Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism (Q24297470)

cobalamin metabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Peter Nürnberg

11

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David Coelho

David Coelho

1

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Isabelle R Miousse

Isabelle R Miousse

3

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Matthias R Baumgartner

Matthias R Baumgartner

24

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Eugen Mengel

Eugen Mengel

17

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Frank Rutsch

23

Frank Rutsch

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Holger Thiele

12

Holger Thiele

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author name string

Jaeseung C Kim

2

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Stephen Fung

4

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Marcel du Moulin

5

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Insa Buers

6

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Terttu Suormala

7

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Patricie Burda

8

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Michele Frapolli

9

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Martin Stucki

10

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Horst Robenek

13

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Wolfgang Höhne

14

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Nicola Longo

15

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Marzia Pasquali

16

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David Watkins

18

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Eric A Shoubridge

19

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Jacek Majewski

20

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David S Rosenblatt

21

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Brian Fowler

Identification of a fourth half ABC transporter in the human peroxisomal membrane

22

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language of work or name

English

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publication date

October 2012

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published in

Nature Genetics

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volume

44

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issue

10

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page(s)

1152-5

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cites work

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A method and server for predicting damaging missense mutations

20 April 2017

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ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

20 April 2017

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70-kDa peroxisomal membrane protein related protein (P70R/ABCD4) localizes to endoplasmic reticulum not peroxisomes, and NH2-terminal hydrophobic property determines the subcellular localization of ABC subfamily D proteins

20 April 2017

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Proteomic analysis of rat liver peroxisome: presence of peroxisome-specific isozyme of Lon protease

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Rat liver peroxisomes after fibrate treatment. A survey using quantitative mass spectrometry

20 April 2017

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Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling

20 April 2017

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Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p

20 April 2017

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Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

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Mapping short DNA sequencing reads and calling variants using mapping quality scores

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Fast and accurate short read alignment with Burrows-Wheeler transform

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The Sequence Alignment/Map format and SAMtools

20 April 2017

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The PredictProtein server

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Gene identification for the cblD defect of vitamin B12 metabolism

20 April 2017

1 reference

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

21 January 2018

1 reference

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

21 January 2018

1 reference

The peroxisomal ABC transporter family

21 January 2018

1 reference

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

21 January 2018

1 reference

Molecular basis of multidrug transport by ABC transporters

21 January 2018

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In vitro functional characterization of BtuCD-F, the Escherichia coli ABC transporter for vitamin B12 uptake.

21 January 2018

1 reference

Identification of multidrug resistance protein 1 (MRP1/ABCC1) as a molecular gate for cellular export of cobalamin.

21 January 2018

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Plant ABC proteins--a unified nomenclature and updated inventory.

21 January 2018

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Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator.

21 January 2018

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The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

21 January 2018

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Efficient Transfer of Cloned DNA into Human Diploid Cells: Protoplast Fusion in Suspension

21 January 2018

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Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

21 January 2018

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Construction and characterization of a highly stable human: rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies

21 January 2018

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Evaluation of phenotypic alteration by microcell-mediated chromosome transfer

21 January 2018

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Post- and prenatal diagnostic methods for the homocystinurias

21 January 2018

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Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

21 January 2018

1 reference

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

21 January 2018

1 reference

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

21 January 2018

1 reference

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

21 January 2018

1 reference

Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22922874

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cobalamin metabolism in methionine-dependent human tumour and leukemia cell lines.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22922874

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2386

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1134725

1009557310

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1134725

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference