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Items: 1 to 20 of 65

1.
SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis
Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, Tetsuya Oda, Tomoko Ikkaku, Ichiro Yokota, Yuji Takahashi, Yuta Suzuki, Takashi Matsukawa, Jun Goto, Kishin Koh, Yoshihisa Takiyama, Shinichi Morishita, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda
Ann Clin Transl Neurol. 2024 Apr; 11(4): 946–957. Published online 2024 Feb 5. doi: 10.1002/acn3.52013
PMCID:
PMC11021611
AbstractArticlePDF–2.6M
2.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Maike F. Dohrn, Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A. Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J. Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C. Danzi, Matthis Synofzik, Carsten G. Bönnemann, A. Nazli Başak, Thorsten Hornemann, Stephan Züchner
J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2024 Mar 8.
Published in final edited form as: J Neurol Neurosurg Psychiatry. 2024 Feb 14; 95(3): 201–205. Published online 2024 Feb 14. doi: 10.1136/jnnp-2023-332130
PMCID:
PMC10922288
AbstractArticlePDF–848K
3.
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
Safoora B Syeda, Museer A Lone, Payam Mohassel, Sandra Donkervoort, Pinki Munot, Marcondes C França, Jr, Juan Eli Galarza-Brito, Matthias Eckenweiler, Alexander Asamoah, Kenneth Gable, Anirban Majumdar, Anke Schumann, Sita D Gupta, Arpita Lakhotia, Perry B Shieh, A Reghan Foley, Kelly E Jackson, Katherine R Chao, Thomas L Winder, Francesco Catapano, Lucy Feng, Janbernd Kirschner, Francesco Muntoni, Teresa M Dunn, Thorsten Hornemann, Carsten G Bönnemann
J Neurol Neurosurg Psychiatry. 2024 Feb; 95(2): 103–113. Published online 2023 Nov 24. doi: 10.1136/jnnp-2023-332132
PMCID:
PMC10850718
AbstractArticlePDF–4.9M
4.
Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family
Lindsey M. Q. Wilson, Sadaf Saba, Jun Li, Lev Prasov, Jason M. L. Miller
Genes (Basel) 2023 Apr; 14(4): 931. Published online 2023 Apr 18. doi: 10.3390/genes14040931
PMCID:
PMC10137565
AbstractArticlePDF–4.6M
5.
The Pyridoxal 5′-Phosphate (PLP)-Dependent Enzyme Serine Palmitoyltransferase (SPT): Effects of the Small Subunits and Insights from Bacterial Mimics of Human hLCB2a HSAN1 Mutations
Ashley E. Beattie, Sita D. Gupta, Lenka Frankova, Agne Kazlauskaite, Jeffrey M. Harmon, Teresa M. Dunn, Dominic J. Campopiano
Biomed Res Int. 2013; 2013: 194371. Published online 2013 Sep 23. doi: 10.1155/2013/194371
PMCID:
PMC3794620
AbstractArticlePDF–2.3M
6.
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
AbstractArticlePDF–379K
7.
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis
Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Zheng Jiang, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Bei Cao, Yongping Chen, Huifang Shang
Hum Genomics. 2023; 17: 28. Published online 2023 Mar 25. doi: 10.1186/s40246-023-00479-3
PMCID:
PMC10040122
AbstractArticlePDF–725K
8.
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
AbstractArticlePDF–1.4M
9.
Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease
Ga-Young Ban, Dong-Ye Youn, Young-Min Ye, Hae-Sim Park
PLoS One. 2020; 15(10): e0240334. Published online 2020 Oct 8. doi: 10.1371/journal.pone.0240334
PMCID:
PMC7544079
AbstractArticlePDF–1.0M
10.
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
Jingxia Wu, Sicong Ma, Roger Sandhoff, Yanan Ming, Agnes Hotz-Wagenblatt, Vincent Timmerman, Nathalie Bonello-Palot, Beate Schlotter-Weigel, Michaela Auer-Grumbach, Pavel Seeman, Wolfgang N. Löscher, Markus Reindl, Florian Weiss, Eric Mah, Nina Weisshaar, Alaa Madi, Kerstin Mohr, Tilo Schlimbach, Rubí M.-H. Velasco Cárdenas, Jonas Koeppel, Florian Grünschläger, Lisann Müller, Maren Baumeister, Britta Brügger, Michael Schmitt, Guido Wabnitz, Yvonne Samstag, Guoliang Cui
Immunity. Author manuscript; available in PMC 2020 May 21.
Published in final edited form as: Immunity. 2019 May 21; 50(5): 1218–1231.e5. Published online 2019 Apr 2. doi: 10.1016/j.immuni.2019.03.005
PMCID:
PMC6531359
AbstractArticlePDF–2.8M
11.
