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Lostao MP, Loo DD, Hernell O, et al. The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree. Function (Oxf). 2021;2(5):zqab040doi: 10.1093/function/zqab040.
Lostao, M. P., Loo, D. D., Hernell, O., Meeuwisse, G., Martin, M. G., & Wright, E. M. (2021). The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree. Function (Oxford, England), 2(5), zqab040. https://doi.org/10.1093/function/zqab040
Lostao, M Pilar, et al. "The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree." Function (Oxford, England) vol. 2,5 (2021): zqab040. doi: https://doi.org/10.1093/function/zqab040
Lostao MP, Loo DD, Hernell O, Meeuwisse G, Martin MG, Wright EM. The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree. Function (Oxf). 2021 Aug 17;2(5):zqab040. doi: 10.1093/function/zqab040. eCollection 2021. PMID: 34485913; PMCID: PMC8410129.
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Function (Oxf). 2021 Aug 17;2(5):zqab040. doi: 10.1093/function/zqab040. eCollection 2021.

The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree.

Function (Oxford, England)

M Pilar Lostao, Donald D Loo, Olle Hernell, Gunnar Meeuwisse, Martin G Martin, Ernest M Wright

Affiliations

  1. Departments of Physiology and Pediatrics, The David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1751, USA.
  2. Department of Physiology, The Geffen School of Medicine, UCLA, USA.

PMID: 34485913 PMCID: PMC8410129 DOI: 10.1093/function/zqab040

Abstract

Glucose-galactose malabsorption (GGM) is due to mutations in the gene coding for the intestinal sodium glucose cotransporter SGLT1 (SLC5A1). Here we identify the rare variant Gln457Arg (Q457R) in a large pedigree of patients in the Västerbotten County in Northern Sweden with the clinical phenotype of GGM. The functional effect of the Q457R mutation was determined in protein expressed in

© The Author(s) 2021. Published by Oxford University Press on behalf of American Physiological Society.

Keywords: GGM mutation SGLT1 structure; SGLT1; glucose-galactose malabsorption Swedish GGM pedigree; sodium glucose cotransporter

References

  1. J Membr Biol. 1994 Nov;142(2):161-70 - PubMed
  2. Nature. 2020 May;581(7809):434-443 - PubMed
  3. Gastroenterology. 2018 Jun;154(8):2045-2059.e6 - PubMed
  4. Gastroenterology. 1997 Apr;112(4):1206-12 - PubMed
  5. J Histochem Cytochem. 1991 Mar;39(3):287-98 - PubMed
  6. Physiol Rev. 2011 Apr;91(2):733-94 - PubMed
  7. Nat Genet. 1996 Feb;12(2):216-20 - PubMed
  8. J Membr Biol. 1995 Nov;148(1):65-78 - PubMed
  9. N Engl J Med. 2006 Jul 20;355(3):270-80 - PubMed
  10. Am J Physiol Cell Physiol. 2012 May 1;302(9):C1293-305 - PubMed
  11. Acta Paediatr. 1962 Nov;51:674-85 - PubMed
  12. Proc Natl Acad Sci U S A. 1998 Sep 15;95(19):11235-40 - PubMed
  13. Acta Paediatr Scand. 1969;:Suppl 188:19+ - PubMed
  14. Nature. 1987 Nov 26-Dec 2;330(6146):379-81 - PubMed
  15. Biochim Biophys Acta. 1992 Jan 10;1103(1):37-44 - PubMed
  16. Biochim Biophys Acta. 1999 Feb 24;1453(2):297-303 - PubMed
  17. FEBS Lett. 1995 Dec 18;377(2):181-4 - PubMed
  18. Acta Paediatr Scand. 1969;:Suppl 188:1+ - PubMed
  19. Nat Commun. 2018 Dec 7;9(1):5245 - PubMed
  20. Pflugers Arch. 1991 Mar;418(1-2):79-85 - PubMed
  21. Nature. 1991 Mar 28;350(6316):354-6 - PubMed
  22. Nat Genet. 2011 May;43(5):491-8 - PubMed
  23. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5767-71 - PubMed
  24. PLoS One. 2019 Mar 27;14(3):e0213350 - PubMed
  25. Eur J Hum Genet. 2017 Nov;25(11):1253-1260 - PubMed
  26. Nat Genet. 2008 Oct;40(10):1163-5 - PubMed
  27. J Membr Biol. 1992 Jan;125(1):49-62 - PubMed
  28. Proc Natl Acad Sci U S A. 1989 Aug;86(15):5748-52 - PubMed
  29. Biophys J. 1996 Nov;71(5):2544-52 - PubMed
  30. J Membr Biol. 1992 Jan;125(1):63-79 - PubMed
  31. J Biol Chem. 2001 Dec 28;276(52):49188-94 - PubMed
  32. Science. 2008 Aug 8;321(5890):810-4 - PubMed
  33. Biophys J. 2009 Jan;96(2):748-60 - PubMed

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