Decreased activity of intestinal and urinary intrinsic factor in Gräsbeck-Imerslund disease

Guéant, Jean‐Louis; Saunier, Monique; Gastin, Isabelle; Safi, Amal; Lamireau, T.; Duclos, Bernard; Bigard, M A; Gräsbeck, Ralph

doi:10.1016/0016-5085(95)90122-1

Cited by 37 publications

(28 citation statements)

References 17 publications

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“…4,20 In the present report, we observed also a dramatic AMN mutation and cubilin expression haematologica | 2011; 96(11) Figure 1). This was not due to a saturation of the receptor by excreted proteins, since the first step of the assay procedure includes an EDTA washing of the receptor adsorbed to phenyl-Sepharose in order to remove the endogenous protein ligands.…”

Section: Resultssupporting

confidence: 71%

“…13 IF-Cbl receptor activity was assayed in urine by radioisotope binding assay, as previously described. 4 Briefly, urine samples were concentrated 50-fold through a YM-5 membrane and urine IF-Cbl receptor activity was determined by phenyl-Sepharose radioisotope assay using 50 μL aliquots. For this a two-step procedure that involved the washing of receptor adsorbed to the gel with EDTA was used to remove the endogenous ligands.…”

Section: Design and Methodsmentioning

confidence: 99%

“…15,16 IF-Cbl receptor activity was assessed in cell culture medium by gel filtration chromatography, as previously described. 4 …”

Section: Design and Methodsmentioning

confidence: 99%

“…Presentation is hetereogeneous and includes absence of expression, increased degradation or decreased affinity of IFCbl receptor. 4,5,6 IGS has also been explained as mutations in the cubilin gene (CUBN OMIM # 602997) located on chromosome 10 or in the amnionless gene (AMN OMIM # 605799) located on chromosome 14. [7][8][9][10] These two proteins are parts of the IF-Cbl receptor complex, also called cubam, which is expressed in the ileal mucosa and in the renal proximal tubules.…”

Section: Introductionmentioning

confidence: 99%

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Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7

Namour¹,

Dobrovoljski²,

Chéry³

et al. 2011

Haematologica

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Section: Resultssupporting

confidence: 71%

Section: Design and Methodsmentioning

confidence: 99%

“…15,16 IF-Cbl receptor activity was assessed in cell culture medium by gel filtration chromatography, as previously described. 4 …”

Section: Design and Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7

Namour¹,

Dobrovoljski²,

Chéry³

et al. 2011

Haematologica

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“…CUBN and AMN form a complex called cubam that represents part of the IF receptor responsible for intestinal Cbl uptake and renal protein reabsorption. Imerslund-Gr ä sbeck syndrome (IGS) can lead to low expression of IF-receptor, increased degradation [ 151 ], or decreased affinity of IF-Cbl to the receptor [ 152 ]. A recent study identified genetic mutations in AMN causing a premature stop codon and a strong decrease in the luminal receptor activity [ 153 ].…”

Section: Imerslund-gr ä Sbeck Syndrome (Igs) or Juvenile Megaloblastimentioning

confidence: 99%

Genetic defects in folate and cobalamin pathways affecting the brain

Kirsch

Herrmann

Obeid

2012

Clinical Chemistry and Laboratory Medicine (CCLM)

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Folate and cobalamin are necessary for early brain development and function. Deficiency of folate or cobalamin during pregnancy can cause severe malformation in the central nervous system such as neural tube defects. After birth, folate and cobalamin deficiency can cause anemia, failure to thrive, recurrent infections, psychiatric and neurological symptoms. The folate and the homocysteine metabolic pathways interact at a central step where 5-methyltetrahydrofolate donates its methyl group to homocysteine to produce methionine and tetrahydrofolate. Methyl cobalamin and folate interact at this critical step. Both nutrients have a crucial role in DNA synthesis and in delivering S-adenosylmethionine, the universal methyl donor. Severe and mild inherited disorders in folate and cobalamin pathways have been described. The two groups of disorders share some similarities, but differ in the molecular mechanism, metabolic dysregulation, and disease management. This review summarizes selected disorders, including rare and common mutations that affect folate and cobalamin absorption, transport, or dependent enzymes. When the mutations are discovered early enough, many of the described disorders are easily treatable by B vitamin supplementation, which often prevents or reverses the manifestation of the disease. Therefore, the screening for mutations is recommended and should be carried out as early as possible: after occurrence of the first symptoms or when a certain constellations of the folate and cobalamin related markers are measured, such as elevated homocysteine and/or methylmalonic acid.

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Cobalamin Binding Proteins

Nexø

1998

Vitamin B12 and B12‐Proteins

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Decreased activity of intestinal and urinary intrinsic factor in Gräsbeck-Imerslund disease

Cited by 37 publications

References 17 publications

Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7

Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7

Genetic defects in folate and cobalamin pathways affecting the brain

Cobalamin Binding Proteins

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