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Select item 111576921.

Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia

Hajrah Sarkar, Dhani Tracey-White, Ahmed M. Hagag, Thomas Burgoyne, Neelima Nair, Lasse D. Jensen, Malia M. Edwards, Mariya Moosajee

Biochim Biophys Acta Mol Basis Dis. 2024 Feb; 1870(2): 166963. doi: 10.1016/j.bbadis.2023.166963

PMCID:: PMC11157692

Abstract Article PDF–9.1M

Select item 102374222.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 98981183.

Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE

Toshiro Iwagawa, Hiroki Masumoto, Hitoshi Tabuchi, Kenzaburo Tani, Bruce R. Conklin, Sumiko Watanabe

J Gene Med. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: J Gene Med. 2023 Feb; 25(2): e3464. Published online 2022 Dec 4. doi: 10.1002/jgm.3464

PMCID:: PMC9898118

Abstract Article PDF–1.8M

Select item 92792854.

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery

Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili

Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z

PMCID:: PMC9279285

Abstract Article PDF–2.5M

Select item 91197365.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 90375546.

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy

Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell

Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116

PMCID:: PMC9037554

Abstract Article PDF–4.1M

Select item 83920587.

Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription

Tiziana Fioretti, Valentina Di Iorio, Barbara Lombardo, Francesca De Falco, Armando Cevenini, Fabio Cattaneo, Francesco Testa, Lucio Pastore, Francesca Simonelli, Gabriella Esposito

Genes (Basel) 2021 Aug; 12(8): 1111. Published online 2021 Jul 22. doi: 10.3390/genes12081111

PMCID:: PMC8392058

Abstract Article PDF–1.6M

Select item 82623148.

REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia

Dulce Lima Cunha, Rose Richardson, Dhani Tracey-White, Alessandro Abbouda, Andreas Mitsios, Verena Horneffer-van der Sluis, Panteleimon Takis, Nicholas Owen, Jane Skinner, Ailsa A. Welch, Mariya Moosajee

JCI Insight. 2021 May 10; 6(9): e146934. Published online 2021 May 10. doi: 10.1172/jci.insight.146934

PMCID:: PMC8262314

Abstract Article PDF–1.7M

Select item 81650309.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 791045910.

Combinatorial CRISPR screen identifies fitness effects of gene paralogues

Nicola A. Thompson, Marco Ranzani, Louise van der Weyden, Vivek Iyer, Victoria Offord, Alastair Droop, Fiona Behan, Emanuel Gonçalves, Anneliese Speak, Francesco Iorio, James Hewinson, Victoria Harle, Holly Robertson, Elizabeth Anderson, Beiyuan Fu, Fengtang Yang, Guido Zagnoli-Vieira, Phil Chapman, Martin Del Castillo Velasco-Herrera, Mathew J. Garnett, Stephen P. Jackson, David J. Adams

Nat Commun. 2021; 12: 1302. Published online 2021 Feb 26. doi: 10.1038/s41467-021-21478-9

PMCID:: PMC7910459

Abstract Article PDF–3.3M

Select item 752271911.

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

Takaaki Hayashi, Shuhei Kameya, Kei Mizobuchi, Daiki Kubota, Sachiko Kikuchi, Kazutoshi Yoshitake, Atsushi Mizota, Akira Murakami, Takeshi Iwata, Tadashi Nakano

Sci Rep. 2020; 10: 15883. Published online 2020 Sep 28. doi: 10.1038/s41598-020-72623-1

PMCID:: PMC7522719

Abstract Article PDF–1.5M

Select item 732962612.

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

Mariana Matioli da Palma, Fabiana Louise Motta, Caio Perez Gomes, Mariana Vallim Salles, João Bosco Pesquero, Juliana Maria Ferraz Sallum

Invest Ophthalmol Vis Sci. 2020 Feb; 61(2): 38. Published online 2020 Feb 25. doi: 10.1167/iovs.61.2.38

PMCID:: PMC7329626

Abstract Article PDF–1.0M

Select item 726849913.

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

Feng-Juan Gao, Guo-Hong Tian, Fang-Yuan Hu, Dan-Dan Wang, Jian-Kang Li, Qing Chang, Fang Chen, Ge-Zhi Xu, Wei Liu, Ji-Hong Wu

BMC Ophthalmol. 2020; 20: 212. Published online 2020 Jun 1. doi: 10.1186/s12886-020-01478-x

PMCID:: PMC7268499

Abstract Article PDF–1.4M

Select item 721821814.

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia

Handong Dan, Tuo Li, Xinlan Lei, Xin Huang, Yiqiao Xing, Yin Shen

Biosci Rep. 2020 May 29; 40(5): BSR20200067. Published online 2020 May 12. doi: 10.1042/BSR20200067

PMCID:: PMC7218218

Abstract Article PDF–1018K

Select item 703295615.

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

Kanmin Xue, Jasleen K Jolly, Alun R Barnard, Anna Rudenko, Anna P Salvetti, Maria I Patrício, Thomas L Edwards, Markus Groppe, Harry O Orlans, Tanya Tolmachova, Graeme C Black, Andrew R Webster, Andrew J Lotery, Graham E Holder, Susan M Downes, Miguel C Seabra, Robert E MacLaren

Nat Med. Author manuscript; available in PMC 2020 Feb 20.

Published in final edited form as: Nat Med. 2018 Oct 1; 24(10): 1507–1512. Published online 2018 Oct 8. doi: 10.1038/s41591-018-0185-5

PMCID:: PMC7032956

Abstract Article PDF–1.5M

Select item 589826616.

ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest

Aya Noguchi, Shungo Adachi, Naoto Yokota, Tomohisa Hatta, Tohru Natsume, Hiroyuki Kawahara

Biol Open. 2018 Mar 15; 7(3): bio031575. Published online 2018 Feb 15. doi: 10.1242/bio.031575

PMCID:: PMC5898266

Abstract Article PDF–3.4M

Select item 586483217.

An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations

Xiaonan Liu, Kari Salokas, Fitsum Tamene, Yaming Jiu, Rigbe G. Weldatsadik, Tiina Öhman, Markku Varjosalo

Nat Commun. 2018; 9: 1188. Published online 2018 Mar 22. doi: 10.1038/s41467-018-03523-2

PMCID:: PMC5864832

Abstract Article PDF–4.5M

Select item 561851518.

REP1 Modulates Autophagy and Macropinocytosis to Enhance Cancer Cell Survival

Jungwon Choi, Hyena Kim, Young Ki Bae, Heesun Cheong

Int J Mol Sci. 2017 Sep; 18(9): 1866. Published online 2017 Aug 28. doi: 10.3390/ijms18091866

PMCID:: PMC5618515

Abstract Article PDF–4.4M

Select item 553161119.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 550074420.

Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

Kunho Bae, Ju Sun Song, Chung Lee, Nayoung K.D. Kim, Woong-Yang Park, Byoung Joon Kim, Chang-Seok Ki, Sang Jin Kim

Ann Lab Med. 2017 Sep; 37(5): 438–442. Published online 2017 Jun 20. doi: 10.3343/alm.2017.37.5.438

PMCID:: PMC5500744

Abstract Article PDF–1.5M

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