Literature DB >> 20894

Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin.

H F Willard, L E Rosenberg.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1977        PMID： 20894     DOI： 10.1016/0006-291x(77)90511-3

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


× No keyword cloud information.
  19 in total

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

Authors:  M F Wilkemeyer; A M Crane; F D Ledley
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808

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

Authors:  I Mellman; H F Willard; L E Rosenberg
Journal:  J Clin Invest       Date:  1978-11       Impact factor: 14.808

3.  Methylmalonic Acidemia Diagnosis by Laboratory Methods.

Authors:  Fatemeh Keyfi; Saeed Talebi; Abdol-Reza Varasteh
Journal:  Rep Biochem Mol Biol       Date:  2016-10

4.  Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.

Authors:  N H Thomä; P F Leadlay
Journal:  Protein Sci       Date:  1996-09       Impact factor: 6.725

Review 5.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

6.  Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.

Authors:  D T Whelan; E Ryan; M Spate; M Morris; R M Hurley; R Hill
Journal:  Can Med Assoc J       Date:  1979-05-19       Impact factor: 8.262

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

Authors:  J F Kolhouse; C Utley; W A Fenton; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

8.  Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.

Authors:  C L Drennan; R G Matthews; D S Rosenblatt; F D Ledley; W A Fenton; M L Ludwig
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-28       Impact factor: 11.205

9.  Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

Authors:  A M Crane; L S Martin; D Valle; F D Ledley
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

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

Authors:  W A Fenton; A M Hack; J P Kraus; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1987-03       Impact factor: 11.205
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.