RARE MUTATIONS IN ATL3, SPTLC2 AND SCN9A EXPLAINING HEREDITARY SENSORY NEUROPATHY AND CONGENITAL INSENSITIVITY TO PAIN IN A BRAZILIAN COHORT
Vivian Pedigone Cintra, Maike F. Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Teixeira Camargos, Luiz Sergio Mageste Barbosa, Adriana Rebelo, Lisa Abreu, Matt Danzi, Wilson Marques, Jr, Stephan Züchner
J Neurol Sci. Author manuscript; available in PMC 2022 Aug 15.
Published in final edited form as: J Neurol Sci. 2021 Aug 15; 427: 117498. Published online 2021 May 18. doi: 10.1016/j.jns.2021.117498
PMCID:
PMC8325641
AbstractArticlePDF–791K
12.
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
AbstractArticlePDF–740K
13.
Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?
Thorsten Hornemann, Yu Wei, Arnold von Eckardstein
Biochem J. 2007 Jul 1; 405(Pt 1): 157–164. Prepublished online 2007 Mar 1. Published online 2007 Jun 13. doi: 10.1042/BJ20070025
PMCID:
PMC1925250
AbstractArticlePDF–468K
14.
Structural insights into the regulation of human serine palmitoyltransferase complexes
Yingdi Wang, Yiming Niu, Zhe Zhang, Kenneth Gable, Sita D. Gupta, Niranjanakumari Somashekarappa, Gongshe Han, Hongtu Zhao, Alexander Myasnikov, Ravi Kalathur, Teresa M. Dunn, Chia-Hsueh Lee
Nat Struct Mol Biol. Author manuscript; available in PMC 2023 Jan 4.
Published in final edited form as: Nat Struct Mol Biol. 2021 Mar; 28(3): 240–248. Published online 2021 Feb 8. doi: 10.1038/s41594-020-00551-9
PMCID:
PMC9812531
AbstractArticlePDF–6.5M
15.
Autophagy regulates sphingolipid levels in the liver
Aikaterini Alexaki, Sita D. Gupta, Saurav Majumder, Mari Kono, Galina Tuymetova, Jeffrey M. Harmon, Teresa M. Dunn, Richard L. Proia
J Lipid Res. 2014 Dec; 55(12): 2521–2531. doi: 10.1194/jlr.M051862
PMCID:
PMC4242445
AbstractArticlePDF–1.7M
16.
The Essential Nature of Sphingolipids in Plants as Revealed by the Functional Identification and Characterization of the Arabidopsis LCB1 Subunit of Serine Palmitoyltransferase
Ming Chen, Gongshe Han, Charles R. Dietrich, Teresa M. Dunn, Edgar B. Cahoon
Plant Cell. 2006 Dec; 18(12): 3576–3593. doi: 10.1105/tpc.105.040774
PMCID:
PMC1785403
AbstractArticlePDF–1.5M
17.
Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities
Gongshe Han, Sita D. Gupta, Kenneth Gable, Somashekarappa Niranjanakumari, Prasun Moitra, Florian Eichler, Robert H. Brown, Jr., Jeffrey M. Harmon, Teresa M. Dunn
Proc Natl Acad Sci U S A. 2009 May 19; 106(20): 8186–8191. Published online 2009 May 5. doi: 10.1073/pnas.0811269106
Correction in:
Proc Natl Acad Sci U S A. 2009 Jun 16; 106(24): 9931.
PMCID:
PMC2688822
AbstractArticlePDF–1.3M
18.
ORMDL/serine palmitoyltransferase stoichiometry determines effects of ORMDL3 expression on sphingolipid biosynthesis
Deanna Siow, Manjula Sunkara, Teresa M. Dunn, Andrew J. Morris, Binks Wattenberg
J Lipid Res. 2015 Apr; 56(4): 898–908. doi: 10.1194/jlr.M057539
PMCID:
PMC4373746
AbstractArticlePDF–1.1M
19.
Notch3 Interactome Analysis Identified WWP2 as a Negative Regulator of Notch3 Signaling in Ovarian Cancer
Jin-Gyoung Jung, Alexander Stoeck, Bin Guan, Ren-Chin Wu, Heng Zhu, Seth Blackshaw, Ie-Ming Shih, Tian-Li Wang
PLoS Genet. 2014 Oct; 10(10): e1004751. Published online 2014 Oct 30. doi: 10.1371/journal.pgen.1004751
PMCID:
PMC4214668
AbstractArticlePDF–2.5M
20.
AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair
Zhen Chen, Chao Wang, Antrix Jain, Mrinal Srivastava, Mengfan Tang, Huimin Zhang, Xu Feng, Litong Nie, Dan Su, Yun Xiong, Sung Yun Jung, Jun Qin, Junjie Chen
Mol Cell Proteomics. 2020 Mar; 19(3): 467–477. Published online 2020 Jan 3. doi: 10.1074/mcp.RA119.001794
PMCID:
PMC7050103
AbstractArticlePDF–1.8M

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