Microvillus inclusion disease: A genetic defect affecting apical membrane protein traffic in intestinal epithelium

Traffic

Volumn 1, Issue 1, 2000, Pages 76-83

  Ameen, Nadia A ^a   Salas, Pedro J I ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Alkaline phosphatase; Cell polarity; Cystic fibrosis transmembrane regulator; Cytoskeleton; Diarrhea; Disaccharidases; Exocytosis; Infantile pa pathology ; Intestinal diseases; Membrane proteins; Microvilli pa pathology

Indexed keywords

ACTIN; KERATIN; MEMBRANE PROTEIN;

ARTICLE; CASE REPORT; CELL CULTURE; CELL INCLUSION; CELL MEMBRANE; CELL POLARITY; CHEMISTRY; DUODENUM DISEASE; FEMALE; GENETICS; HUMAN; INTESTINE CELL; METABOLISM; MICROVILLUS; PATHOLOGY; PRESCHOOL CHILD; PROTEIN TRANSPORT; SECRETORY VESICLE; ULTRASTRUCTURE;

ACTINS; CELL MEMBRANE; CELL POLARITY; CELLS, CULTURED; CHILD, PRESCHOOL; DUODENAL DISEASES; ENTEROCYTES; FEMALE; HUMANS; INCLUSION BODIES; KERATINS; MEMBRANE PROTEINS; MICROVILLI; PROTEIN TRANSPORT; SECRETORY VESICLES;

EID: 0033754550     PISSN: 13989219     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0854.2000.010111.x     Document Type: Article

References (14)

1. Cutz E, Rhoads JM, Drumm B, Sherman PM, Durie PR, Forstner GG. Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation. New Engl J Med 1989;320: 646-651.
2. Davidson GP, Cutz E, Hamilton JR, Gall DG. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. Gastroenterology 1978;75: 783-790.
3. Phillips AD, Jenkins P, Raafat F, Walker-Smith JA. Congenital microvillus atrophy: specific diagnostic features. Arch Dis Child 1985;60: 135-140.
4. Oliva MM, Perman JA, Saavedra JM, Young-Ramsaran J, Schwarz KB. Successful intestinal transplantation for microvillus inclusion disease. Gastroenterology 1994;106: 771-774.
5. Vega-Salas DE, Salas PJI, Rodriguez-Boulan E. Modulation of the expression of an apical plasma membrane protein of Madin-Darby Canine Kidney epithelial cells: cell-cell interactions control the appearance of a novel intracellular storage compartment. J Cell Biol 1987;104: 1249-1259.
6. Vega-Salas DE, Salas PJI, Rodriguez-Boulan E. Exocytosis of vacuolar apical compartment (VAC): a cell-cell contact controlled mechanism for the establishment of the apical plasma membrane domain in epithelial cells. J Cell Biol 1988;107: 1717-1728.
7. Brignoni M, Podesta E, Mele P, Rodriguez ML, Vega-Salas DE, Salas PJI. Exocytosis of vacuolar apical compartment (VAC) in Madin-Darby canine kidney epithelial cells: cAMP is involved as second messenger. Exp Cell Res 1993;205: 171-178.
8. Brignoni M, Pignataro OP, Rodriguez ML, Alvarez A, Vega-Salas DE, Rodriguez-Boulan E, Salas PJI. Cyclic AMP modulates the rate of 'constitutive' exocytosis of apical membrane proteins in Madin-Darby canine kidney cells. J Cell Sci 1995;108: 1931-1943.
9. Pimplikar SW, Simons K. Regulation of apical transport in epithelial cells by a Gs class of heterotrimeric G protein. Nature 1993;362: 456-458.
10. Pimplikar SW, Simons K. Activators of protein kinase A stimulate apical but not basolateral transport in epithelial MDCK cells. J Biol Chem 1994;269: 19054-19059.
11. Remy L. The intracellular lumen: origin, role and implications of a cytoplasmic neostructure. Biol Cell 1986;56: 97-106.
12. Vega-Salas DE, San Martino J, Salas PJI, Baldi A. Vacuolar apical compartment (VAC) in breast carcinoma cell lines (MCF-7 and T47D): failure of the cell-cell regulated exocytosis mechanism of apical membrane. Differentiation 1993;54: 131-141.
13. Bretscher A, Reczek D, Berryman M. Ezrin: a protein requiring conformational activation to link microfilaments to the plasma membrane in the assembly of cell surface structures. J Cell Sci 1997;110(Pt 24): 3011-3018.
14. Phillips AD, Schmitz J. Familial microvillous atrophy: a clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr 1992;14: 380-396.