Literature DB >> 20524213

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

Edward V Quadros1, 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.   

Abstract

Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin-bound cobalamin (holo-TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/CD320, the gene for the receptor for cellular uptake of holo-TC, identified a homozygous single codon deletion, c.262_264GAG (p.E88del), resulting in the loss of a glutamic acid residue in the low-density lipoprotein receptor type A-like domain. Inserting the codon by site-directed mutagenesis fully restored TCblR function.

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Year:  2010        PMID： 20524213      PMCID： PMC2909035          DOI： 10.1002/humu.21297

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  30 in total

1.  Transport of vitamin B12 into mouse leukemia cells.

Authors:  P M DiGirolamo; F M Huennekens
Journal:  Arch Biochem Biophys       Date:  1975-06       Impact factor: 4.013

2.  Methylmalonic aciduria in the newborn.

Authors:  V E Shih; J T Coulombe; M Maties; H L Levy
Journal:  N Engl J Med       Date:  1976-12-02       Impact factor: 91.245

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

Authors:  H F Willard; I S Mellman; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1978-01       Impact factor: 11.025

4.  Rapid analysis of cobalamin coenzymes and related corrinoid analogs by high-performance liquid chromatography.

Authors:  D W Jacobsen; R Green; E V Quadros; Y D Montejano
Journal:  Anal Biochem       Date:  1982-03-01       Impact factor: 3.365

5.  Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Authors:  C Prasad; D S Rosenblatt; K Corley; A E L Cairney; C A Rupar
Journal:  J Inherit Metab Dis       Date:  2008-10-29       Impact factor: 4.982

6.  Benign methylmalonic aciduria.

Authors:  F D Ledley; H L Levy; V E Shih; R Benjamin; M J Mahoney
Journal:  N Engl J Med       Date:  1984-10-18       Impact factor: 91.245

7.  The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

Authors:  John C Fyfe; Mette Madsen; Peter Højrup; Erik I Christensen; Stephan M Tanner; Albert de la Chapelle; Qianchuan He; Søren K Moestrup
Journal:  Blood       Date:  2003-10-23       Impact factor: 22.113

8.  Cobalamin status and its biochemical markers methylmalonic acid and homocysteine in different age groups from 4 days to 19 years.

Authors:  Anne-Lise Bjørke Monsen; Helga Refsum; Trond Markestad; Per Magne Ueland
Journal:  Clin Chem       Date:  2003-12       Impact factor: 8.327

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.  Inherited lack of transcobalamin II in serum and megaloblastic anaemia: a further patient.

Authors:  J F Burman; D L Mollin; N A Sourial; R A Sladden
Journal:  Br J Haematol       Date:  1979-09       Impact factor: 6.998
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  24 in total

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

Authors:  Carmen Gherasim; Luciana Hannibal; Deepa Rajagopalan; Donald W Jacobsen; Ruma Banerjee
Journal:  Biochimie       Date:  2013-02-14       Impact factor: 4.079

Review 2.  Cellular uptake of cobalamin: transcobalamin and the TCblR/CD320 receptor.

Authors:  Edward V Quadros; Jeffrey M Sequeira
Journal:  Biochimie       Date:  2013-02-14       Impact factor: 4.079

3.  The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.

Authors:  Aneliya Velkova; Jennifer E L Diaz; Faith Pangilinan; Anne M Molloy; James L Mills; Barry Shane; Erica Sanchez; Conal Cunningham; Helene McNulty; Cheryl D Cropp; Joan E Bailey-Wilson; Alexander F Wilson; Lawrence C Brody
Journal:  Hum Mol Genet       Date:  2017-12-15       Impact factor: 6.150

4.  Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.

Authors:  David J Bernard; Faith J Pangilinan; Jun Cheng; Anne M Molloy; Lawrence C Brody
Journal:  Hum Mol Genet       Date:  2018-10-15       Impact factor: 6.150

Review 5.  Vitamin B12 transport from food to the body's cells--a sophisticated, multistep pathway.

Authors:  Marianne J Nielsen; Mie R Rasmussen; Christian B F Andersen; Ebba Nexø; Søren K Moestrup
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-05-01       Impact factor: 46.802

6.  Maternofetal transport of vitamin B12: role of TCblR/CD320 and megalin.

Authors:  Kaveri Arora; Jeffrey M Sequeira; Edward V Quadros
Journal:  FASEB J       Date:  2017-03-28       Impact factor: 5.191

Review 7.  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

8.  Mapping the functional domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin.

Authors:  Wenxia Jiang; Yasumi Nakayama; Jeffrey M Sequeira; Edward V Quadros
Journal:  FASEB J       Date:  2013-04-19       Impact factor: 5.191

9.  Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.

Authors:  Sabrina Malvagia; Christopher A Haynes; Laura Grisotto; Daniela Ombrone; Silvia Funghini; Elisa Moretti; Kathleen S McGreevy; Annibale Biggeri; Renzo Guerrini; Raquel Yahyaoui; Uttam Garg; Mary Seeterlin; Donald Chace; Victor R De Jesus; Giancarlo la Marca
Journal:  Clin Chim Acta       Date:  2015-09-11       Impact factor: 3.786

10.  Incidental medical information in whole-exome sequencing.

Authors:  Benjamin D Solomon; Donald W Hadley; Daniel E Pineda-Alvarez; Aparna Kamat; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Pedro Cruz; Alice C Young; Benjamin E Berkman; Settara C Chandrasekharappa; James C Mullikin
Journal:  Pediatrics       Date:  2012-05-14       Impact factor: 7.124
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