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Molecular Genetics and Metabolism|May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 GangliosidosisPamela Kell, Sonali Mishra, Precilla D'Souza, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|May 29, 2015
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease alleleMaria Praggastis, Brett Tortelli, Jessie Zhang, et al.Life Science Alliance|August 19, 2021
Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 miceCristin D Davidson, Alana L Gibson, Tansy Gu, et al.Cell Metabolism|April 9, 2013
Impaired cholesterol efflux in senescent macrophages promotes age-related macular degenerationAbdoulaye Sene, Aslam A Khan, Douglas Cox, et al.The Journal of Clinical Investigation|November 8, 2016
Rpl13a small nucleolar RNAs regulate systemic glucose metabolismJiyeon Lee, Alexis N Harris, Christopher L Holley, et al.Neurology. Clinical Practice|February 13, 2018
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An updateMarc C Patterson, Peter Clayton, Paul Gissen, et al.Journal of Lipid Research|June 16, 2019
N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 diseaseRohini Sidhu, Yawo Mondjinou, Mingxing Qian, et al.Molecular Genetics and Metabolism|December 1, 2020
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1Rohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.Diabetology & Metabolic Syndrome|August 7, 2019
Low dose chloroquine decreases insulin resistance in human metabolic syndrome but does not reduce carotid intima-media thicknessJanet B McGill, Mariko Johnson, Stacy Hurst, et al.Orphanet Journal of Rare Diseases|September 18, 2018
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs diseaseMylinh Vu, Rong Li, Amanda Baskfield, et al.Pageof 17