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 (Q39759795)

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English	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	scientific article

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

congenital disorder

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author name string

Ouwendijk J

1

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Europe PubMed Central

PMC publication ID

14 September 2017

Moolenaar CE

2

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PMC publication ID

14 September 2017

Peters WJ

3

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Europe PubMed Central

PMC publication ID

14 September 2017

Hollenberg CP

4

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Europe PubMed Central

PMC publication ID

14 September 2017

Ginsel LA

5

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Europe PubMed Central

PMC publication ID

14 September 2017

Fransen JA

6

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14 September 2017

Naim HY

7

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14 September 2017

language of work or name

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publication date

1 February 1996

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14 September 2017

Journal of Clinical Investigation

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14 September 2017

97

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PMC publication ID

14 September 2017

3

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Europe PubMed Central

PMC publication ID

14 September 2017

633-641

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Europe PubMed Central

PMC publication ID

14 September 2017

Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus

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Effects of the delta F508 mutation on the structure, function, and folding of the first nucleotide-binding domain of CFTR.

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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Expression and intracellular transport of microvillus membrane hydrolases in human intestinal epithelial cells

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The sucrase-isomaltase complex: primary structure, membrane-orientation, and evolution of a stalked, intrinsic brush border protein

1 reference

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Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme

1 reference

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Biosynthesis of the human sucrase-isomaltase complex. Differential O-glycosylation of the sucrase subunit correlates with its position within the enzyme complex

1 reference

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Biosynthetic protein transport and sorting by the endoplasmic reticulum and Golgi

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Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex

1 reference

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Biogenesis and intracellular transport of intestinal brush border membrane hydrolases. Use of antibody probes and tissue culture

1 reference

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Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3.

1 reference

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The trans Golgi network: sorting at the exit site of the Golgi complex.

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Protein folding and intracellular transport: evaluation of conformational changes in nascent exocytotic proteins.

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Control of protein exit from the endoplasmic reticulum

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Striking structural and functional similarities suggest that intestinal sucrase-isomaltase, human lysosomal α-glucosidase and Schwanniomyces occidentalis glucoamylase are derived from a common ancestral gene

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Molecular dissection of the secretory pathway

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Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit

1 reference

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Biogenesis of intestinal plasma membrane: Posttranslational route and cleavage of sucrase—isomaltase

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Protein trafficking along the exocytotic pathway.

1 reference

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Molecular cloning and characterization of a rat intestinal sucrase-isomaltase cDNA. Regulation of sucrase-isomaltase gene expression by sucrose feeding.

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Expression of sucrase-isomaltase and dipeptidylpeptidase IV in human small intestine and colon.

1 reference

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Intracellular transport and conformational maturation of intestinal brush border hydrolases

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1 reference

https://pubmed.ncbi.nlm.nih.gov/8609217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular protein trafficking defects in human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8609217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immuno-electronmicroscopical localization of a microvillus membrane disaccharidase in the human small-intestinal epithelium with monoclonal antibodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8609217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A study of the molecular pathology of sucrase-isomaltase deficiency. A defect in the intracellular processing of the enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/8609217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assay of intestinal disaccharidases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8609217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

1 reference

https://pubmed.ncbi.nlm.nih.gov/8609217

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI118459

1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

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