A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention.

A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal a-glucosidase results in Golgi retention

Identification of a Glutamine to Proline Substitution That Leads to a Transport Block of Sucrase-Isomaltase in a Pre-Golgi Compartment

Congenital sucrase-isomaltase deficiency is an example of a disease in which mutant phenotypes generate transportincompetent molecules. Here, we analyze at the molecular level a phenotype of congenital sucrase-isomaltase deficiency in which sucrase-isomaltase (SI) is not transported to the brush border membrane but accumulates as a mannoserich precursor in the endoplasmic reticulum (ER), ER– Go...

A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal α-glucosidase results in Golgi retention

Catharina E. C. Moolenaar1,*,†, Joke Ouwendijk2,*, Michael Wittpoth1, Heleen A. Wisselaar3, Hans-Peter Hauri4, Leo A. Ginsel2, Hassan Y. Naim1,‡ and Jack A. M. Fransen2 1Protein Secretion Group, Institute of Microbiology, Heinrich-Heine-University of Düsseldorf, Universitätsstrasse 1, D-40225 Düsseldorf, Germany 2Department of Cell Biology and Histology, University of Nijmegen, PO Box 9101, 650...

Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.

Congenital sucrase-isomaltase deficiency is an example of a disease in which mutant phenotypes generate transport-incompetent molecules. Here, we analyze at the molecular level a phenotype of congenital sucrase-isomaltase deficiency in which sucrase-isomaltase (SI) is not transported to the brush border membrane but accumulates as a mannose-rich precursor in the endoplasmic reticulum (ER), ER-G...

Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit [published erratum appears in J Cell Biol 1991 Dec;115(5):following 1473]

Mutations in the sucrase-isomaltase gene can lead to the synthesis of transport-incompetent or functionally altered enzyme in congenital sucrase-isomaltase deficiency (CSID) (Naim, H. Y., J. Roth, E. Sterchi, M. Lentze, P. Milla, J. Schmitz, and H. P. Hauri. J. Clin. Invest. 82:667-679). In this paper we have characterized two novel mutant phenotypes of CSID at the subcellular and protein level...