From holoprosencephaly to osteopathology: role of multifunctional endocytic receptors in absorptive epithelia

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Item Type:	Review
Title:	From holoprosencephaly to osteopathology: role of multifunctional endocytic receptors in absorptive epithelia
Creators Name:	Mueller, D., Nykjaer, A. and Willnow, T.E.
Abstract:	Megalin and cubilin are two multifunctional endocytic receptors expressed in many absorptive epithelia including the yolk sac, the renal proximal tubules, and the intestine. In these tissues, the receptors act in concert to mediate the cellular uptake of a variety of lipoproteins and vitamin/carrier complexes. Recent studies in animal models and in patients suffering from receptor gene defects have highlighted the crucial role played by the receptors in systemic lipid and vitamin homeostasis, and the severe defects that result from receptor dysfunction. Here, we will review the molecular mechanisms that underlie normal receptor activity and that cause disease in the receptor-deficient organism.
Keywords:	Cubilin, Fanconi Syndrome, Imerslund Grasbeck Syndrome, LDL Receptor Gene Family, Megalin, Osteomalacia, Retinol-Binding Protein, Sonic Hedgehog, Vitamin D-binding Protein, Animals, Mice
Source:	Annals of Medicine
ISSN:	0785-3890
Publisher:	Royal Soc MEedicine Press Ltd
Volume:	35
Number:	5
Page Range:	290-299
Date:	2003
Official Publication:	https://doi.org/10.1080/07853890310006488
PubMed:	View item in PubMed

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