PMC Links for Gene (Select 7287) - PMC

Select item 80564701.

A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa

DaNae R. Woodard, Chao Xing, Pratyusha Ganne, Hanquan Liang, Avinash Mahindrakar, Chandrasekhar Sankurathri, John D. Hulleman, V. Vinod Mootha

Mol Vis. 2021; 27: 179–190. Published online 2021 Apr 2.

PMCID:: PMC8056470

Abstract Article PDF–4.5M

Select item 49479662.

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

Inayat Ullah, Firoz Kabir, Muhammad Iqbal, Clare Brooks S. Gottsch, Muhammad Asif Naeem, Muhammad Zaman Assir, Shaheen N. Khan, Javed Akram, Sheikh Riazuddin, Radha Ayyagari, J. Fielding Hejtmancik, S. Amer Riazuddin

Mol Vis. 2016; 22: 797–815. Published online 2016 Jul 16.

PMCID:: PMC4947966

Abstract Article PDF–3.4M

Select item 47957793.

Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration

Glenn P. Lobo, Adrian Au, Philip D. Kiser, Stephanie A. Hagstrom

PLoS One. 2016; 11(3): e0151806. Published online 2016 Mar 17. doi: 10.1371/journal.pone.0151806

PMCID:: PMC4795779

Abstract Article PDF–8.8M

Select item 45802134.

TULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones

Samuel G. Jacobson, Artur V. Cideciyan, Wei Chieh Huang, Alexander Sumaroka, Alejandro J. Roman, Sharon B. Schwartz, Xunda Luo, Rebecca Sheplock, Joanna M. Dauber, Malgorzata Swider, Edwin M. Stone

Invest Ophthalmol Vis Sci. 2014 Aug; 55(8): 5354–5364. Published online 2014 Aug 26. doi: 10.1167/iovs.14-14570

PMCID:: PMC4580213

Abstract Article PDF–1.5M

Select item 34638115.

Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families

Muhammad Iqbal, Muhammad Asif Naeem, S. Amer Riazuddin, Shahbaz Ali, Tahir Farooq, Zaheeruddin A. Qazi, Shaheen N. Khan, Tayyab Husnain, Saima Riazuddin, Paul A. Sieving, J. Fielding Hejtmancik, Sheikh Riazuddin

Arch Ophthalmol. Author manuscript; available in PMC 2012 Oct 4.

Published in final edited form as: Arch Ophthalmol. 2011 Oct; 129(10): 1351–1357. doi: 10.1001/archophthalmol.2011.267

PMCID:: PMC3463811

Abstract Article PDF–3.2M

Select item 33651336.

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa

Muhammad Ajmal, Muhammad Imran Khan, Shazia Micheal, Waqas Ahmed, Ashfa Shah, Hanka Venselaar, Habib Bokhari, Aisha Azam, Nadia Khalida Waheed, Rob W.J. Collin, Anneke I. den Hollander, Raheel Qamar, Frans P. M. Cremers

Mol Vis. 2012; 18: 1226–1237. Published online 2012 May 10.

PMCID:: PMC3365133

Abstract Article PDF–1.2M

Select item 23296697.

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family

Anan H. Abbasi, Hanna J. Garzozi, Tamar Ben-Yosef

Mol Vis. 2008; 14: 675–682. Published online 2008 Apr 21.

PMCID:: PMC2329669

Abstract Article PDF–1.0M

Select item 41096268.

Synergistic Interaction of Tubby and Tubby-Like Protein 1 (Tulp1)

Nora Blanca Caberoy

Adv Exp Med Biol. Author manuscript; available in PMC 2014 Jul 24.

Published in final edited form as: Adv Exp Med Biol. 2014; 801: 503–509. doi: 10.1007/978-1-4614-3209-8_64

PMCID:: PMC4109626

Abstract Article PDF–267K

Select item 30264409.

Tubby-like Protein 1 (TULP1) Interacts with F-actin in Photoreceptor Cells

Quansheng Xi, Gayle J. T. Pauer, Alan D. Marmorstein, John W. Crabb, Stephanie A. Hagstrom

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2011 Jan 25.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2005 Dec; 46(12): 4754–4761. doi: 10.1167/iovs.05-0693

PMCID:: PMC3026440

Abstract Article PDF–1.4M

Select item 335141110.

Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa

Chitra Kannabiran, Hardeep Singh, Nishika Sahini, Subhadra Jalali, Gayathri Mohan

Mol Vis. 2012; 18: 1165–1174. Published online 2012 May 4.

PMCID:: PMC3351411

Abstract Article PDF–4.5M

Select item 278947611.

Identification of tubby and tubby-like protein 1 as eat-me signals by phage display

Nora B. Caberoy, Dony Maiguel, Youngbae Kim, Wei Li

Exp Cell Res. Author manuscript; available in PMC 2011 Jan 15.

Published in final edited form as: Exp Cell Res. 2010 Jan 15; 316(2): 245–257. Published online 2009 Oct 22. doi: 10.1016/j.yexcr.2009.10.008

PMCID:: PMC2789476

Abstract Article PDF–1.9M

Select item 2033312.

Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases

Michael A. North, Juergen K. Naggert, Yingzhuo Yan, Konrad Noben-Trauth, Patsy M. Nishina

Proc Natl Acad Sci U S A. 1997 Apr 1; 94(7): 3128–3133. doi: 10.1073/pnas.94.7.3128

PMCID:: PMC20333

Abstract Article PDF–529K

Select item 375693513.

Genome-Wide Association Study Identifies Variants Associated with Progression of Liver Fibrosis from HCV Infection

ETIENNE PATIN, ZOLTÁN KUTALIK, JULIEN GUERGNON, STÉPHANIE BIBERT, BERTRAND NALPAS, EMMANUELLE JOUANGUY, MONA MUNTEANU, LAURENCE BOUSQUET, LAURENT ARGIRO, PHILIPPE HALFON, ANNE BOLAND, BEAT MÜLLHAUPT, DAVID SEMELA, JEAN-FRANÇOIS DUFOUR, MARKUS H. HEIM, DARIUS MORADPOUR, ANDREAS CERNY, RAFFAELE MALINVERNI, HANS HIRSCH, GLADYS MARTINETTI, VIJAYAPRAKASH SUPPIAH, GRAEME STEWART, DAVID R. BOOTH, JACOB GEORGE, JEAN-LAURENT CASANOVA, CHRISTIAN BRÉCHOT, CHARLES M. RICE, ANDREW H. TALAL, IRA M. JACOBSON, MARC BOURLIÈRE, IOANNIS THEODOROU, THIERRY POYNARD, FRANCESCO NEGRO, STANISLAS POL, PIERRE-YVES BOCHUD, LAURENT ABEL

Gastroenterology. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Gastroenterology. 2012 Nov; 143(5): 1244–52.e1-12. Published online 2012 Jul 27. doi: 10.1053/j.gastro.2012.07.097

PMCID:: PMC3756935

Abstract Article PDF–903K

Select item 302064514.

Tubby and tubby-like protein 1 are new MerTK ligands for phagocytosis

Nora B Caberoy, Yixiong Zhou, Wei Li

EMBO J. 2010 Dec 1; 29(23): 3898–3910. Published online 2010 Oct 26. doi: 10.1038/emboj.2010.265

PMCID:: PMC3020645

Abstract Article PDF–2.0M

Select item 180207715.

Mapping of transcription start sites of human retina expressed genes

Valeria Roni, Ronald Carpio, Bernd Wissinger

BMC Genomics. 2007; 8: 42. Published online 2007 Feb 7. doi: 10.1186/1471-2164-8-42

PMCID:: PMC1802077

Abstract Article PDF–578K

Select item 794845216.

A conserved acetylation switch enables pharmacological control of tubby-like protein stability

Evan M. Kerek, Kevin H. Yoon, Shu Y. Luo, Jerry Chen, Robert Valencia, Olivier Julien, Andrew J. Waskiewicz, Basil P. Hubbard

J Biol Chem. 2021 Jan-Jun; 296: 100073. Published online 2020 Nov 23. doi: 10.1074/jbc.RA120.015839

PMCID:: PMC7948452

Abstract Article PDF–3.6M

Select item 486917017.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491