Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.
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Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalaminsProcessing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene productMolecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTThe C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioningFunctional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyGenetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesInborn errors of cobalamin absorption and metabolism.Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryonsCombined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Recognition of two intracellular cobalamin binding proteins and their identification as methylmalonyl-CoA mutase and methionine synthetaseGenetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.Kinetic analysis of genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblastsMapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiencyComplementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression.Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from patients with defective synthesis of 5'-deoxyadenosylcobalamin and methylcobalamin.The tinker, tailor, soldier in intracellular B12 trafficking.Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).Peroxisomal disorders: overview.Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.Metabolic etiologies in West syndrome.Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency.
P2860
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P2860
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.
description
1975 nî lūn-bûn
@nan
1975 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1975 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1975年の論文
@ja
1975年論文
@yue
1975年論文
@zh-hant
1975年論文
@zh-hk
1975年論文
@zh-mo
1975年論文
@zh-tw
1975年论文
@wuu
name
Genetic complementation in het ...... ctive in cobalamin metabolism.
@ast
Genetic complementation in het ...... ctive in cobalamin metabolism.
@en
type
label
Genetic complementation in het ...... ctive in cobalamin metabolism.
@ast
Genetic complementation in het ...... ctive in cobalamin metabolism.
@en
prefLabel
Genetic complementation in het ...... ctive in cobalamin metabolism.
@ast
Genetic complementation in het ...... ctive in cobalamin metabolism.
@en
P2093
P2860
P356
P1476
Genetic complementation in het ...... ctive in cobalamin metabolism.
@en
P2093
Mahoney MJ
Rosenberg LE
P2860
P304
P356
10.1073/PNAS.72.8.3181
P407
P577
1975-08-01T00:00:00Z