| Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population. | Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population.
Guo Y, Zhu X, Song L, Wang Y, Gao J, Yuan E, Yu H, Fang Y, Shi Q, Zhao D, Zhang L. | 06/26/2024 |
| Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study. | Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y, Shuai R, Liang L, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Gu X, Han L., Free PMC Article | 04/9/2022 |
| Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut. | Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F, Tuncel AT, Gleich F, Plessl T, Froese SD, Garbade SF, Kölker S, Baumgartner MR, Additional Contributors from E-IMD. | 12/25/2021 |
| A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. | A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA., Free PMC Article | 08/21/2021 |
| A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients. | A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Liang L, Shuai R, Yu Y, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Yu Y, Gu X, Han L., Free PMC Article | 07/31/2021 |
| Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase. | Naturally occurring cobalamin (B(12)) analogs can function as cofactors for human methylmalonyl-CoA mutase.
Sokolovskaya OM, Plessl T, Bailey H, Mackinnon S, Baumgartner MR, Yue WW, Froese DS, Taga ME., Free PMC Article | 06/12/2021 |
| Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress. | Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.
Costanzo M, Caterino M, Cevenini A, Jung V, Chhuon C, Lipecka J, Fedele R, Guerrera IC, Ruoppolo M., Free PMC Article | 02/20/2021 |
| Our study identified a novel, deleterious, heterozygous missense mutation in MUT gene in a couple and helps to consider the genetic counselling and prenatal diagnosis more seriously for this family with clinical phenotypes of organic acidemia. | Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
Habibzadeh P, Tabatabaei Z, Farazi Fard MA, Jamali L, Hafizi A, Nikuei P, Salarian L, Nasr Esfahani MH, Anvar Z, Faghihi MA., Free PMC Article | 03/7/2020 |
| These data demonstrate durable functional benefit of hMUT mRNA and support development of this new class of therapy for a devastating, pediatric disorder. | Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia.
An D, Frassetto A, Jacquinet E, Eybye M, Milano J, DeAntonis C, Nguyen V, Laureano R, Milton J, Sabnis S, Lukacs CM, Guey LT., Free PMC Article | 12/21/2019 |
| Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation. | Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.
Haydar S, Grigorescu F, Vintilă M, Cogne Y, Lautier C, Tutuncu Y, Brun JF, Robine JM, Pugeat M, Normand C, Poucheret P, Gheorghiu ML, Georgescu C, Badiu C, Băculescu N, Renard E, Ylli D, Badiou S, Sutra T, Cristol JP, Mercier J, Gomis R, Macias JM, Litvinov S, Khusnutdinova E, Poiana C, Pasquali R, Lauro D, Sesti G, Prudente S, Trischitta V, Tsatsoulis A, Abdelhak S, Barakat A, Zenati A, Ylli A, Satman I, Kanninen T, Rinato Y, Missoni S., Free PMC Article | 12/14/2019 |
| The gene therapy method has been described for restoring the methylmalonyl-CoA mutase activity in vitro in fibroblasts from methylmalonic aciduria patients. | TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.
Erlich-Hadad T, Hadad R, Feldman A, Greif H, Lictenstein M, Lorberboum-Galski H., Free PMC Article | 10/12/2019 |
| Three novel variants of the MUT gene have been identified in patients with methylmalonic aciduria. | [Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria].
Hu S, Mei S, Bai Y, Kong X. | 06/29/2019 |
| localization of hMMAA and its colocalization with hMCM in human | Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation.
Takahashi-Iñiguez T, González-Noriega A, Michalak C, Flores ME. | 06/16/2018 |
| Study identified 41 novel mutations in patients with methylmalonic aciduria (MMA); most of them were missense mutations. The absence of MUT protein in most of the patient cell lines, suggesting protein instability as a major mechanism of deficiency in mut-type MMA. | Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Forny P, Schnellmann AS, Buerer C, Lutz S, Fowler B, Froese DS, Baumgartner MR. | 12/16/2017 |
| A total of 54 different mutations in MUT were identified in 48 patients; 16 novel mutations were identified... In five patients, the NGS panel did not confirm the diagnosis made by complementation analysis. One of these patients was found to carry 2 novel mutations | Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. | 12/16/2017 |
| we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants | Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B. | 07/1/2017 |
| In methylmalonic acidemia,a total of 10 novel MUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. | Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
Han LS, Huang Z, Han F, Ye J, Qiu WJ, Zhang HW, Wang Y, Gong ZW, Gu XF. | 07/30/2016 |
| Two novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), are associated with methylmalonic academia in a Chinese family. | [Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].
Xie B, Luo J, Fan X, Chen R, Wang J, Zhang S, Li W, Chen S. | 07/2/2016 |
| Five different known mutations in either MUT or MMACHC genes were identified in seven of the eight Chinese patients with methyl malonic acidemia. | Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
Han L, Wu S, Ye J, Qiu W, Zhang H, Gao X, Wang Y, Gong Z, Jin J, Gu X. | 06/28/2016 |
| 3 Patients with Isolated methylmalonic acidemia lacked methylmalonyl-CoA mutase (MCM) activity and had no MCM band, patients with the cobalamin defects had high MCM activity levels and an intense MCM band at about 83 kDa, in comparison to those in their parents. | Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.
Sawangareetrakul P, Ketudat Cairns JR, Vatanavicharn N, Liammongkolkul S, Wasant P, Svasti J, Champattanachai V. | 06/11/2016 |
| a novel splice site mutation in intron 12 of the MUT gene is a potential highly pathogenic allele via inhibition of alternative splicing leading to Methylmalonic aciduria. | Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR. | 04/23/2016 |
| data stratify MUT missense mutations into categories of biochemical defects, including (1) reduced protein level due to misfolding, (2) increased thermolability, (3) impaired enzyme activity, and (4) reduced cofactor response in substrate turnover | Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR., Free PMC Article | 07/25/2015 |
| This is the first description of a homozygous mutation in the N-terminal extended segment of the MCM apoenzyme. | Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).
Underhill HR, Hahn SH, Hale SL, Merritt JL 2nd. | 04/4/2015 |
| Mutations in MUT cause methylmalonic acidemia. | Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.
Gu W, Koh W, Blumenfeld YJ, El-Sayed YY, Hudgins L, Hintz SR, Quake SR., Free PMC Article | 02/21/2015 |
| Using alanine-scanning mutagenesis, we demonstrate that the switch III motif is critical for bidirectional signal transmission of the GTPase-activating protein activity of MCM and the chaperone functions of MeaB in the MeaB-MCM complex. | A switch III motif relays signaling between a B12 enzyme and its G-protein chaperone.
Lofgren M, Padovani D, Koutmos M, Banerjee R., Free PMC Article | 11/16/2013 |