Results 131 to 140 of about 1,339 (150)

The Mmachc gene is required for pre-implantation embryogenesis in the mouse

Molecular Genetics and Metabolism, 2014
Patients with mutations in MMACHC have the autosomal recessive disease of cobalamin metabolism known as cblC. These patients are unable to convert cobalamin into the two active forms, methylcobalamin and adenosylcobalamin and consequently have elevated homocysteine and methylmalonic acid in blood and urine.
Maira A, Moreno-Garcia, Mihaela, Pupavac, David S, Rosenblatt, Michel L, Tremblay, Loydie A, Jerome-Majewska   +4 more
openaire   +2 more sources

Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, 2022
The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by methylmalonic aciduria and homocystinuria. The clinical consequences of this disease are devastating and, even when early treated with current therapies, the affected children manifest symptoms involving vision, growth, and learning.
Passantino, Rosa, Mangione, Maria Rosalia, Ortore, Maria Grazia, Costa, Maria Assunta, Provenzano, Alessia, Amenitsch, Heinz, Sabbatella, Raffaele, Alfano, Caterina, Martorana, Vincenzo, Vilasi, Silvia   +9 more
openaire   +2 more sources

Abnormal Chondrocyte Development in a Zebrafish Model of cblC Syndrome Restored by an MMACHC Cobalamin Binding Mutant

Differentiation, 2023
Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described.
Briana E Pinales, Anita M Quintana, Victoria L Castro   +2 more
exaly   +3 more sources

Experimental insights into MMACHC variants using a novel minigene system

Molecular Genetics and Metabolism
Methylmalonic aciduria and homocystinuria, cblC type, the most prevalent disorder of cobalamin (cbl) metabolism, results from genetic variants in the MMACHC gene. Although public databases document numerous splice variants of this gene, experimental evidence confirms pathogenicity for only a limited proportion.We constructed a plasmid system ...
Yan, Dong, Xiaowei, Xu, Weiran, Li, Leyi, Wang, Bo, Wu, Ping, Wang, Dong, Li, Jianbo, Shu, Chunquan, Cai   +8 more
openaire   +2 more sources

Mmachc is required for mouse embryonic development

2011
Majewska, Loydie (Supervisor2)
openaire   +1 more source

Cobalamin C defect‐hemolytic uremic syndrome caused by new mutation in MMACHC

Pediatrics International, 2016
AbstractAtypical hemolytic uremic syndrome (aHUS) is mostly linked to defects in the regulation of alternative complement pathway, but a rare form is caused by an inherited defect of cobalamin 1 metabolism. Cobalamin C (cblC) deficiency is an autosomal recessive disorder of vitamin B12 metabolism that results from mutations in methylmalonic aciduria ...
Adrovic, Amra, Canpolat, Nur, Caliskan, Salim, Sever, Lale, Kıykım, Ertugrul, Agbas, Ayse, Baumgartner, Matthias R   +6 more
openaire   +4 more sources

[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria.The MMACHC gene mutation was detected using polymerase chain reaction (PCR) and DNA sequencing.
Hui, Tang, Hu, Hao, Shao-hui, Tang, Xuan, Chen, Fang, Liu, Qing-bing, Cha, Yue-qin, Li, Hong-jian, Li, Liang, Sun, Ming, Yu, Xin, Xiao, Tian-hong, Zhou   +11 more
openaire   +1 more source

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Molecular Genetics and Metabolism, 2008
Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12). The recent identification of the disease gene, MMACHC, has permitted preliminary genotype-phenotype correlations. We studied 24 Italian and 17 Portuguese patients with cblC defect to illustrate the spectrum of mutations in a ...
NOGUEIRA C, AIELLO C, CERONE, ROBERTO, MARTINS E, CARUSO U, MORONI I, RIZZO C, DIOGO L, LEÃO E, KOK F, DEODATO F, SCHIAFFINO MC, BENZI S, DNHAIVE O, BARBOT C, SEQUEIRA S, LOCATELLI M, SANTORELLI FM, UZIEL G, VILARINHO L, DIONISI VICI C.   +20 more
openaire   +3 more sources

Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism

Molecular Genetics and Metabolism, 2012
The genes MMACHC and MMADHC encode critical proteins involved in the intracellular metabolism of cobalamin. Two clinical features, homocystinuria and methylmalonic aciduria, define inborn errors of these genes. Based on disease phenotypes, MMADHC acts at a branch point for cobalamin delivery, apparently exerting its function through interaction with ...
Justin C, Deme, Isabelle R, Miousse, Maria, Plesa, Jaeseung C, Kim, Mark A, Hancock, Wayne, Mah, David S, Rosenblatt, James W, Coulton   +7 more
openaire   +2 more sources

[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023
To carry out Sanger sequencing for MMACHC gene variants among 65 Chinese pedigrees affected with combined methylmalonic aciduria and homocysteinemia, and summarize their genetic and clinical characteristics and prognosis.Clinical characteristics of the 65 children identified with Methylmalonic acidemia and homocysteinemia at the Children's Hospital ...
Chongfen, Chen, Yaodong, Zhang, Lili, Ge, Lei, Liu, Xiaoman, Zhang, Shiyue, Mei, Shuying, Luo   +6 more
openaire   +1 more source