Orm1 and Orm2 are conserved endoplasmic reticulum membrane proteins regulating lipid homeostasis and protein quality control S Han, MA Lone, R Schneiter, A Chang Proceedings of the National Academy of Sciences 107 (13), 5851-5856, 2010 | 312 | 2010 |
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis P Mohassel, S Donkervoort, MA Lone, M Nalls, K Gable, SD Gupta, ... Nature medicine 27 (7), 1197-1204, 2021 | 107 | 2021 |
1-Deoxysphingolipids MA Lone, T Santos, I Alecu, LC Silva, T Hornemann Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2019 | 85 | 2019 |
FADS3 is a Δ14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome G Karsai, M Lone, Z Kutalik, JT Brenna, H Li, D Pan, A von Eckardstein, ... Journal of Biological Chemistry 295 (7), 1889-1897, 2020 | 75 | 2020 |
Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases MA Lone, AJ Hülsmeier, EM Saied, G Karsai, C Arenz, A von Eckardstein, ... Proceedings of the National Academy of Sciences 117 (27), 15591-15598, 2020 | 65 | 2020 |
Mammalian sphingoid bases: Biophysical, physiological and pathological properties AC Carreira, TC Santos, MA Lone, E Zupančič, E Lloyd-Evans, ... Progress in lipid research 75, 100988, 2019 | 42 | 2019 |
Yeast integral membrane proteins Apq12, Brl1, and Brr6 form a complex important for regulation of membrane homeostasis and nuclear pore complex biogenesis MA Lone, AE Atkinson, CA Hodge, S Cottier, F Martínez-Montañés, ... Eukaryotic cell 14 (12), 1217-1227, 2015 | 37 | 2015 |
CaMtw1, a member of the evolutionarily conserved Mis12 kinetochore protein family, is required for efficient inner kinetochore assembly in the pathogenic yeast Candida albicans B Roy, LS Burrack, MA Lone, J Berman, K Sanyal Molecular microbiology 80 (1), 14-32, 2011 | 33 | 2011 |
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C M Auranen, J Toppila, S Suriyanarayanan, MA Lone, A Paetau, ... Molecular Case Studies 3 (6), a002212, 2017 | 30 | 2017 |
Characterization of N-Acyl Phosphatidylethanolamine-Specific Phospholipase-D Isoforms in the Nematode Caenorhabditis elegans N Harrison, MA Lone, TK Kaul, P Reis Rodrigues, IV Ogungbe, MS Gill PloS one 9 (11), e113007, 2014 | 30 | 2014 |
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins MA Lone, MJ Aaltonen, A Zidell, HF Pedro, JAM Saute, S Mathew, ... The Journal of Clinical Investigation 132 (18), 2022 | 27 | 2022 |
Farnesoid X receptor activation induces the degradation of hepatotoxic 1‐deoxysphingolipids in non‐alcoholic fatty liver disease Z Gai, T Gui, I Alecu, MA Lone, T Hornemann, Q Chen, M Visentin, ... Liver International 40 (4), 844-859, 2020 | 27 | 2020 |
An alternatively spliced, non-signaling insulin receptor modulates insulin sensitivity via insulin peptide sequestration in C. elegans BA Martinez, P Reis Rodrigues, RM Nuñez Medina, P Mondal, ... Elife 9, e49917, 2020 | 25 | 2020 |
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions AJ Clark, U Kugathasan, G Baskozos, DA Priestman, N Fugger, MA Lone, ... Cell Reports Medicine 2 (7), 2021 | 20 | 2021 |
A novel variant (Asn177Asp) in SPTLC2 causing hereditary sensory autonomic neuropathy type 1C S Suriyanarayanan, A Othman, B Dräger, A Schirmacher, P Young, ... Neuromolecular medicine 21 (2), 182-191, 2019 | 18 | 2019 |
Precision mouse models of Yars/dominant intermediate Charcot‐Marie‐Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1 TJ Hines, ALD Tadenev, MA Lone, CL Hatton, I Bagasrawala, MG Stum, ... Journal of anatomy 241 (5), 1169-1185, 2022 | 16 | 2022 |
The natural diyne-furan fatty acid EV-086 is an inhibitor of fungal delta-9 fatty acid desaturation with efficacy in a model of skin dermatophytosis P Knechtle, M Diefenbacher, KBV Greve, F Brianza, C Folly, H Heider, ... Antimicrobial agents and chemotherapy 58 (1), 455-466, 2014 | 15 | 2014 |
A novel Sit4 phosphatase complex is involved in the response to ceramide stress in yeast A Woodacre, MA Lone, D Jablonowski, R Schneiter, F Giorgini, ... Oxidative Medicine and Cellular Longevity 2013 (1), 129645, 2013 | 10 | 2013 |
SPTLC1 p. Leu38Arg, a novel mutation associated with childhood ALS MA Lone, S Zeng, F Bourquin, M Wang, S Huang, Z Lin, B Tang, R Zhang, ... Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2023 | 9 | 2023 |
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis C Gehin, MA Lone, W Lee, L Capolupo, S Ho, AM Adeyemi, EH Gerkes, ... The Journal of clinical investigation 133 (10), 2023 | 7 | 2023 |