Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant
Sucrase isomaltase (SI) is the most prominent disaccharidase in the small intestine. Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder caused by variants in the SI gene. A homozygous frameshift mutation, c.273_274delAG (p.Gly92Leufs*8), has been identified in CSID in...
Published in: | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease |
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fttihohannover:oai:elib.tiho-hannover.de:tiho_mods_00010634 2024-05-19T07:41:30+00:00 Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant Tannous, Stephanie Naim, Hassan Y. 2024 https://doi.org/10.1016/j.bbadis.2023.166947 https://elib.tiho-hannover.de/receive/tiho_mods_00010634 https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00002638/1-s2.0-S0925443923003137-main.pdf https://www.sciencedirect.com/science/article/pii/S0925443923003137 eng eng Biochimica et biophysica acta / Molecular basis of disease -- Biochim Biophys Acta Mol Basis Dis -- 2209528-7 -- 1879-260X -- 0925-4439 -- https://www.sciencedirect.com/journal/biochimica-et-biophysica-acta-bba-molecular-basis-of-disease -- https://ezb.uni-regensburg.de/ezeit/detail.phtml?bibid=TIHO&colors=7&lang=de&jour_id=2930 https://doi.org/10.1016/j.bbadis.2023.166947 https://elib.tiho-hannover.de/receive/tiho_mods_00010634 https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00002638/1-s2.0-S0925443923003137-main.pdf https://www.sciencedirect.com/science/article/pii/S0925443923003137 https://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess article Verzeichnis wissenschaftlicher Veröffentlichungen Hochschulbibliographie allgemein ddc:630 2024 Intestine Small Cell Membrane Sucrase-Isomaltase Complex Homozygote Protein-protein interaction Protein Trafficking O-glycosylation Enzyme Function Sucrase-isomaltase Congenital Sucrase-isomaltase Deficiency Greenlandic Population article Text doc-type:article 2024 fttihohannover https://doi.org/10.1016/j.bbadis.2023.166947 2024-04-19T02:30:19Z Sucrase isomaltase (SI) is the most prominent disaccharidase in the small intestine. Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder caused by variants in the SI gene. A homozygous frameshift mutation, c.273_274delAG (p.Gly92Leufs*8), has been identified in CSID in the Greenlandic population. This variant eliminates the luminal domain of SI and results in loss of its digestive function. Surprisingly, the truncated mutant is transport-competent and localized at the cell surface; it interacts avidly with wild type SI and negatively impacts its enzymatic function. The data propose that heterozygote carriers of p.Gly92Leufs*8 may also present with CSID symptoms. Article in Journal/Newspaper greenlandic TiHo eLib (University of Veterinary Medicine Hannover) Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1870 2 166947 |
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TiHo eLib (University of Veterinary Medicine Hannover) |
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fttihohannover |
language |
English |
topic |
article Verzeichnis wissenschaftlicher Veröffentlichungen Hochschulbibliographie allgemein ddc:630 2024 Intestine Small Cell Membrane Sucrase-Isomaltase Complex Homozygote Protein-protein interaction Protein Trafficking O-glycosylation Enzyme Function Sucrase-isomaltase Congenital Sucrase-isomaltase Deficiency Greenlandic Population |
spellingShingle |
article Verzeichnis wissenschaftlicher Veröffentlichungen Hochschulbibliographie allgemein ddc:630 2024 Intestine Small Cell Membrane Sucrase-Isomaltase Complex Homozygote Protein-protein interaction Protein Trafficking O-glycosylation Enzyme Function Sucrase-isomaltase Congenital Sucrase-isomaltase Deficiency Greenlandic Population Tannous, Stephanie Naim, Hassan Y. Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant |
topic_facet |
article Verzeichnis wissenschaftlicher Veröffentlichungen Hochschulbibliographie allgemein ddc:630 2024 Intestine Small Cell Membrane Sucrase-Isomaltase Complex Homozygote Protein-protein interaction Protein Trafficking O-glycosylation Enzyme Function Sucrase-isomaltase Congenital Sucrase-isomaltase Deficiency Greenlandic Population |
description |
Sucrase isomaltase (SI) is the most prominent disaccharidase in the small intestine. Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder caused by variants in the SI gene. A homozygous frameshift mutation, c.273_274delAG (p.Gly92Leufs*8), has been identified in CSID in the Greenlandic population. This variant eliminates the luminal domain of SI and results in loss of its digestive function. Surprisingly, the truncated mutant is transport-competent and localized at the cell surface; it interacts avidly with wild type SI and negatively impacts its enzymatic function. The data propose that heterozygote carriers of p.Gly92Leufs*8 may also present with CSID symptoms. |
format |
Article in Journal/Newspaper |
author |
Tannous, Stephanie Naim, Hassan Y. |
author_facet |
Tannous, Stephanie Naim, Hassan Y. |
author_sort |
Tannous, Stephanie |
title |
Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant |
title_short |
Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant |
title_full |
Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant |
title_fullStr |
Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant |
title_full_unstemmed |
Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant |
title_sort |
impaired digestive function of sucrase-isomaltase in a complex with the greenlandic sucrase-isomaltase variant |
publishDate |
2024 |
url |
https://doi.org/10.1016/j.bbadis.2023.166947 https://elib.tiho-hannover.de/receive/tiho_mods_00010634 https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00002638/1-s2.0-S0925443923003137-main.pdf https://www.sciencedirect.com/science/article/pii/S0925443923003137 |
genre |
greenlandic |
genre_facet |
greenlandic |
op_relation |
Biochimica et biophysica acta / Molecular basis of disease -- Biochim Biophys Acta Mol Basis Dis -- 2209528-7 -- 1879-260X -- 0925-4439 -- https://www.sciencedirect.com/journal/biochimica-et-biophysica-acta-bba-molecular-basis-of-disease -- https://ezb.uni-regensburg.de/ezeit/detail.phtml?bibid=TIHO&colors=7&lang=de&jour_id=2930 https://doi.org/10.1016/j.bbadis.2023.166947 https://elib.tiho-hannover.de/receive/tiho_mods_00010634 https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00002638/1-s2.0-S0925443923003137-main.pdf https://www.sciencedirect.com/science/article/pii/S0925443923003137 |
op_rights |
https://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.1016/j.bbadis.2023.166947 |
container_title |
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease |
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1870 |
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2 |
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166947 |
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