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Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.
Gut. 2023 Dec 13:gutjnl-2023-331370. doi: 10.1136/gutjnl-2023-331370. Online ahead of print.
Gut. 2023.
PMID: 38124012
Free article.
No abstract available.
Interaction between the α-glucosidases, sucrase-isomaltase and maltase-glucoamylase, in human intestinal brush border membranes and its potential impact on disaccharide digestion.
Tannous S, Stellbrinck T, Hoter A, Naim HY.
Tannous S, et al. Among authors: stellbrinck t.
Front Mol Biosci. 2023 Mar 8;10:1160860. doi: 10.3389/fmolb.2023.1160860. eCollection 2023.
Front Mol Biosci. 2023.
PMID: 36968271
Free PMC article.
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Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.
Marten LM, Wanes D, Stellbrinck T, Santer R, Naim HY.
Marten LM, et al. Among authors: stellbrinck t.
Biochim Biophys Acta Mol Basis Dis. 2022 Apr 1;1868(4):166338. doi: 10.1016/j.bbadis.2022.166338. Epub 2022 Jan 8.
Biochim Biophys Acta Mol Basis Dis. 2022.
PMID: 35007711
Free article.
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