Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease FD Porter, DE Scherrer, MH Lanier, SJ Langmade, V Molugu, SE Gale, ... Science translational medicine 2 (56), 56ra81-56ra81, 2010 | 395 | 2010 |
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial DS Ory, EA Ottinger, NY Farhat, KA King, X Jiang, L Weissfeld, ... The Lancet 390 (10104), 1758-1768, 2017 | 309 | 2017 |
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma [S] X Jiang, R Sidhu, FD Porter, NM Yanjanin, AO Speak, DT Te Vruchte, ... Journal of lipid research 52 (7), 1435-1445, 2011 | 304 | 2011 |
Fatty acid synthesis configures the plasma membrane for inflammation in diabetes X Wei, H Song, L Yin, MG Rizzo, R Sidhu, DF Covey, DS Ory, ... Nature 539 (7628), 294-298, 2016 | 268 | 2016 |
Small nucleolar RNAs U32a, U33, and U35a are critical mediators of metabolic stress CI Michel, CL Holley, BS Scruggs, R Sidhu, RT Brookheart, ... Cell metabolism 14 (1), 33-44, 2011 | 250 | 2011 |
Impaired cholesterol efflux in senescent macrophages promotes age-related macular degeneration A Sene, AA Khan, D Cox, REI Nakamura, A Santeford, BM Kim, R Sidhu, ... Cell metabolism 17 (4), 549-561, 2013 | 244 | 2013 |
A new glucocerebrosidase chaperone reduces α-synuclein and glycolipid levels in iPSC-derived dopaminergic neurons from patients with Gaucher disease and parkinsonism E Aflaki, DK Borger, N Moaven, BK Stubblefield, SA Rogers, S Patnaik, ... Journal of Neuroscience 36 (28), 7441-7452, 2016 | 229 | 2016 |
δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders M Xu, K Liu, M Swaroop, FD Porter, R Sidhu, S Firnkes, DS Ory, ... Journal of Biological Chemistry, 2012 | 163 | 2012 |
Palmitate and lipopolysaccharide trigger synergistic ceramide production in primary macrophages JD Schilling, HM Machkovech, L He, R Sidhu, H Fujiwara, K Weber, ... Journal of Biological Chemistry 288 (5), 2923-2932, 2013 | 160 | 2013 |
Development of a bile acid–based newborn screen for Niemann-Pick disease type C X Jiang, R Sidhu, L Mydock-McGrane, FF Hsu, DF Covey, DE Scherrer, ... Science translational medicine 8 (337), 337ra63-337ra63, 2016 | 136 | 2016 |
Ceramide remodeling and risk of cardiovascular events and mortality LR Peterson, V Xanthakis, MS Duncan, S Gross, N Friedrich, H Völzke, ... Journal of the American Heart Association 7 (10), e007931, 2018 | 124 | 2018 |
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele M Praggastis, B Tortelli, J Zhang, H Fujiwara, R Sidhu, A Chacko, Z Chen, ... Journal of Neuroscience 35 (21), 8091-8106, 2015 | 123 | 2015 |
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease KL Bowden, NJ Bilbey, LM Bilawchuk, E Boadu, R Sidhu, DS Ory, H Du, ... Journal of Biological Chemistry 286 (35), 30624-30635, 2011 | 114 | 2011 |
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann–Pick C1 TJ Maarup, AH Chen, FD Porter, NY Farhat, DS Ory, R Sidhu, X Jiang, ... Molecular genetics and metabolism 116 (1-2), 75-79, 2015 | 111 | 2015 |
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling M Fan, R Sidhu, H Fujiwara, B Tortelli, J Zhang, C Davidson, SU Walkley, ... Journal of lipid research 54 (10), 2800-2814, 2013 | 110 | 2013 |
Eggs early in complementary feeding increase choline pathway biomarkers and DHA: a randomized controlled trial in Ecuador LL Iannotti, CK Lutter, WF Waters, CAG Riofrío, C Malo, G Reinhart, ... The American journal of clinical nutrition 106 (6), 1482-1489, 2017 | 89 | 2017 |
Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker D Te Vruchte, AO Speak, KL Wallom, N Al Eisa, DA Smith, CJ Hendriksz, ... The Journal of clinical investigation 124 (3), 1320-1328, 2014 | 88 | 2014 |
Rpl13a small nucleolar RNAs regulate systemic glucose metabolism J Lee, AN Harris, CL Holley, J Mahadevan, KD Pyles, Z Lavagnino, ... The Journal of clinical investigation 126 (12), 4616-4625, 2016 | 84 | 2016 |
A validated LC-MS/MS assay for quantification of 24 (S)-hydroxycholesterol in plasma and cerebrospinal fluid R Sidhu, H Jiang, NY Farhat, N Carrillo-Carrasco, M Woolery, E Ottinger, ... Journal of lipid research 56 (6), 1222-1233, 2015 | 67 | 2015 |
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1) B Tortelli, H Fujiwara, JH Bagel, J Zhang, R Sidhu, X Jiang, NM Yanjanin, ... Human molecular genetics 23 (22), 6022-6033, 2014 | 64 | 2014 |