Multidrug permeases and subcellular cholesterol transport
Nature Reviews Molecular Cell BiologyPublished 1 September 2001
Yiannis A. Ioannou
Citations94
SJR quartileQ1
SJR score37.35
SNIP20.23
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TL;DR
Characterization of their protein products shows that NPC1 and ABCA1 are permeases that belong to two different superfamilies of efflux pumps, which might be important in subcellular lipid and cholesterol transport.
Abstract
Studies of Niemann-Pick C (NPC) and Tangier diseases have led to the identification of the causative genes, NPC1 and ABCA1, respectively. Characterization of their protein products shows that NPC1 and ABCA1 are permeases that belong to two different superfamilies of efflux pumps, which might be important in subcellular lipid and cholesterol transport.
Keywords
ChemistryMedicine
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146 Citations2001Mei Zhang, Nancy K. Dwyer +7 more
It is concluded that the neuropathology and cellular lysosomal lipid accumulation in NPC1 disease results, at least in part, from striking defects in late endosomal tubulovesicular trafficking.
Biology of ReproductionMolecular cloning and characterization of HE1, a major secretory protein of the human epididymis
145 Citations1996Christiane Kirchhoff
The cDNA sequence of HE1, a novel human epididymal gene product isolated by differential screening, predicts an abundant, small secretory glycopeptide, which is identical to that of EPI-1, the chimpanzee homologous gene product, and to ESP14.6, the macaque homologus.
International Journal of CancerMLN64 exhibits homology with the steroidogenic acute regulatory protein (STAR) and is over-expressed in human breast carcinomas
137 Citations1997Christel Moog‐Lutz, Catherine Tomasetto +7 more
The homology between the C‐terminal part of MLN64 and the functional StAR domain (SHD) suggests that MLN 64 and StAR, athough distributed in different cellular compartments, may both play a role in steroidogenesis.
Current Opinion in LipidologyABC transporters in cellular lipid trafficking
137 Citations2000Gerd Schmitz, Wolfgang E. Kaminski +1 more
Differentiation dependent expression of a large number of ABC transporters in monocytes/macrophages and their regulation by sterol flux render these transporter molecules potentially critical players in atherogenesis and other chronic inflammatory diseases.
Experimental Biology and MedicineRecent Advances in Membrane Cholesterol Domain Dynamics and Intracellular Cholesterol Trafficking
135 Citations1996F Schroeder, Andrey A. Frolov +7 more
Based on the fundamental observation that cholesterol is not distributed uniformly in the cell, three key concepts have contributed to recent advances in this field: First, cholesterol is asymmetrically distributed across the cell surface plasma membrane, wherein it translocates rapidly.
The American Journal of Human GeneticsThe Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G3097→T Transversion in NPC1
125 Citations1998W.L. Greer, D. Christie Riddell +6 more
A point mutation within this gene (G3097-->T; Gly992-->Trp) is identified that shows complete linkage disequilibrium with NPD, confirming that NPD is an allelic variant of NPC1.
The American Journal of Human GeneticsMutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain
123 Citations1999W.L. Greer, Melanie J. Dobson +4 more
The intron/exon boundaries of eight exons from the conserved 3' portion of NPC1, the gene associated with most cases of Niemann-Pick type II disease, are determined and it is suggested that integrity of this region is particularly critical for normal functioning of the protein.
Journal of Biological ChemistryType C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts.
123 Citations1986Peter G. Pentchev, Howard S. Kruth +5 more
After 2 days of LDL uptake, rates of intracellular cholesteryl ester synthesis in mutant cells paralleled the rates of esterification in normal cells suggesting that specific early in vivo expression of the acyltransferase may be affected in this disorder.
Journal of Biological ChemistryNiemann-Pick Type C1 (NPC1) Overexpression Alters Cellular Cholesterol Homeostasis
115 Citations2000Elizabeth E. Millard, Kalpana Srivastava +3 more
Two studies generate stable Chinese hamster ovary cell lines overexpressing the human NPC1 protein and provide important new insights into the role of NPC1 in the determination of the levels and distribution of cellular cholesterol.
Journal of Lipid ResearchDistribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias
113 Citations1976Glyn Dawson, Arthur W. Kruski +1 more
GSL are associated only with the major lipoprotein classes in both normal and dyslipoproteinemic serum and the relative proportions of the five glycosphingolipids are not significantly affected by Dyslipoproteinemia; the mode of association or the structural and functional significance of such an association remains undetermined.
Journal of Biological ChemistrySterol-modulated Glycolipid Sorting Occurs in Niemann-Pick C1 Late Endosomes
111 Citations2001Mei Zhang, Nancy K. Dwyer +10 more
The Journal of Cell BiologyIsolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking.
109 Citations1990Ken M. Cadigan, Diane M. Spillane +1 more
The available evidence indicates that the mutant cells can take up and process LDL normally, but the hydrolyzed cholesterol accumulates in an acidic compartment, probably the lysosomes, where it can not be transported to its normal intracellular destinations.
Journal of Molecular MedicineThe patched signaling pathway in tumorigenesis and development: lessons from animal models
108 Citations1999Heidi Hahn, Leszek Wojnowski +2 more
The Sonic Hedgehog/Patched/Smoothened signaling pathway is thus rapidly emerging as one of the most important regulators of oncogenic transformation and plays an important role during mammalian embryonic development.
DevelopmentThe <i>hedgehog</i> gene family in <i>Drosophila</i> and vertebrate development
106 Citations1994Michael J. Fietz, Jean‐Paul Concordet +6 more
The segment polarity gene hedgehog plays a central role in cell patterning during embryonic and post-embryonic development of the dipteran, Drosophila melanogaster.
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