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Items: 1 to 20 of 26

1.
Cerebellar ataxia disease–associated Snx14 promotes lipid droplet growth at ER–droplet contacts
Sanchari Datta, Yang Liu, Hanaa Hariri, Jade Bowerman, W. Mike Henne
J Cell Biol. 2019 Apr 1; 218(4): 1335–1351. Published online 2019 Feb 14. doi: 10.1083/jcb.201808133
PMCID:
PMC6446855
ArticlePDF–5.2M
2.
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Sergio Sousa, Dagan Jenkins, Peter Clayton, Maria Bitner-Glindzicz, Gudrun E Moore, W Mike Henne, Philip Stanier
Hum Mol Genet. 2018 Jun 1; 27(11): 1927–1940. Published online 2018 Apr 9. doi: 10.1093/hmg/ddy101
PMCID:
PMC5961352
ArticlePDF–1.7M
3.
Autosomal Recessive Spinocerebellar Ataxia 20: Report of a New Patient and Review of Literature
Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, Neethukrishna K, Stephanie Bielas, Girisha KM
Eur J Med Genet. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: Eur J Med Genet. 2017 Feb; 60(2): 118–123. Published online 2016 Nov 29. doi: 10.1016/j.ejmg.2016.11.006
PMCID:
PMC5241222
ArticlePDF–1.0M
4.
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
Anna C. Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J. Duncan, Yun Jin Pai, Jorge M. Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W. Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier
Am J Hum Genet. 2014 Nov 6; 95(5): 611–621. doi: 10.1016/j.ajhg.2014.10.007
Correction in:
Am J Hum Genet. 2015 Jun 4; 96(6): 1008–1009.
PMCID:
PMC4225633
ArticlePDF–1.7M
5.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K. Vaux, Eric M. Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Fields, Gennaro Napolitano, R. Koksal Ozgul, Mahmut Samil Sagiroglu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman Gamal, Sawsan Abdel Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Ulrich Müller, Isabelle Desguerre, Jean-Laurent Casanova, Ali Dursun, Murat Gunel, Stacey B. Gabriel, Pascale de Lonlay, Joseph G. Gleeson
Nat Genet. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Nat Genet. 2015 May; 47(5): 528–534. Published online 2015 Apr 6. doi: 10.1038/ng.3256
PMCID:
PMC4414867
ArticlePDF–2.3M
6.
Structural Basis for Different Phosphoinositide Specificities of the PX Domains of Sorting Nexins Regulating G-protein Signaling
Caroline Mas, Suzanne J. Norwood, Andrea Bugarcic, Genevieve Kinna, Natalya Leneva, Oleksiy Kovtun, Rajesh Ghai, Lorena E. Ona Yanez, Jasmine L. Davis, Rohan D. Teasdale, Brett M. Collins
J Biol Chem. 2014 Oct 10; 289(41): 28554–28568. Published online 2014 Aug 22. doi: 10.1074/jbc.M114.595959
PMCID:
PMC4192506
ArticlePDF–7.0M
7.
The Phox homology (PX) domain, a new player in phosphoinositide signalling.
Y Xu, L F Seet, B Hanson, W Hong
Biochem J. 2001 Dec 15; 360(Pt 3): 513–530. doi: 10.1042/0264-6021:3600513
PMCID:
PMC1222253
SummaryPDF–657K
8.
Proteomic screen defines the hepatocyte nuclear factor 1α-binding partners and identifies HMGB1 as a new cofactor of HNF1α
Miao Yu, Jian Wang, Wei Li, Yan Zhi Yuan, Chang Yan Li, Xiao Hong Qian, Wang Xiang Xu, Yi Qun Zhan, Xiao Ming Yang
Nucleic Acids Res. 2008 Mar; 36(4): 1209–1219. Published online 2007 Dec 26. doi: 10.1093/nar/gkm1131
PMCID:
PMC2275099
ArticlePDF–4.2M
9.
