The recognition of eight discrete genetic complementation groups among patients with
inherited cobalamin disorders provided early insights into the complexity of a cofactor …

Receptor-mediated endocytosis in renal proximal tubule epithelial cells (PTECs) is important
for the reabsorption and metabolization of proteins and other substances, including carrier …

Cobalamin deficiency in the newborn usually results from cobalamin deficiency in the
mother. Megaloblastic anaemia, pancytopenia and failure to thrive can be present …

The endocytic receptors megalin and cubilin are highly expressed in the early parts of the
endocytic apparatus of the renal proximal tubule. The two receptors appear to be …

Imerslund-Gräsbeck syndrome (IGS) or selective vitamin B 12 (cobalamin) malabsorption
with proteinuria is a rare autosomal recessive disorder characterized by vitamin B 12 …

This article is the third and last in a series entitled The Finnish Disease Heritage I–III. All the
36 rare hereditary diseases belonging to this entity are described for clinical and molecular …

The kidney is the main site of hemoglobin clearance and degradation in conditions of severe
hemolysis. Herein it is reported that megalin and cubilin, two epithelial endocytic receptors …

The basolateral recycling and transcytotic pathways of epithelial cells were previously
defined using markers such as transferrin (TfR) and polymeric IgA (pIgR) receptors. In …

The tandem endocytic receptors megalin and cubilin are important proteins in renal
pathology. The molecular mechanisms controlling proximal tubule reabsorption of proteins …

Cubilin has recently been shown to function as an endocytic receptor for high density
lipoproteins (HDL). The lack of apparent transmembrane and cytoplasmic domains in cubilin …