M.J.; Peters, H.L.
Treatment of a methylmalonyl-CoA mutase stopcodon mutation
Biochem. Biophys. Res. Commun.
427
753-757
2012
Homo sapiens (P22033), Homo sapiens
Makins, C.; Pickering, A.V.; Mariani, C.; Wolthers, K.R.
Mutagenesis of a conserved glutamate reveals the contribution of electrostatic energy to adenosylcobalamin co-C bond homolysis in ornithine 4,5-aminomutase and methylmalonyl-CoA mutase
Biochemistry
52
878-888
2013
Homo sapiens (P22033), Homo sapiens
Chandler, R.J.; Venditti, C.P.
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)
Mol. Genet. Metab.
107
617-619
2012
Homo sapiens (P22033), Homo sapiens
Gotoh, K.; Nakajima, Y.; Tajima, G.; Hotta, Y.; Kataoka, T.; Kawade, Y.; Sugiyama, N.; Ito, T.; Kimura, K.; Maeda, Y.
Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry
Anal. Bioanal. Chem.
407
5281-5286
2015
Homo sapiens (P22033), Homo sapiens