A large family of endosome-localized proteins related to sorting nexin 1.
R D Teasdale, D Loci, F Houghton, L Karlsson, P A Gleeson
Biochem J. 2001 Aug 15; 358(Pt 1): 7–16. doi: 10.1042/0264-6021:3580007
PMCID:
PMC1222026
SummaryPDF–439K
10.
WDR76 is a RAS binding protein that functions as a tumor suppressor via RAS degradation
Woo-Jeong Jeong, Jong-Chan Park, Woo-Shin Kim, Eun Ji Ro, Soung Hoo Jeon, Sang-Kyu Lee, Young Nyun Park, Do Sik Min, Kang-Yell Choi
Nat Commun. 2019; 10: 295. Published online 2019 Jan 17. doi: 10.1038/s41467-018-08230-6
PMCID:
PMC6336889
ArticlePDF–2.9M
11.
Agrin has a pathological role in the progression of oral cancer
César Rivera, Flávia Silva Zandonadi, Celeste Sánchez-Romero, Ciro Dantas Soares, Daniela Campos Granato, Wilfredo Alejandro González-Arriagada, Adriana Franco Paes Leme
Br J Cancer. 2018 Jun 12; 118(12): 1628–1638. Published online 2018 Jun 6. doi: 10.1038/s41416-018-0135-5
PMCID:
PMC6008410
ArticlePDF–2.6M
12.
FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia
Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen
J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0
PMCID:
PMC9922468
ArticlePDF–4.9M
13.
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
ArticlePDF–4.1M
14.
Interpreting cancer genomes using systematic host perturbations by tumour virus proteins
Orit Rozenblatt-Rosen, Rahul C. Deo, Megha Padi, Guillaume Adelmant, Michael A. Calderwood, Thomas Rolland, Miranda Grace, Amélie Dricot, Manor Askenazi, Maria Tavares, Sam Pevzner, Fieda Abderazzaq, Danielle Byrdsong, Anne-Ruxandra Carvunis, Alyce A. Chen, Jingwei Cheng, Mick Correll, Melissa Duarte, Changyu Fan, Mariet C. Feltkamp, Scott B. Ficarro, Rachel Franchi, Brijesh K. Garg, Natali Gulbahce, Tong Hao, Amy M. Holthaus, Robert James, Anna Korkhin, Larisa Litovchick, Jessica C. Mar, Theodore R. Pak, Sabrina Rabello, Renee Rubio, Yun Shen, Saurav Singh, Jennifer M. Spangle, Murat Tasan, Shelly Wanamaker, James T. Webber, Jennifer Roecklein-Canfield, Eric Johannsen, Albert-László Barabási, Rameen Beroukhim, Elliott Kieff, Michael E. Cusick, David E. Hill, Karl Münger, Jarrod A. Marto, John Quackenbush, Frederick P. Roth, James A. DeCaprio, Marc Vidal
Nature. Author manuscript; available in PMC 2013 Jan 26.
Published in final edited form as: Nature. 2012 Jul 26; 487(7408): 491–495. doi: 10.1038/nature11288
PMCID:
PMC3408847
ArticlePDF–937K
15.
Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism
Giulia Antoniali, Fabrizio Serra, Lisa Lirussi, Mikiei Tanaka, Chiara D’Ambrosio, Shiheng Zhang, Slobodanka Radovic, Emiliano Dalla, Yari Ciani, Andrea Scaloni, Mengxia Li, Silvano Piazza, Gianluca Tell
Nat Commun. 2017; 8: 797. Published online 2017 Oct 6. doi: 10.1038/s41467-017-00842-8
PMCID:
PMC5630600
ArticlePDF–2.3M
16.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
ArticlePDF–6.0M
17.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
ArticlePDF–4.8M
18.
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
ArticlePDF–23M
19.
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
ArticlePDF–3.3M
20.
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
ArticlePDF–438K

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