Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. - Test2 - elhamkhani - TriplyDB

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

http://www.wikidata.org/entity/Q34364768

about

Navigating the B(12) road: assimilation, delivery, and disorders of cobalamin Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes Inborn errors of cobalamin absorption and metabolism.A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria.Novel coenzyme B12-dependent interconversion of isovaleryl-CoA and pivalyl-CoA.In vitamin B12 deficiency, higher serum folate is associated with increased total homocysteine and methylmalonic acid concentrations.Acquired and inherited disorders of cobalamin and folate in children.The tinker, tailor, soldier in intracellular B12 trafficking.Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.Isolation and Expression of a cDNA Encoding Methylmalonic Aciduria Type A Protein from Euglena gracilis Z.Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.Defective MMAA causes methylmalonic aciduria type cblA Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.Switch I-dependent allosteric signaling in a G-protein chaperone-B12 enzyme complex.Defective MMAA does not protect MUT MUT isomerises L-MM-CoA to SUCC-CoA MMAA:MUT binds AdoCbl Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.

P2860

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P2860

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

http://www.wikidata.org/entity/Q34364768

description

2004 nî lūn-bûn

@nan

2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@ast

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@en

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@nl

type

label

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@ast

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@en

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@nl

prefLabel

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@ast

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@en

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@nl

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Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

@en

P2093

C Melissa Dobson

http://www.w3.org/2001/XMLSchema#string

Carole Doré

http://www.w3.org/2001/XMLSchema#string

Daniel Leclerc

http://www.w3.org/2001/XMLSchema#string

David S Rosenblatt

http://www.w3.org/2001/XMLSchema#string

David Watkins

http://www.w3.org/2001/XMLSchema#string

Jamie C Tirone

http://www.w3.org/2001/XMLSchema#string

Jordan P Lerner-Ellis

http://www.w3.org/2001/XMLSchema#string

Pierre Lepage

http://www.w3.org/2001/XMLSchema#string

Roy A Gravel

http://www.w3.org/2001/XMLSchema#string

P2860

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

Classification and evolution of P-loop GTPases and related ATPases

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Genetic and biochemical analysis of human cobalamin mutants in cell culture.

MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation.

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509-516

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scholarly article

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10.1002/HUMU.20104

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6

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24

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2004-12-01T00:00:00Z

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8196232

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15523652

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