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Items: 1 to 20 of 28

1.
SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE
Soad Elziny, Peter B. Crino, Melodie Winawer
Neurobiol Dis. Author manuscript; available in PMC 2024 Apr 4.
Published in final edited form as: Neurobiol Dis. 2023 Oct 15; 187: 106299. Published online 2023 Sep 20. doi: 10.1016/j.nbd.2023.106299
PMCID:
PMC10994450
ArticlePDF–705K
2.
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
Carmen Barba, Ingmar Blumcke, Melodie R. Winawer, Till Hartlieb, Hoon-Chul Kang, Laura Grisotto, Mathilde Chipaux, Christian G. Bien, Barbora Heřmanovská, Brenda E. Porter, Hart G.W. Lidov, Valentina Cetica, Friedrich G. Woermann, Javier A. Lopez-Rivera, Peter D. Canoll, Irina Mader, Ludovico D'Incerti, Sara Baldassari, Edward Yang, Ahmed Gaballa, Hannes Vogel, Barbora Straka, Letizia Macconi, Tilman Polster, Gerald A. Grant, Lenka Krsková, Hui Jin Shin, Ara Ko, Peter B. Crino, Pavel Krsek, Jeong Ho Lee, Dennis Lal, Stéphanie Baulac, Annapurna Poduri, Renzo Guerrini, on behalf of the SLC35A2 Study Group
Neurology. 2023 Jan 31; 100(5): e528–e542. doi: 10.1212/WNL.0000000000201471
PMCID:
PMC9931085
ArticlePDF–942K
3.
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Thomas Bonduelle, Till Hartlieb, Sara Baldassari, Nam Suk Sim, Se Hoon Kim, Hoon-Chul Kang, Katja Kobow, Roland Coras, Mathilde Chipaux, Georg Dorfmüller, Homa Adle-Biassette, Eleonora Aronica, Jeong Ho Lee, Ingmar Blumcke, Stéphanie Baulac
Acta Neuropathol Commun. 2021; 9: 3. Published online 2021 Jan 6. doi: 10.1186/s40478-020-01085-3
PMCID:
PMC7788938
ArticlePDF–2.4M
4.
SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals.
Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer E. Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George E. Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Katherine Lewis, Nicola Longo, Charles Marques Lourenço, Christopher C.Y. Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler M. Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, Maria J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika Shah Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Eric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Undiagnosed Disease Network, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grunewald, Hudson H. Freeze
Hum Mutat. Author manuscript; available in PMC 2020 Jul 1.
Published in final edited form as: Hum Mutat. 2019 Jul; 40(7): 908–925. Published online 2019 Apr 24. doi: 10.1002/humu.23731
PMCID:
PMC6661012
ArticlePDF–1.9M
5.
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy
Melodie R. Winawer, Nicole G. Griffin, Jorge Samanamud, Evan H. Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A. Schevon, Patricia Dugan, Manu Hegde, Sameer A. Sheth, Guy M. McKhann, Werner K. Doyle, Gerald A. Grant, Brenda E. Porter, Mohamad A. Mikati, Carrie R. Muh, Colin D. Malone, Ann Marie R. Bergin, Jurriaan M. Peters, Danielle K. McBrian, Alison M. Pack, Cigdem I. Akman, Christopher M. LaCoursiere, Katherine M. Keever, Joseph R. Madsen, Edward Yang, Hart G.W. Lidov, Catherine Shain, Andrew S. Allen, Peter Canoll, Peter B. Crino, Annapurna H. Poduri, Erin L. Heinzen
Ann Neurol. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: Ann Neurol. 2018 Jun; 83(6): 1133–1146. Published online 2018 May 16. doi: 10.1002/ana.25243
PMCID:
PMC6105543
ArticlePDF–1.4M
6.
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report
Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower, Mary Ella Pierpont
BMC Med Genet. 2018; 19: 100. Published online 2018 Jun 15. doi: 10.1186/s12881-018-0617-6
PMCID:
PMC6003163
ArticlePDF–1.4M
7.
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Bobby G. Ng, Kati J. Buckingham, Kimiyo Raymond, Martin Kircher, Emily H. Turner, Miao He, Joshua D. Smith, Alexey Eroshkin, Marta Szybowska, Marie E. Losfeld, Jessica X. Chong, Mariya Kozenko, Chumei Li, Marc C. Patterson, Rodney D. Gilbert, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Hudson H. Freeze
Am J Hum Genet. 2013 Apr 4; 92(4): 632–636. doi: 10.1016/j.ajhg.2013.03.012
PMCID:
PMC3617373
ArticlePDF–404K
8.
