Article

A frameshift mutation in the cubilin gene (<i><scp>CUBN</scp></i>) in <scp>B</scp>eagles with <scp>I</scp>merslund–<scp>G</scp>räsbeck syndrome (selective cobalamin malabsorption)

2013-10-27

Abstract excerpt

Summary Mammals are unable to synthesize cobalamin or vitamin B 12 and rely on the uptake of dietary cobalamin. The cubam receptor expressed on the intestinal endothelium is required for the uptake of cobalamin from the gut. Cubam is composed of two protein subunits, amnionless and cubilin, which are encoded by the AMN and CUBN genes respectively. Loss‐of‐function mutations in either the AMN or the CUBN gene lead...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c42c2314-37dc-5c95-a694-b69f2bb56356
DOI: 10.1111/age.12094

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A frameshift mutation in the cubilin gene (<i><scp>CUBN</scp></i>) in <scp>B</scp>eagles with <scp>I</scp>merslund–<scp>G</scp>räsbeck syndrome (selective cobalamin malabsorption)DOI 10.1111/age.12094Read

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)Semantic proximity Read

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Semantic proximity Read

Novel CUBN Mutation in a Young Child With Megaloblastic Anemia.Semantic proximity Read

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.Semantic proximity Read

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.Semantic proximity Read

Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles.Semantic proximity Read

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndromeSemantic proximity Read

Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption.Semantic proximity Read

Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.Semantic proximity Read

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.Semantic proximity Read

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsSemantic proximity Read

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).Semantic proximity Read