PMC Links for Nucleotide (Select 1519315203) - PMC

Select item 61055431.

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

Abstract Article PDF–1.4M

Select item 60031632.

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

Abstract Article PDF–1.4M

Select item 45054623.

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

Abstract Article PDF–2.4M

Select item 68513934.

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan, Homa Adle-Biassette, Sarah Ferrand-Sorbets, Christine Bulteau, Nathalie Dorison, Martine Fohlen, Marc Polivka, Sarah Weckhuysen, Georg Dorfmüller, Mathilde Chipaux, Stéphanie Baulac

Acta Neuropathol. 2019; 138(6): 885–900. Published online 2019 Aug 23. doi: 10.1007/s00401-019-02061-5

PMCID:: PMC6851393

Abstract Article PDF–2.6M

Select item 47477785.

Enterovirus D68 receptor requirements unveiled by haploid genetics

Jim Baggen, Hendrik Jan Thibaut, Jacqueline Staring, Lucas T. Jae, Yue Liu, Hongbo Guo, Jasper J. Slager, Jost W. de Bruin, Arno L. W. van Vliet, Vincent A. Blomen, Pieter Overduin, Ju Sheng, Cornelis A. M. de Haan, Erik de Vries, Adam Meijer, Michael G. Rossmann, Thijn R. Brummelkamp, Frank J. M. van Kuppeveld

Proc Natl Acad Sci U S A. 2016 Feb 2; 113(5): 1399–1404. Published online 2016 Jan 19. doi: 10.1073/pnas.1524498113

Correction in:: Proc Natl Acad Sci U S A. 2016 Mar 15; 113(11): E1588.

PMCID:: PMC4747778

Abstract Article PDF–2.0M

Select item 37246416.

UDP-N-acetylglucosamine Transporter (SLC35A3) Regulates Biosynthesis of Highly Branched N-Glycans and Keratan Sulfate

Dorota Maszczak-Seneczko, Paulina Sosicka, Teresa Olczak, Piotr Jakimowicz, Michał Majkowski, Mariusz Olczak

J Biol Chem. 2013 Jul 26; 288(30): 21850–21860. Published online 2013 Jun 13. doi: 10.1074/jbc.M113.460543

PMCID:: PMC3724641

Abstract Article PDF–3.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity