Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import

Item
http://www.wikidata.org/entity/Q24615696
A human homologue of Escherichia coli ClpP caseinolytic protease: recombinant expression, intracellular processing and subcellular localizationGenetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementationMolecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell linesAdenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytesMitochondrial disorders. A diagnostic challenge in clinical chemistry.Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability.Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic AcidemiaAn unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees.Mitochondrial protein transport--a system in search of mutations.
P2860

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import

Item
http://www.wikidata.org/entity/Q24615696
description
1987 nî lūn-bûn
@nan
1987 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի մարտին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Immunochemical studies of fibr ...... ring with mitochondrial import
@ast
Immunochemical studies of fibr ...... ring with mitochondrial import
@en
Immunochemical studies of fibr ...... ring with mitochondrial import
@nl
type
label
Immunochemical studies of fibr ...... ring with mitochondrial import
@ast
Immunochemical studies of fibr ...... ring with mitochondrial import
@en
Immunochemical studies of fibr ...... ring with mitochondrial import
@nl
prefLabel
Immunochemical studies of fibr ...... ring with mitochondrial import
@ast
Immunochemical studies of fibr ...... ring with mitochondrial import
@en
Immunochemical studies of fibr ...... ring with mitochondrial import
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Immunochemical studies of fibr ...... ring with mitochondrial import
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932