A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2
Danyang Li, Somshuvra Mukhopadhyay
J Biol Chem. 2021 Sep; 297(3): 101069. Published online 2021 Aug 10. doi: 10.1016/j.jbc.2021.101069
PMCID:
PMC8411240
ArticlePDF–6.7M
9.
Association of the Golgi UDP-Galactose Transporter with UDP-Galactose:Ceramide Galactosyltransferase Allows UDP-Galactose Import in the Endoplasmic Reticulum
Hein Sprong, Sophie Degroote, Tommy Nilsson, Masao Kawakita, Nobuhiro Ishida, Peter van der Sluijs, Gerrit van Meer
Mol Biol Cell. 2003 Aug; 14(8): 3482–3493. doi: 10.1091/mbc.E03-03-0130
PMCID:
PMC181583
ArticlePDF–495K
10.
UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats)
Dorota Maszczak-Seneczko, Paulina Sosicka, Beata Kaczmarek, Michał Majkowski, Marcin Luzarowski, Teresa Olczak, Mariusz Olczak
J Biol Chem. 2015 Jun 19; 290(25): 15475–15486. Published online 2015 May 5. doi: 10.1074/jbc.M115.636670
PMCID:
PMC4505462
ArticlePDF–2.4M
11.
The interactome of metabolic enzyme carbonic anhydrase IX reveals novel roles in tumor cell migration and invadopodia/MMP14-mediated invasion
M Swayampakula, P C McDonald, M Vallejo, E Coyaud, S C Chafe, A Westerback, G Venkateswaran, J Shankar, G Gao, E M N Laurent, Y Lou, K L Bennewith, C T Supuran, I R Nabi, B Raught, S Dedhar
Oncogene. 2017 Nov 9; 36(45): 6244–6261. Published online 2017 Jul 10. doi: 10.1038/onc.2017.219
PMCID:
PMC5684442
ArticlePDF–4.4M
12.
Global analysis of host-pathogen interactions that regulate early stage HIV-1 replication
Renate König, Yingyao Zhou, Daniel Elleder, Tracy L. Diamond, Ghislain M.C. Bonamy, Jeffrey T. Irelan, Chih-yuan Chiang, Buu P. Tu, Paul D. De Jesus, Caroline E. Lilley, Shannon Seidel, Amanda M. Opaluch, Jeremy S. Caldwell, Matthew D. Weitzman, Kelli L. Kuhen, Sourav Bandyopadhyay, Trey Ideker, Anthony P. Orth, Loren J. Miraglia, Frederic D. Bushman, John A. Young, Sumit K. Chanda
Cell. Author manuscript; available in PMC 2009 Oct 3.
Published in final edited form as: Cell. 2008 Oct 3; 135(1): 49–60. doi: 10.1016/j.cell.2008.07.032
PMCID:
PMC2628946
ArticlePDF–3.4M
13.
Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma
Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn
Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255
PMCID:
PMC10916866
ArticlePDF–4.7M
14.
Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability
Hema Adhikari, Christopher M. Counter
Nat Commun. 2018; 9: 3646. Published online 2018 Sep 7. doi: 10.1038/s41467-018-05692-6
PMCID:
PMC6128905
ArticlePDF–2.2M
15.
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
16.
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
17.
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis
Robert S. Kiss, Jarred Chicoine, Youssef Khalil, Robert Sladek, He Chen, Alessandro Pisaturo, Cyril Martin, Jessica D. Dale, Tegan A. Brudenell, Archith Kamath, Jeffrey Kyei-Boahen, Anouar Hafiane, Girija Daliah, Célia Alecki, Tayah S. Hopes, Martin Heier, Irene A. Aligianis, Jean-Jacques Lebrun, Julie Aspden, Emanuele Paci, Anja Kerksiek, Dieter Lütjohann, Peter Clayton, Jimi C. Wills, Alex von Kriegsheim, Tommy Nilsson, Eamonn Sheridan, Mark T. Handley
J Biol Chem. 2023 Nov; 299(11): 105295. Published online 2023 Sep 28. doi: 10.1016/j.jbc.2023.105295
PMCID:
PMC10641524
ArticlePDF–3.8M
18.
The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2
Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari
Mol Cell. Author manuscript; available in PMC 2020 Feb 21.
Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001
PMCID:
PMC6386588
ArticlePDF–1.7M
19.
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
20.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
ArticlePDF–3.6M

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