PMC Links for GEO Profiles (Select 116423352) - 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 79484522.

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 49479663.

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 48691704.

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

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 47957795.

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 45802136.

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 41096267.

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 37569358.

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 34638119.

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 336513310.

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.