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Page 1
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP. Manoli I, et al. J Inherit Metab Dis. 2023 Jul;46(4):554-572. doi: 10.1002/jimd.12636. Epub 2023 Jun 6. J Inherit Metab Dis. 2023. PMID: 37243446 Review.
Data are presented from a US natural history protocol that evaluated subjects with different types of MMA including mut-type (N = 91), cblB-type (15), and cblA-type MMA (17), as well as from an Italian cohort of mut-type (N = 19) and cblB-type MMA (N = 2) subjects, …
Data are presented from a US natural history protocol that evaluated subjects with different types of MMA including mut-type (N = 91), cb …
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR. Forny P, et al. Hum Genet. 2022 Jul;141(7):1253-1267. doi: 10.1007/s00439-021-02398-6. Epub 2021 Nov 18. Hum Genet. 2022. PMID: 34796408 Free PMC article.
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. ...We identified bi-allelic disease-causing variants in MMAB in 97 individuals with cblB-type methylmalonic acid …
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metab …
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. Goedeke L, et al. Nat Commun. 2021 Nov 8;12(1):6448. doi: 10.1038/s41467-021-26787-7. Nat Commun. 2021. PMID: 34750386 Free PMC article.
We demonstrate that hepatic levels of MMAB are modulated by dietary and cellular cholesterol levels through SREBP2, the master transcriptional regulator of cholesterol homeostasis. Knockdown of MMAB decreases intracellular cholesterol levels and augments SREBP2-medi …
We demonstrate that hepatic levels of MMAB are modulated by dietary and cellular cholesterol levels through SREBP2, the master transc …
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. Sun J, et al. Lipids Health Dis. 2016 Oct 4;15(1):171. doi: 10.1186/s12944-016-0348-7. Lipids Health Dis. 2016. PMID: 27716295 Free PMC article.
BACKGROUND: Several genome-wide association studies have discovered novel loci at chromosome 12q24, which includes mevalonate kinase (MVK), methylmalonic aciduria (cobalamin deficiency) cbIB type (MMAB), and potassium channel tetramerization domain-containing 10 (KC …
BACKGROUND: Several genome-wide association studies have discovered novel loci at chromosome 12q24, which includes mevalonate kinase (MVK), …
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
To determine whether three mouse genes, whose human counterparts are associated with isolated methylmalonic aciduria (Mmaa, Mmab and Mut), show tissue-specific expression during organogenesis, we used in situ hybridization to characterize their pattern of expression …
To determine whether three mouse genes, whose human counterparts are associated with isolated methylmalonic aciduria (Mmaa, Mmab …
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.
Briso-Montiano Á, Vilas A, Richard E, Ruiz-Sala P, Morato E, Desviat LR, Ugarte M, Rodríguez-Pombo P, Pérez B. Briso-Montiano Á, et al. Biochim Biophys Acta Mol Basis Dis. 2022 Sep 1;1868(9):166433. doi: 10.1016/j.bbadis.2022.166433. Epub 2022 May 13. Biochim Biophys Acta Mol Basis Dis. 2022. PMID: 35569737 Free article.
Methylmalonic aciduria cblB type (MMA cblB type, MMAB OMIM #251110), caused by a deficiency in the enzyme ATP:cob(I)alamin adenosyltransferase (ATR, E.C_2. 5.1.17), is a severe metabolic disorder with a poor prognosis despite treatment. ...The MMAB …
Methylmalonic aciduria cblB type (MMA cblB type, MMAB OMIM #251110), caused by a deficiency in the enzyme ATP:co …
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.
Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T. Yang X, et al. Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002. Mol Genet Metab. 2004. PMID: 15308131
Methylmalonic acidemia (MMA) is caused by the deficient activity of l-methylmalonyl-CoA mutase, which is a vitamin B(12) (or cobalamin, Cbl)-dependent enzyme. MMA due to the effect of insufficient Cbl metabolism is classified into three forms (cblA, cblB, and cblH). …
Methylmalonic acidemia (MMA) is caused by the deficient activity of l-methylmalonyl-CoA mutase, which is a vitamin B(12) (or cobalami …
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. Illson ML, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):86-9. doi: 10.1016/j.ymgme.2013.04.020. Epub 2013 May 4. Mol Genet Metab. 2013. PMID: 23707710
This observation brings into question whether somatic cell studies have failed to diagnose other cblB patients with mild cellular phenotypes. A high resolution melting analysis (HRMA) assay was developed for the MMAB gene. ...MMAB mutations, including one nov …
This observation brings into question whether somatic cell studies have failed to diagnose other cblB patients with mild cellular phe …
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE. Waisbren SE. Metab Brain Dis. 2022 Jun;37(5):1317-1335. doi: 10.1007/s11011-022-00954-1. Epub 2022 Mar 29. Metab Brain Dis. 2022. PMID: 35348993 Review.
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsychological deficits. "Isolated" MM …
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic …
Causes of and diagnostic approach to methylmalonic acidurias.
Fowler B, Leonard JV, Baumgartner MR. Fowler B, et al. J Inherit Metab Dis. 2008 Jun;31(3):350-60. doi: 10.1007/s10545-008-0839-4. Epub 2008 Jun 19. J Inherit Metab Dis. 2008. PMID: 18563633 Review.
Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut(0) and mut(-) defects result from deficiency of MMCoA mutase apoenzyme which requires adenosyl-cobal …
Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and ge …
51 results