Literature DB >> 500677

Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells.

I Mellman, H F Willard, P Youngdahl-Turner, L E Rosenberg.   

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Year:  1979        PMID： 500677

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


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  13 in total

1.  The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

Authors:  Luciana Hannibal; Patricia M DiBello; Michelle Yu; Abby Miller; Sihe Wang; Belinda Willard; David S Rosenblatt; Donald W Jacobsen
Journal:  Mol Genet Metab       Date:  2011-03-24       Impact factor: 4.797

2.  Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.

Authors:  G M Enns; A J Barkovich; D S Rosenblatt; D R Fredrick; K Weisiger; C Ohnstad; S Packman
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

Review 3.  Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Authors:  Nuria Carrillo-Carrasco; Randy J Chandler; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

4.  A critical intracellular concentration of fully reduced non-methylated folate polyglutamates prevents macrocytosis and diminished growth rate of human cell line K562 in culture.

Authors:  D Watkins; B A Cooper
Journal:  Biochem J       Date:  1983-08-15       Impact factor: 3.857

Review 5.  Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

Authors:  D Sean Froese; Roy A Gravel
Journal:  Expert Rev Mol Med       Date:  2010-11-29       Impact factor: 5.600

6.  Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

Authors:  D S Froese; S Healy; M McDonald; G Kochan; U Oppermann; F H Niesen; R A Gravel
Journal:  Mol Genet Metab       Date:  2010-02-15       Impact factor: 4.797

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

Authors:  A Ribes; P Briones; M A Vilaseca; M Lluch; M Rodes; A Maya; J Campistol; P Pascual; T Suormala; R Baumgartner
Journal:  Eur J Pediatr       Date:  1990-03       Impact factor: 3.183

8.  Hydroxocobalamin dose escalation improves metabolic control in cblC.

Authors:  N Carrillo-Carrasco; J Sloan; D Valle; A Hamosh; C P Venditti
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

9.  Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.

Authors:  D S Rosenblatt; B A Cooper; A Pottier; H Lue-Shing; N Matiaszuk; K Grauer
Journal:  J Clin Invest       Date:  1984-12       Impact factor: 14.808

10.  Decyanation of vitamin B12 by a trafficking chaperone.

Authors:  Jihoe Kim; Carmen Gherasim; Ruma Banerjee
Journal:  Proc Natl Acad Sci U S A       Date:  2008-09-08       Impact factor: 11.205
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