Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder

Hodgkin, 1956, Structure of vitamin B12, Nature, 178, 64, 10.1038/178064a0 Smith, 1948, Purification of anti-pernicious anaemia factors from liver, Nature, 161, 638, 10.1038/161638a0 Rickes, 1948, Crystalline vitamin B12, Science, 107, 396, 10.1126/science.107.2781.396 Qureshi, 1994, Inherited disorders of cobalamin metabolism, Crit. Rev. Oncol. Hematol., 17, 133, 10.1016/1040-8428(94)90022-1 Rosenblatt, 2001, Inherited disorders of folate and cobalamin transport and metabolism, 3897 Lerner-Ellis, 2009, Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations, Hum. Mutat., 10.1002/humu.21001 Rosenblatt, 1997, Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC), J. Inherit. Metab. Dis., 20, 528, 10.1023/A:1005353530303 Rossi, 2001, Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings, AJNR Am. J. Neuroradiol., 22, 554 Tsai, 2007, Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance, Am. J. Med. Genet. A, 143A, 2430, 10.1002/ajmg.a.31932 Ben-Omran, 2007, Late-onset cobalamin-C disorder: a challenging diagnosis, Am. J. Med. Genet. A, 143A, 979, 10.1002/ajmg.a.31671 Lerner-Ellis, 2006, Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type, Nat. Genet., 38, 93, 10.1038/ng1683 Kim, 2008, Decyanation of vitamin B12 by a trafficking chaperone, Proc. Natl. Acad. Sci. USA, 105, 14551, 10.1073/pnas.0805989105 Hannibal, 2009, Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product, Mol. Genet. Metab., 10.1016/j.ymgme.2009.04.005 Froese, 2009, Mechanism of vitamin B(12)-responsiveness in cblC methylmalonic aciduria with homocystinuria, Mol. Genet. Metab., 10.1016/j.ymgme.2009.07.014 Mellman, 1979, Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells, J. Biol. Chem., 254, 11847, 10.1016/S0021-9258(19)86394-9 Andersson, 1998, Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC), J. Pediatr., 132, 121, 10.1016/S0022-3476(98)70496-2 Picaud, 2009, Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing, Proteins, 76, 507, 10.1002/prot.22411 Niesen, 2007, The use of differential scanning fluorimetry to detect ligand interactions that promote protein stability, Nat. Protoc., 2, 2212, 10.1038/nprot.2007.321 Senisterra, 2008, Application of high-throughput isothermal denaturation to assess protein stability and screen for ligands, J. Biomol. Screen., 13, 337, 10.1177/1087057108317825 Epps, 2001, The ligand affinity of proteins measured by isothermal denaturation kinetics, Anal. Biochem., 292, 40, 10.1006/abio.2001.5047 Pantoliano, 2001, High-density miniaturized thermal shift assays as a general strategy for drug discovery, J. Biomol. Screen., 6, 429, 10.1177/108705710100600609 Hopper, 2008, In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase, J. Biol. Chem., 283, 30493, 10.1074/jbc.M803525200 Lo, 2004, Evaluation of fluorescence-based thermal shift assays for hit identification in drug discovery, Anal. Biochem., 332, 153, 10.1016/j.ab.2004.04.031 Ladd, 1961, Structure of cobamide coenzymes: influence of pH on absorption spectra and ionophoretic mobilities, J. Biol. Chem., 236, 2114, 10.1016/S0021-9258(18)64138-9 Brown, 1994, Thermodynamics of the base-on/base-off equilibrium of alkyl-13-epi- and alkyl-8-epicobalamins: understanding the thermodynamics of axial ligand substitution in alkylcobalt corrinoids, Inorg. Chem., 33, 4122, 10.1021/ic00096a042 Brown, 1984, Acid-base properties of alpha-ribazole and the thermodynamics of dimethylbenzimidazole association in alkylcobalamins, Inorg. Chem., 23, 1463, 10.1021/ic00178a032 Poklar, 1997, PH and temperature-induced molten globule-like denatured states of equinatoxin II: a study by UV-melting, DSC, far- and near-UV CD spectroscopy, and ANS fluorescence, Biochemistry, 36, 14345, 10.1021/bi971719v Vedadi, 2006, Chemical screening methods to identify ligands that promote protein stability, protein crystallization, and structure determination, Proc. Natl. Acad. Sci. USA, 103, 15835, 10.1073/pnas.0605224103 Hsu, 1966, Vitamin B12 concentrations in human tissues, Nature, 210, 1264, 10.1038/2101264a0 Bodamer, 2001, Adult-onset combined methylmalonic aciduria and homocystinuria (cblC), Neurology, 56, 1113, 10.1212/WNL.56.8.1113 Ouyang, 2003, Accurate redetermination of the X-ray structure and electronic bonding in adenosylcobalamin, Inorg. Chem., 43, 1235, 10.1021/ic0348446 Kratky, 1995, Accurate structural data demystify B12: high-resolution solid-state structure of aquocobalamin perchlorate and structure analysis of the aquocobalamin ion in solution, J. Am. Chem. Soc., 117, 4654, 10.1021/ja00121a022 Brown, 2005, Chemistry and enzymology of vitamin B12, Chem. Rev., 105, 2075, 10.1021/cr030720z Chu, 1993, The methylcobalamin metabolism of cultured human fibroblasts, Metabolism, 42, 577, 10.1016/0026-0495(93)90080-8 Chalmers, 1991, Enzymological studies on patients with methylmalonic aciduria: basis for a clinical trial of deoxyadenosylcobalamin in a hydroxocobalamin-unresponsive patient, Pediatr. Res., 30, 560, 10.1203/00006450-199112000-00014 Kim, 2009, A human B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins, J. Biol. Chem., 10.1074/jbc.M109.057877 Suormala, 2004, The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis, J. Biol. Chem., 279, 4274, 10.1074/jbc.M407733200 Ribes, 1990, Methylmalonic aciduria with homocystinuria: biochemical studies, treatment and clinical course of a Cbl-C patient, Eur. J. Pediatr., 149, 412, 10.1007/BF02009662 Fowler, 1997, Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease), Inher. Metab. Dis., 20, 731, 10.1023/A:1005372730310 Batshaw, 1984, Treatment of the cbl B form of methylmalonic academia with adeonsylcobalamin, J. Inher. Metab. Dis., 7, 65, 10.1007/BF01805805 Bhatt, 1986, Treatment of hydroxocobalamin-resistant methylmalonic acidaemia with adenosylcobalamin, Lancet, 2, 465, 10.1016/S0140-6736(86)92176-8 Morkbak, 2006, Effect of vitamin B12 treatment on haptocorrin, Clin. Chem., 52, 1104, 10.1373/clinchem.2005.061549 Banerjee, 2006, B12 trafficking in mammals: A for coenzyme escort service, ACS Chem. Biol., 1, 149, 10.1021/cb6001174 Rutsch, 2009, Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism, Nat. Genet., 41, 234, 10.1038/ng.294 Coelho, 2008, Gene identification for the cblD defect of vitamin B12 metabolism, N. Engl. J. Med., 358, 1454, 10.1056/NEJMoa072200 Baggett, 2004, Thermostability of firefly luciferases affects efficiency of detection by in vivo bioluminescence, Mol. Imaging, 3, 324, 10.1162/1535350042973553