PMC Links for Gene (Select 6476) - PMC

Select item 109582631.

Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients

Andreea Zamfir-Taranu, Britt-Sabina Löscher, Diab M. Husein, Abdullah Hoter, Koldo Garcia-Etxebarria, Usune Etxeberria, Lucía Gayoso, Gabriele Mayr, Clara Nilholm, Rita J. Gustafsson, Oliver Ozaydin, Tenghao Zheng, Cristina Esteban-Blanco, Isotta Bozzarelli, Ferdinando Bonfiglio, Sandra Rizk, Andre Franke, Luis Bujanda, Hassan Y. Naim, Bodil Ohlsson, Mauro D'Amato

Gut. 2024 Apr; 73(4): 706–708. Published online 2023 Mar 6. doi: 10.1136/gutjnl-2023-329695

PMCID:: PMC10958263

Article PDF–513K

Select item 81768892.

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization

Yael Haberman, Ayelet Di Segni, Nurit Loberman-Nachum, Ortal Barel, Vered Kunik, Eran Eyal, Nitzan Kol, Goni Hout-Siloni, Brigitte Kochavi, Camila Avivi, Michael Schvimer, Gideon Rechavi, Yair Anikster, Iris Barshack, Batia Weiss

J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2021 Jun 4.

Published in final edited form as: J Pediatr Gastroenterol Nutr. 2017 May; 64(5): 770–776. doi: 10.1097/MPG.0000000000001424

PMCID:: PMC8176889

Abstract Article PDF–1.7M

Select item 61039083.

Increased Prevalence of Rare Sucrase-isomaltase (SI) Pathogenic Variants in Irritable Bowel Syndrome Patients

Koldo Garcia-Etxebarria, Tenghao Zheng, Ferdinando Bonfiglio, Luis Bujanda, Aldona Dlugosz, Greger Lindberg, Peter T. Schmidt, Pontus Karling, Bodil Ohlsson, Magnus Simren, Susanna Walter, Gerardo Nardone, Rosario Cuomo, Paolo Usai-Satta, Francesca Galeazzi, Matteo Neri, Piero Portincasa, Massimo Bellini, Giovanni Barbara, Daisy Jonkers, Shanti Eswaran, William D. Chey, Purna Kashyap, Lin Chang, Emeran A. Mayer, Mira M. Wouters, Guy Boeckxstaens, Michael Camilleri, Andre Franke, Mauro D’Amato

Clin Gastroenterol Hepatol. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Clin Gastroenterol Hepatol. 2018 Oct; 16(10): 1673–1676. Published online 2018 Feb 21. doi: 10.1016/j.cgh.2018.01.047

PMCID:: PMC6103908

Article PDF–305K

Select item 43121484.

Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

Julien L. Marcadier, Margaret Boland, C. Ronald Scott, Kheirie Issa, Zaining Wu, Adam D. McIntyre, Robert A. Hegele, Michael T. Geraghty, Matthew A. Lines

CMAJ. 2015 Feb 3; 187(2): 102–107. doi: 10.1503/cmaj.140657

PMCID:: PMC4312148

Abstract Article PDF–583K

Select item 22899145.

Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit [published erratum appears in J Cell Biol 1991 Dec;115(5):following 1473]

J Cell Biol. 1991 Oct 1; 115(1): 45–57. doi: 10.1083/jcb.115.1.45

PMCID:: PMC2289914

Summary PDF–2.5M

Select item 11328826.

Sequence of the complete cDNA and the 5' structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase.

I Chantret, M Lacasa, G Chevalier, J Ruf, I Islam, N Mantei, Y Edwards, D Swallow, M Rousset

Biochem J. 1992 Aug 1; 285(Pt 3): 915–923. doi: 10.1042/bj2850915

PMCID:: PMC1132882

Summary Page Browse PDF–1.7M

Select item 5070987.

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.

J Ouwendijk, C E Moolenaar, W J Peters, C P Hollenberg, L A Ginsel, J A Fransen, H Y Naim

J Clin Invest. 1996 Feb 1; 97(3): 633–641. doi: 10.1172/JCI118459

PMCID:: PMC507098

Summary PDF–653K

Select item 3911138.

Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency.

H P Hauri, J Roth, E E Sterchi, M J Lentze

Proc Natl Acad Sci U S A. 1985 Jul; 82(13): 4423–4427. doi: 10.1073/pnas.82.13.4423

PMCID:: PMC391113

Summary Page Browse PDF–1.9M

Select item 3143119.

Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme

Ralf Jacob, Klaus-Peter Zimmer, Jacques Schmitz, Hassan Y. Naim

J Clin Invest. 2000 Jul 15; 106(2): 281–287. doi: 10.1172/JCI9677

PMCID:: PMC314311

Abstract Article PDF–423K

Select item 1003060910.

Interaction between the α-glucosidases, sucrase-isomaltase and maltase-glucoamylase, in human intestinal brush border membranes and its potential impact on disaccharide digestion

Stephanie Tannous, Tammy Stellbrinck, Abdullah Hoter, Hassan Y. Naim

Front Mol Biosci. 2023; 10: 1160860. Published online 2023 Mar 8. doi: 10.3389/fmolb.2023.1160860

PMCID:: PMC10030609

Abstract Article PDF–1.7M

Select item 287854011.

Structural Basis for Substrate Selectivity in Human Maltase-Glucoamylase and Sucrase-Isomaltase N-terminal Domains

Lyann Sim, Carly Willemsma, Sankar Mohan, Hassan Y. Naim, B. Mario Pinto, David R. Rose

J Biol Chem. 2010 Jun 4; 285(23): 17763–17770. Published online 2010 Mar 31. doi: 10.1074/jbc.M109.078980

PMCID:: PMC2878540

Abstract Article PDF–1.5M

Select item 298837312.

Core2 O-Glycan Structure Is Essential for the Cell Surface Expression of Sucrase Isomaltase and Dipeptidyl Peptidase-IV during Intestinal Cell Differentiation

Seung Ho Lee, Shin-Yi Yu, Jun Nakayama, Kai-Hooi Khoo, Erica L. Stone, Michiko N. Fukuda, Jamey D. Marth, Minoru Fukuda

J Biol Chem. 2010 Nov 26; 285(48): 37683–37692. Published online 2010 Sep 14. doi: 10.1074/jbc.M110.162735

PMCID:: PMC2988373

Abstract Article PDF–2.9M

Select item 537173013.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 377350514.

In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine

Simona Principe, E. Ellen Jones, Yunee Kim, Ankit Sinha, Julius O. Nyalwidhe, Jasmin Brooks, O. John Semmes, Dean A. Troyer, Raymond S. Lance, Thomas Kislinger, Richard R. Drake

Proteomics. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Proteomics. 2013 May; 13(0): 1667–1671. Published online 2013 Apr 23. doi: 10.1002/pmic.201200561

PMCID:: PMC3773505

Abstract Article PDF–630K

Select item 616668215.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 135612916.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 13924117.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805918.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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