| MMAB promotes negative feedback control of cholesterol homeostasis. | MMAB promotes negative feedback control of cholesterol homeostasis.
Goedeke L, Canfrán-Duque A, Rotllan N, Chaube B, Thompson BM, Lee RG, Cline GW, McDonald JG, Shulman GI, Lasunción MA, Suárez Y, Fernández-Hernando C., Free PMC Article | 12/11/2021 |
| A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B12 status (cB12) and connects B12 status with utilization of mitochondrial substrates and energy metabolism. | A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B(12) status (cB(12)) and connects B(12) status with utilization of mitochondrial substrates and energy metabolism.
Dalmia A, Dib MJ, Maude H, Harrington DJ, Sobczyńska-Malefora A, Andrew T, Ahmadi KR. | 11/21/2020 |
| analysis of how molecular chaperones interact with ATR in methylmalonic aciduria cblB type | New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.
Brasil S, Briso-Montiano A, Gámez A, Underhaug J, Flydal MI, Desviat L, Merinero B, Ugarte M, Martinez A, Pérez B. | 05/26/2018 |
| MMAB might be a target and potential biomarker of hepatotoxicity in EFV-induced liver toxicity | Increased MMAB level in mitochondria as a novel biomarker of hepatotoxicity induced by Efavirenz.
Tan Z, Jia X, Ma F, Feng Y, Lu H, Jin JO, Wu D, Yin L, Liu L, Zhang L., Free PMC Article | 12/30/2017 |
| These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. | Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
Sun J, Qian Y, Jiang Y, Chen J, Dai J, Jin G, Wang J, Hu Z, Liu S, Shen C, Shen H., Free PMC Article | 04/8/2017 |
| MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort. | High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Illson ML, Dempsey-Nunez L, Kent J, Huang Q, Brebner A, Raff ML, Watkins D, Gilfix BM, Wittwer CT, Rosenblatt DS. | 03/22/2014 |
| Pathogenicity of the human truncation mutant results from its inability to sequester AdoCbl for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation. | Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase.
Lofgren M, Banerjee R., Free PMC Article | 09/3/2011 |
| c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR. | Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B., Free PMC Article | 01/29/2011 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
Fontaine-Bisson B, Renström F, Rolandsson O, MAGIC, Payne F, Hallmans G, Barroso I, Franks PW., Free PMC Article | 09/15/2010 |
| These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. | Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.
Fogarty MP, Xiao R, Prokunina-Olsson L, Scott LJ, Mohlke KL., Free PMC Article | 07/26/2010 |
| Characterization of ligand-binding by MMAB provides insight into the mechanism of cobalamin adenosylation and the effect of patient mutations in the inherited disorder | Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase.
Zhang J, Wu X, Padovani D, Schubert HL, Gravel RA. | 01/25/2010 |
| homozygotes for the major allele (G) at MMAB_3U3527G-->C had higher LDL-cholesterol concentrations than did carriers of the minor allele (P = 0.034). | Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study.
Junyent M, Parnell LD, Lai CQ, Lee YC, Smith CE, Arnett DK, Tsai MY, Kabagambe EK, Straka RJ, Province M, An P, Borecki I, Ordovás JM, Junyent M, Parnell LD, Lai CQ, Lee YC, Smith CE, Arnett DK, Tsai MY, Kabagambe EK, Straka RJ, Province M, An P, Borecki I, Ordovás JM., Free PMC Articles: PMC2728650, PMC2728650 | 01/21/2010 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study.
Junyent M, Parnell LD, Lai CQ, Lee YC, Smith CE, Arnett DK, Tsai MY, Kabagambe EK, Straka RJ, Province M, An P, Borecki I, Ordovás JM, Junyent M, Parnell LD, Lai CQ, Lee YC, Smith CE, Arnett DK, Tsai MY, Kabagambe EK, Straka RJ, Province M, An P, Borecki I, Ordovás JM., Free PMC Articles: PMC2728650, PMC2728650 | 08/12/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesGenetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
Park MH, Kim N, Lee JY, Park HY. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. No interaction between alcohol consumption and HDL-related genes on HDL cholesterol levels.
Marques-Vidal P, Bochud M, Paccaud F, Waterworth D, Bergmann S, Preisig M, Waeber G, Vollenweider P. Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.
Weissglas-Volkov D, Aguilar-Salinas CA, Sinsheimer JS, Riba L, Huertas-Vazquez A, Ordoñez-Sánchez ML, Rodriguez-Guillen R, Cantor RM, Tusie-Luna T, Pajukanta P. Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.
Nakayama K, Bayasgalan T, Yamanaka K, Kumada M, Gotoh T, Utsumi N, Yanagisawa Y, Okayama M, Kajii E, Ishibashi S, Iwamoto S, Jichi Community Genetics Team (JCOG). | 06/24/2009 |
| Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. | 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. | 01/21/2010 |
| Results functionally defined the hATR active site and tentatively implicated three amino acid residues in facilitating the reduction of cob(II)alamin to cob(I)alamin which is a prerequisite to adenosylation. | Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase.
Fan C, Bobik TA. | 01/21/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL, Abecasis GR., Free PMC Article | 03/13/2008 |
| Mutations in methylmalonic aciduria type B protein is associated with methylmalonic acidemia | Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J. | 01/21/2010 |
| Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB. | 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. | 01/21/2010 |
| report the identification of ATR cDNA as well as the corresponding gene; ATR expression is altered in cell lines derived from cblB methylmalonyl aciduria patients; propose that inborn errors in the ATR gene identified here result in methylmalonyl aciduria | Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant.
Leal NA, Park SD, Kima PE, Bobik TA. | 01/21/2010 |
| Results describe two common polymorphic variants of ATP:cob(I)alamin adenosyltransferase that are found in normal individuals, and their interactions with methionine synthase reductase. | Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase.
Leal NA, Olteanu H, Banerjee R, Bobik TA. | 01/21/2010 |