Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism (Q34919649)

5 August 2017

title

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

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methylmalonic aciduria and homocystinuria type cblF

5 August 2017

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7

Gudrun Nürnberg

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Matthias R Baumgartner

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Matthias Baumgartner

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Isabelle R Miousse

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Isabelle R Miousse

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Peter Nürnberg

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object named as

Peter Nürnberg

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5 August 2017

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Frank Rutsch

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5 August 2017

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Christian Becker

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5 August 2017

Corinne Sagné

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ORCID Public Data File 2021

author name string

Susann Gailus

2

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5 August 2017

Terttu Suormala

4

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5 August 2017

Mohammad Reza Toliat

6

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5 August 2017

Tanja Wittkampf

8

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5 August 2017

Insa Buers

9

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5 August 2017

Azita Sharifi

10

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5 August 2017

Martin Stucki

11

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5 August 2017

Horst Robenek

14

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5 August 2017

Thorsten Marquardt

15

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5 August 2017

Wolfgang Höhne

16

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5 August 2017

Bruno Gasnier

17

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5 August 2017

David S Rosenblatt

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5 August 2017

Brian Fowler

19

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5 August 2017

language of work or name

English

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publication date

11 January 2009

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5 August 2017

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5 August 2017

volume

41

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5 August 2017

issue

2

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5 August 2017

page(s)

234-239

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

5 August 2017

cites work

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Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography

21 January 2018

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Gene identification for the cblD defect of vitamin B12 metabolism

21 January 2018

1 reference

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

21 January 2018

1 reference

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

21 January 2018

1 reference

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

21 January 2018

1 reference

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

21 January 2018

1 reference

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers

21 January 2018

1 reference

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

21 January 2018

1 reference

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

21 January 2018

1 reference

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

21 January 2018

1 reference

Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus

21 January 2018

1 reference

A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice

21 January 2018

1 reference

Molecular cloning of a novel lipocalin-1 interacting human cell membrane receptor using phage display

21 January 2018

1 reference

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

21 January 2018

1 reference

The lipocalin protein family: structure and function

21 January 2018

1 reference

Lipocalin-interacting-membrane-receptor (LIMR) mediates cellular internalization of beta-lactoglobulin.

21 January 2018

1 reference

Antisense down-regulation of lipocalin-interacting membrane receptor expression inhibits cellular internalization of lipocalin-1 in human NT2 cells

21 January 2018

1 reference

Beta-lactoglobulin binds retinol and protoporphyrin IX at two different binding sites

21 January 2018

1 reference

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

GFP-tagged proteins visualized by freeze-fracture immuno-electron microscopy: a new tool in cellular and molecular medicine.

21 January 2018

1 reference

12 December 2020

GRR: graphical representation of relationship errors

1 reference

12 December 2020

Immunochemistry on ultrathin frozen sections

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12 December 2020

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism

1 reference

12 December 2020

Cobalamin-folate interrelations: a critical review

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12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

Recent advances in freeze-fracture electron microscopy: the replica immunolabeling technique

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.294

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release_rdpaxc45vffodjqihga2zd6iyi

5 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/rdpaxc45vffodjqihga2zd6iyi

24 November 2022

mapped directly with Wikidata item

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