BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

343 related articles for article (PubMed ID: 3403721)

  • 1. Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.
    Naim HY; Roth J; Sterchi EE; Lentze M; Milla P; Schmitz J; Hauri HP
    J Clin Invest; 1988 Aug; 82(2):667-79. PubMed ID: 3403721
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A study of the molecular pathology of sucrase-isomaltase deficiency. A defect in the intracellular processing of the enzyme.
    Lloyd ML; Olsen WA
    N Engl J Med; 1987 Feb; 316(8):438-42. PubMed ID: 3807985
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit.
    Fransen JA; Hauri HP; Ginsel LA; Naim HY
    J Cell Biol; 1991 Oct; 115(1):45-57. PubMed ID: 1717481
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
    Alfalah M; Keiser M; Leeb T; Zimmer KP; Naim HY
    Gastroenterology; 2009 Mar; 136(3):883-92. PubMed ID: 19121318
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
    Jacob R; Zimmer KP; Schmitz J; Naim HY
    J Clin Invest; 2000 Jul; 106(2):281-7. PubMed ID: 10903344
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency.
    Harms HK; Bertele-Harms RM; Bruer-Kleis D
    N Engl J Med; 1987 May; 316(21):1306-9. PubMed ID: 3553946
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Subcellular fractionation studies of the intestinal mucosa in congenital sucrase--isomaltase deficiency.
    Cooper BT; Candy DC; Harries JT; Peters TJ
    Clin Sci (Lond); 1979 Aug; 57(2):181-5. PubMed ID: 383373
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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.
    Ouwendijk J; Moolenaar CE; Peters WJ; Hollenberg CP; Ginsel LA; Fransen JA; Naim HY
    J Clin Invest; 1996 Feb; 97(3):633-41. PubMed ID: 8609217
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency.
    Hauri HP; Roth J; Sterchi EE; Lentze MJ
    Proc Natl Acad Sci U S A; 1985 Jul; 82(13):4423-7. PubMed ID: 3925457
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Biosynthesis of intestinal microvillar proteins. The intracellular transport of aminopeptidase N and sucrase-isomaltase occurs at different rates pre-Golgi but at the same rate post-Golgi.
    Danielsen EM; Cowell GM
    FEBS Lett; 1985 Oct; 190(1):69-72. PubMed ID: 2864287
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The brush border membrane in hereditary sucrase-isomaltase deficiency: abnormal protein pattern and presence of immunoreactive enzyme.
    Freiburghaus AU; Dubs R; Hadorn B; Gaze H; Hauri HP; Gitzelmann R
    Eur J Clin Invest; 1977 Oct; 7(5):455-9. PubMed ID: 411677
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A phenylalanine-based folding determinant in intestinal sucrase-isomaltase that functions in the context of a quality control mechanism beyond the endoplasmic reticulum.
    Pröpsting MJ; Kanapin H; Jacob R; Naim HY
    J Cell Sci; 2005 Jun; 118(Pt 12):2775-84. PubMed ID: 15944403
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Reversible forskolin-induced impairment of sucrase-isomaltase mRNA levels, biosynthesis, and transport to the brush border membrane in Caco-2 cells.
    Rousset M; Chantret I; Darmoul D; Trugnan G; Sapin C; Green F; Swallow D; Zweibaum A
    J Cell Physiol; 1989 Dec; 141(3):627-35. PubMed ID: 2592430
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sucrase-isomaltase and cystic fibrosis.
    Sips HJ; Claass AH; van Dongen JM; Willemsen R; Hoogeveen AT; Galjaard H; Sinaasappel M; Hauri HP; Sterchi EE
    J Inherit Metab Dis; 1985; 8(4):163-8. PubMed ID: 2431220
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Immuno-electronmicroscopical localization of a microvillus membrane disaccharidase in the human small-intestinal epithelium with monoclonal antibodies.
    Fransen JA; Ginsel LA; Hauri HP; Sterchi E; Blok J
    Eur J Cell Biol; 1985 Jul; 38(1):6-15. PubMed ID: 3896809
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Peripheral gangrene in a congenital sucrase isomaltase deficiency (author's transl)].
    Méndez Aparicio FM
    An Esp Pediatr; 1980 Aug; 13(8):720-5. PubMed ID: 7436153
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Congenital saccharase-isomaltase defect--diagnostic difficulties].
    Kovács JB; Lörincz M; Sashegyi J; Marton A; Simon K
    Orv Hetil; 1989 Nov; 130(48):2577-82. PubMed ID: 2513545
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dissection of the asynchronous transport of intestinal microvillar hydrolases to the cell surface.
    Stieger B; Matter K; Baur B; Bucher K; Höchli M; Hauri HP
    J Cell Biol; 1988 Jun; 106(6):1853-61. PubMed ID: 2898478
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
    Sander P; Alfalah M; Keiser M; Korponay-Szabo I; Kovács JB; Leeb T; Naim HY
    Hum Mutat; 2006 Jan; 27(1):119. PubMed ID: 16329100
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The intestinal brush border membrane in diabetes. Studies of sucrase-isomaltase metabolism in rats with streptozotocin diabetes.
    Olsen WA; Korsmo H
    J Clin Invest; 1977 Jul; 60(1):181-8. PubMed ID: 141462
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.