PMC Links for OMIM (Select 613640) - PMC

Select item 76854881.

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Marin L. Gantner, Kevin Eade, Martina Wallace, Michal K. Handzlik, Regis Fallon, Jennifer Trombley, Roberto Bonelli, Sarah Giles, Sarah Harkins-Perry, Tjebo F.C. Heeren, Lydia Sauer, Yoichiro Ideguchi, Michelle Baldini, Lea Scheppke, Michael I. Dorrell, Maki Kitano, Barbara J. Hart, Carolyn Cai, Takayuki Nagasaki, Mehmet G. Badur, Mali Okada, Sasha M. Woods, Catherine Egan, Mark Gillies, Robyn Guymer, Florian Eichler, Melanie Bahlo, Marcus Fruttiger, Rando Allikmets, Paul S. Bernstein, Christian M. Metallo, Martin Friedlander

N Engl J Med. Author manuscript; available in PMC 2020 Nov 24.

Published in final edited form as: N Engl J Med. 2019 Oct 10; 381(15): 1422–1433. Published online 2019 Sep 11. doi: 10.1056/NEJMoa1815111

PMCID:: PMC7685488

Abstract Article PDF–1.4M

Select item 63451182.

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1

Vera Fridman, Saranya Suriyanarayanan, Peter Novak, William David, Eric A. Macklin, Diane McKenna-Yasek, Kailey Walsh, Razina Aziz-Bose, Anne Louise Oaklander, Robert Brown, Thorsten Hornemann, Florian Eichler

Neurology. 2019 Jan 22; 92(4): e359–e370. doi: 10.1212/WNL.0000000000006811

PMCID:: PMC6345118

Abstract Article PDF–697K

Select item 43266543.

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

Daniela Ernst, Sinéad M. Murphy, Karthik Sathiyanadan, Yu Wei, Alaa Othman, Matilde Laurá, Yo-Tsen Liu, Anke Penno, Julian Blake, Michael Donaghy, Henry Houlden, Mary M. Reilly, Thorsten Hornemann

Neuromolecular Med. 2015; 17(1): 47–57. Published online 2015 Jan 8. doi: 10.1007/s12017-014-8339-1

PMCID:: PMC4326654

Abstract Article PDF–1.0M

Select item 37163544.

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

Sinéad M. Murphy, Daniela Ernst, Yu Wei, Matilde Laurà, Yo-Tsen Liu, James Polke, Julian Blake, John Winer, Henry Houlden, Thorsten Hornemann, Mary M. Reilly

Neurology. 2013 Jun 4; 80(23): 2106–2111. doi: 10.1212/WNL.0b013e318295d789

PMCID:: PMC3716354

Abstract Article PDF–379K

Select item 29488075.

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Annelies Rotthier, Michaela Auer-Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida-Souza, Kim Van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter-Weigel, Wolfgang Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman

Am J Hum Genet. 2010 Oct 8; 87(4): 513–522. doi: 10.1016/j.ajhg.2010.09.010

PMCID:: PMC2948807

Abstract Article PDF–740K

Select item 28569956.

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Anke Penno, Mary M. Reilly, Henry Houlden, Matilde Laurá, Katharina Rentsch, Vera Niederkofler, Esther T. Stoeckli, Garth Nicholson, Florian Eichler, Robert H. Brown, Jr., Arnold von Eckardstein, Thorsten Hornemann

J Biol Chem. 2010 Apr 9; 285(15): 11178–11187. Published online 2010 Jan 22. doi: 10.1074/jbc.M109.092973

PMCID:: PMC2856995

Abstract Article PDF–1.0M

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