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Items: 20

1.
CASE REPORT: MYO5B Mutation Causes PFIC-like Cholestasis, Intermittent Diarrhea and Vomiting in a Post Liver Transplant Patient without Microvillus Inclusion Disease
Chaowapong Jarasvaraparn, Mai He, Jorge L Granadillo, Sakil Kulkarni, Janis Stoll, Kim Liss
J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2023 Nov 8.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2021 Jan 1; 72(1): e22–e24. doi: 10.1097/MPG.0000000000002792
PMCID:
PMC10631244
AbstractArticlePDF–807K
2.
Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease
Meri Kalashyan, Krishnan Raghunathan, Haley Oller, Marie-Theres Bayer, Lissette Jimenez, Joseph T. Roland, Elena Kolobova, Susan J. Hagen, Jeffrey D. Goldsmith, Mitchell D. Shub, James R. Goldenring, Izumi Kaji, Jay R. Thiagarajah
J Clin Invest. 2023 Oct 16; 133(20): e169234. Published online 2023 Oct 16. doi: 10.1172/JCI169234
PMCID:
PMC10575727
AbstractArticlePDF–15M
3.
A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy
Qinghong Li, Zhe Zhou, Yue Sun, Chang Sun, Karin Klappe, Sven C.D. van IJzendoorn
Cell Mol Gastroenterol Hepatol. 2022; 14(2): 295–310. Published online 2022 Apr 11. doi: 10.1016/j.jcmgh.2022.04.006
PMCID:
PMC9218578
AbstractArticlePDF–9.2M
4.
UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking
Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Céline Revenu des Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Grégoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato
J Clin Invest. 2022 May 16; 132(10): e154997. Published online 2022 May 16. doi: 10.1172/JCI154997
PMCID:
PMC9106349
AbstractArticlePDF–22M
5.
Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry
Kamal Hassan, Amal Robay, Aljazi Al-Maraghi, Nuha Nimeri, Asmaa Basheer Azzam, Alya Al Shakaki, Eman Hamid, Ronald G. Crystal, Khalid A. Fakhro
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006103. doi: 10.1101/mcs.a006103
PMCID:
PMC8958910
AbstractArticlePDF–1.6M
6.
Recruitment of Polarity Complexes and Tight Junction Proteins to the Site of Apical Bulk Endocytosis
Amy C. Engevik, Evan S. Krystofiak, Izumi Kaji, Anne R. Meyer, Victoria G. Weis, Anna Goldstein, Alexander W. Coutts, Tamene Melkamu, Milena Saqui-Salces, James R. Goldenring
Cell Mol Gastroenterol Hepatol. 2021; 12(1): 59–80. Published online 2021 Feb 3. doi: 10.1016/j.jcmgh.2021.01.022
PMCID:
PMC8082271
AbstractArticlePDF–9.1M
7.
Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects
Radia Forteza, M. Kaimul Ahsan, Fernando Cartón-García, Diego Arango, Nadia A. Ameen, Pedro J. Salas
Mol Biol Cell. 2019 Dec 15; 30(26): 3076–3089. doi: 10.1091/mbc.E18-07-0415
PMCID:
PMC6938243
AbstractArticlePDF–2.8M
8.
Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells
Maaike Schillemans, Ellie Karampini, Bart L. van den Eshof, Anastasia Gangaev, Menno Hofman, Dorothee van Breevoort, Henriët Meems, Hans Janssen, Aat A. Mulder, Carolina R. Jost, Johanna C. Escher, Rüdiger Adam, Tom Carter, Abraham J. Koster, Maartje van den Biggelaar, Jan Voorberg, Ruben Bierings
Arterioscler Thromb Vasc Biol. 2018 Jul; 38(7): 1549–1561. Published online 2018 Apr 5. doi: 10.1161/ATVBAHA.117.310701
PMCID:
PMC6039413
AbstractArticlePDF–2.8M
9.
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update
Herschel S. Dhekne, Olena Pylypenko, Arend W. Overeem, Rosaria J. Ferreira, K. Joeri van der Velde, Edmond H.H.M. Rings, Carsten Posovszky, Morris A. Swertz, Anne Houdusse, Sven C.D. van IJzendoorn
Hum Mutat. 2018 Mar; 39(3): 333–344. Published online 2018 Jan 17. doi: 10.1002/humu.23386
Correction in:
Hum Mutat. 2018 Oct; 39(10): 1468.
PMCID:
PMC5838515
AbstractArticlePDF–2.0M
10.
Apical membrane alterations in non-intestinal organs in Microvillus Inclusion Disease
Cameron Schlegel, Victoria G. Weis, Byron C. Knowles, Lynne A. Lapierre, Martin G. Martin, Paul Dickman, James R. Goldenring, Mitchell D. Shub
Dig Dis Sci. Author manuscript; available in PMC 2019 Feb 1.
Published in final edited form as: Dig Dis Sci. 2018 Feb; 63(2): 356–365. Published online 2017 Dec 7. doi: 10.1007/s10620-017-4867-5
PMCID:
PMC5797493
AbstractArticlePDF–1.0M
11.
Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with Microvillus Inclusion Disease
Georg F. Vogel, Andreas R. Janecke, Iris M. Krainer, Karin Gutleben, Barbara Witting, Sally G. Mitton, Sahar Mansour, Antje Ballauff, Joseph T. Roland, Amy C. Engevik, Ernest Cutz, Thomas Müller, James R. Goldenring, Lukas A. Huber, Michael W. Hess
Traffic. Author manuscript; available in PMC 2018 Jul 1.
Published in final edited form as: Traffic. 2017 Jul; 18(7): 453–464. Published online 2017 May 17. doi: 10.1111/tra.12486
PMCID:
PMC5693299
AbstractArticlePDF–1.5M
12.
Concise Review: The Potential Use of Intestinal Stem Cells to Treat Patients with Intestinal Failure
Sung Noh Hong, James C.Y. Dunn, Matthias Stelzner, Martín G. Martín
Stem Cells Transl Med. 2017 Feb; 6(2): 666–676. Published online 2016 Sep 16. doi: 10.5966/sctm.2016-0153
PMCID:
PMC5442796
AbstractArticlePDF–1.5M
13.
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis
Yi‐Ling Qiu, Jing‐Yu Gong, Jia‐Yan Feng, Ren‐Xue Wang, Jun Han, Teng Liu, Yi Lu, Li‐Ting Li, Mei‐Hong Zhang, Jonathan A. Sheps, Neng‐Li Wang, Yan‐Yan Yan, Jia‐Qi Li, Lian Chen, Christoph H. Borchers, Bence Sipos, A.S. Knisely, Victor Ling, Qing‐He Xing, Jian‐She Wang
Hepatology. 2017 May; 65(5): 1655–1669. Published online 2017 Mar 23. doi: 10.1002/hep.29020
Correction in:
Hepatology. 2017 Nov; 66(5): 1708–1709.
PMCID:
PMC5413810
AbstractArticlePDF–910K
14.
Identification of intestinal ion transport defects in microvillus inclusion disease
Dmitri V. Kravtsov, Md Kaimul Ahsan, Vandana Kumari, Sven C. D. van Ijzendoorn, Miguel Reyes-Mugica, Anoop Kumar, Tarunmeet Gujral, Pradeep K. Dudeja, Nadia A. Ameen
Am J Physiol Gastrointest Liver Physiol. 2016 Jul 1; 311(1): G142–G155. Published online 2016 May 26. doi: 10.1152/ajpgi.00041.2016
PMCID:
PMC4967175
AbstractArticle
15.
Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency
Wen-I Lee, Jing-Long Huang, Chien-Chang Chen, Ju-Li Lin, Ren-Chin Wu, Tang-Her Jaing, Liang-Shiou Ou
Medicine (Baltimore) 2016 Mar; 95(9): e2918. Published online 2016 Mar 7. doi: 10.1097/MD.0000000000002918
PMCID:
PMC4782876
AbstractArticlePDF–745K
16.
Myo5b knockout mice as a model of microvillus inclusion disease
Fernando Cartón-García, Arend W. Overeem, Rocio Nieto, Sarah Bazzocco, Higinio Dopeso, Irati Macaya, Josipa Bilic, Stefania Landolfi, Javier Hernandez-Losa, Simo Schwartz, Santiago Ramon y Cajal, Sven C. D. van Ijzendoorn, Diego Arango
Sci Rep. 2015; 5: 12312. Published online 2015 Jul 23. doi: 10.1038/srep12312
PMCID:
PMC4511872
AbstractArticlePDF–2.5M
17.
Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment
Dmitri Kravtsov, Anastasia Mashukova, Radia Forteza, Maria M. Rodriguez, Nadia A. Ameen, Pedro J. Salas
Am J Physiol Gastrointest Liver Physiol. 2014 Nov 15; 307(10): G992–G1001. Published online 2014 Sep 25. doi: 10.1152/ajpgi.00180.2014
PMCID:
PMC4233287
AbstractArticle
18.
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease
Byron C. Knowles, Joseph T. Roland, Moorthy Krishnan, Matthew J. Tyska, Lynne A. Lapierre, Paul S. Dickman, James R. Goldenring, Mitchell D. Shub
J Clin Invest. 2014 Jul 1; 124(7): 2947–2962. Published online 2014 Jun 2. doi: 10.1172/JCI71651
PMCID:
PMC4071383
AbstractArticlePDF–10M
19.
Structural basis of cargo recognitions for class V myosins
Zhiyi Wei, Xiaotian Liu, Cong Yu, Mingjie Zhang
Proc Natl Acad Sci U S A. 2013 Jul 9; 110(28): 11314–11319. Published online 2013 Jun 24. doi: 10.1073/pnas.1306768110
PMCID:
PMC3710815
AbstractArticlePDF–1.2M
20.
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease
Agata M. Szperl, Magdalena R. Golachowska, Marcel Bruinenberg, Rytis Prekeris, Andy-Mark W. H. Thunnissen, Arend Karrenbeld, Gerard Dijkstra, Dick Hoekstra, David Mercer, Janusz Ksiazyk, Cisca Wijmenga, Martin C. Wapenaar, Edmond H. H. M. Rings, Sven C. D. van IJzendoorn
J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2012 Mar 1.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2011 Mar; 52(3): 307–313. doi: 10.1097/MPG.0b013e3181eea177
PMCID:
PMC3058815
AbstractArticlePDF–1.4M

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