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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.
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
we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB (zeige PCCB Proteine), p.His194Arg, p.Val298Met in BCKDHA (zeige BCKDHA Proteine) and p.Glu286_Met290del in BCKDHB (zeige BCKDHB Proteine) gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants
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.
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.
Five different known mutations in either MUT or MMACHC (zeige MMACHC Proteine) genes were identified in seven of the eight Chinese patients with methyl malonic acidemia.
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.
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.
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
Mutations in MUT cause methylmalonic acidemia.
On a high protein diet, mutant mice display disease exacerbation, including elevated blood ammonia, and catastrophic weight loss, which, in Mut(ki/ki (zeige AXIN1 Proteine)) mice, is rescued by hydroxocobalamin treatment. This study expands knowledge of MMAuria, introduces the discovery of new biomarkers, and constitutes the first in vivo proof of principle of cobalamin treatment in mut-type MMAuria.
The mouse methylmalonic aciduria- related genes, Mmaa (zeige MMAA Proteine), Mmab (zeige MMAB Proteine), and Mut may have specialized functions depending on the tissue or cell type.
methylmalonyl-CoA mutase has a role in methylmalonic aciduria and early neonatal lethality
Mitochondrial dysfunction in Mut is reported.
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria.
methylmalonyl Coenzyme A mutase
, methylmalonyl-CoA mutase, mitochondrial
, methylmalonyl CoA mutase
, methylmalonyl-CoA isomerase
, methylmalonyl-Coenzyme A mutase