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Literature DB >> 23678

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

H F Willard, I S Mellman, L E Rosenberg.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1978 PMID： 23678 PMCID： PMC1685448

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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36 in total

1. Activation of methionine synthase: further characterization of flavoprotein system.

Authors: K Fujii; J H Galivan; F M Huennekens
Journal: Arch Biochem Biophys Date: 1977-01-30 Impact factor: 4.013

2. Intracellular binding of radioactive hydroxocobalamin to cobalamin-dependent apoenzymes in rat liver.

Authors: I S Mellman; P Youngdahl-Turner; H F Willard; L E Rosenberg
Journal: Proc Natl Acad Sci U S A Date: 1977-03 Impact factor: 11.205

3. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

Authors: R A Gravel; K F Lam; K J Scully; Y Hsia
Journal: Am J Hum Genet Date: 1977-07 Impact factor: 11.025

4. Mutants of purine metabolism in cultured mouse and hamster cells.

Authors: K H Astrin; C T Caskey
Journal: Arch Biochem Biophys Date: 1976-10 Impact factor: 4.013

Review 5. On the nature of hereditable variation in cultured somatic cells.

Authors: L Siminovitch
Journal: Cell Date: 1976-01 Impact factor: 41.582

6. Cobalamins in fibroblasts cultured from normal control subjects and patients with methylmalonic aciduria.

Authors: J C Linnell; D M Matthews; S H Mudd; B W Uhlendorf; I J Wise
Journal: Pediatr Res Date: 1976-03 Impact factor: 3.756

7. Genetic heterogeneity in GM1-gangliosidosis.

Authors: H Galjaard; A Hoogeveen; H A de Wit-Verbeek; A J Reuser; M W Ho; D Robinson
Journal: Nature Date: 1975-09-04 Impact factor: 49.962

8. High in vivo rates of methionine biosynthesis in transformed human and malignant rat cells auxotrophic for methionine.

Authors: R M Hoffman; R W Erbe
Journal: Proc Natl Acad Sci U S A Date: 1976-05 Impact factor: 11.205

9. Time and mode of fusion of human fibroblasts treated with polyethylene glycol (PEG).

Authors: G Pontecorvo; P N Riddle; A Hales
Journal: Nature Date: 1977-01-20 Impact factor: 49.962

10. Heterogeneity in maple syrup urine disease: aspects of cofactor requirement and complementation in cultured fibroblasts.

Authors: S Singh; I Willers; H W Goedde
Journal: Clin Genet Date: 1977-04 Impact factor: 4.438

37 in total

1. Cobalamin C deficiency in an adolescent with altered mental status and anorexia.

Authors: Maria H Rahmandar; Amanda Bawcom; Mary E Romano; Rizwan Hamid
Journal: Pediatrics Date: 2014-11-03 Impact factor: 7.124

2. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

Authors: Edward V Quadros; Shao-Chiang Lai; Yasumi Nakayama; Jeffrey M Sequeira; Luciana Hannibal; Sihe Wang; Donald W Jacobsen; Sergey Fedosov; Erica Wright; Renata C Gallagher; Natascia Anastasio; David Watkins; David S Rosenblatt
Journal: Hum Mutat Date: 2010-08 Impact factor: 4.878

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

1. Activation of methionine synthase: further characterization of flavoprotein system.

2. Intracellular binding of radioactive hydroxocobalamin to cobalamin-dependent apoenzymes in rat liver.

3. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

4. Mutants of purine metabolism in cultured mouse and hamster cells.

Review 5. On the nature of hereditable variation in cultured somatic cells.

6. Cobalamins in fibroblasts cultured from normal control subjects and patients with methylmalonic aciduria.

7. Genetic heterogeneity in GM1-gangliosidosis.

8. High in vivo rates of methionine biosynthesis in transformed human and malignant rat cells auxotrophic for methionine.

9. Time and mode of fusion of human fibroblasts treated with polyethylene glycol (PEG).

10. Heterogeneity in maple syrup urine disease: aspects of cofactor requirement and complementation in cultured fibroblasts.

1. Cobalamin C deficiency in an adolescent with altered mental status and anorexia.

2. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

3. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.

4. Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

5. The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.

6. Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

7. Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.

8. Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin.

Review 9. Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

10. Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.