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Proteomics|January 13, 2023
A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1Wenping Li, Melissa R Pergande, Christopher A Crutchfield, et al.Digestive Diseases and Sciences|January 23, 2018
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse ModelAntony Cougnoux, Miyad Movassaghi, Jaqueline A Picache, et al.American Journal of Human Genetics|March 5, 2016
A Clinical Service to Support the Return of Secondary Genomic Findings in Human ResearchAndrew J Darnell, Howard Austin, David A Bluemke, et al.Human Molecular Genetics|July 23, 2021
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeuticsJorge L Rodriguez-Gil, Laura L Baxter, Dawn E Watkins-Chow, et al.Wellcome Open Research|April 18, 2023
Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1Oscar C W Chen, Stephan Siebel, Alexandria Colaco, et al.Nature|September 21, 2022
CLN3 is required for the clearance of glycerophosphodiesters from lysosomesNouf N Laqtom, Wentao Dong, Uche N Medoh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, 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.Science Translational Medicine|November 5, 2010
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 diseaseForbes D Porter, David E Scherrer, Michael H Lanier, et al.Journal of Proteome Research|July 9, 2025
Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz SyndromeWenping Li, Melissa R Pergande, Fidel Serna-Perez, et al.Pageof 20