Title: メチルマロニルCoAムターゼ (Methylmalonyl-CoA mutase)
Section: 参考

Ledley FD, Rosenblatt DS (1997). “Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.”. Hum. Mutat. 9 (1):  1–6. doi:10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E. PMID 8990001. Ludwig ML, Matthews RG (1997). “Structure-based perspectives on B12-dependent enzymes.”. Annu. Rev. Biochem. 66:  269–313. doi:10.1146/annurev.biochem.66.1.269. PMID 9242908. Lubrano R, Elli M, Rossi M, et al. (2007). “Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature.”. Pediatr. Nephrol. 22 (8):  1209–14. doi:10.1007/s00467-007-0460-z. PMID 17401587. Frenkel EP, Kitchens RL (1978). “Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats.”. Br. J. Haematol. 31 (4):  501–13. doi:10.1111/j.1365-2141.1975.tb00885.x. PMID 24458. Crane AM, Jansen R, Andrews ER, Ledley FD (1992). “Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.”. J. Clin. Invest. 89 (2):  385–91. doi:10.1172/JCI115597. PMC 442864. PMID 1346616. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC442864/. Crane AM, Martin LS, Valle D, Ledley FD (1992). “Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.”. Hum. Genet. 89 (3):  259–64. doi:10.1007/BF00220536. PMID 1351030. Raff ML, Crane AM, Jansen R, et al. (1991). “Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.”. J. Clin. Invest. 87 (1):  203–7. doi:10.1172/JCI114972. PMC 295026. PMID 1670635. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC295026/. Jansen R, Ledley FD (1990). “Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.”. Am. J. Hum. Genet. 47 (5):  808–14. PMC 1683687. PMID 1977311. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683687/. Nham SU, Wilkemeyer MF, Ledley FD (1991). “Structure of the human methylmalonyl-CoA mutase (MUT) locus.”. Genomics 8 (4):  710–6. doi:10.1016/0888-7543(90)90259-W. PMID 1980486. Ledley FD, Lumetta M, Nguyen PN, et al. (1988). “Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.”. Proc. Natl. Acad. Sci. U.S.A. 85 (10):  3518–21. doi:10.1073/pnas.85.10.3518. PMC 280243. PMID 2453061. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC280243/. Jansen R, Kalousek F, Fenton WA, et al. (1989). “Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.”. Genomics 4 (2):  198–205. doi:10.1016/0888-7543(89)90300-5. PMID 2567699. Fenton WA, Hack AM, Kraus JP, Rosenberg LE (1987). “Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.”. Proc. Natl. Acad. Sci. U.S.A. 84 (5):  1421–4. doi:10.1073/pnas.84.5.1421. PMC 304442. PMID 2881300. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC304442/. Zoghbi HY, O'Brien WE, Ledley FD (1989). “Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.”. Genomics 3 (4):  396–8. doi:10.1016/0888-7543(88)90135-8. PMID 2907507. Kolhouse JF, Utley C, Allen RH (1980). “Isolation and characterization of methylmalonyl-CoA mutase from human placenta.”. J. Biol. Chem. 255 (7):  2708–12. PMID 6102092. Fenton WA, Hack AM, Willard HF, et al. (1982). “Purification and properties of methylmalonyl coenzyme A mutase from human liver.”. Arch. Biochem. Biophys. 214 (2):  815–23. doi:10.1016/0003-9861(82)90088-1. PMID 6124211. Qureshi AA, Crane AM, Matiaszuk NV, et al. (1994). “Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.”. J. Clin. Invest. 93 (4):  1812–9. doi:10.1172/JCI117166. PMC 294249. PMID 7909321. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC294249/. Crane AM, Ledley FD (1994). “Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.”. Am. J. Hum. Genet. 55 (1):  42–50. PMC 1918235. PMID 7912889. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918235/. Janata J, Kogekar N, Fenton WA (1998). “Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.”. Hum. Mol. Genet. 6 (9):  1457–64. doi:10.1093/hmg/6.9.1457. PMID 9285782.