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Molecular Genetics and Metabolism|April 22, 2023
Brain proton MR spectroscopy measurements in CLN3 diseaseAn N Dang Do, Eva H Baker, Cristan A Farmer, et al.Elife|November 28, 2015
Intracellular sphingosine releases calcium from lysosomesDoris Höglinger, Per Haberkant, Auxiliadora Aguilera-Romero, et al.Stem Cell Research|March 2, 2020
An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 geneRong Li, Manisha Pradhan, Miao Xu, et al.Molecular Genetics and Metabolism|November 1, 2020
Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1Antony Cougnoux, Julia C Yerger, Mason Fellmeth, et al.American Journal of Medical Genetics. Part A|October 13, 2011
Adrenal function in Smith-Lemli-Opitz syndromeSimona E Bianconi, Sandra K Conley, Meg F Keil, et al.The Journal of Clinical Endocrinology and Metabolism|July 24, 2015
Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal CortexEdra London, Christopher A Wassif, Anelia Horvath, et al.American Journal of Medical Genetics. Part A|February 2, 2021
Auditory phenotype of Smith-Lemli-Opitz syndromeChristopher K Zalewski, Sarah A Sydlowski, Kelly A King, et al.Journal of Cell Science|April 26, 2006
Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvatureMarjorie C Gondré-Lewis, Horia I Petrache, Christopher A Wassif, et al.Biorxiv : the Preprint Server for Biology|February 23, 2026
Generation and characterization of human iPSC-derived NPC1 I1061T/I10161T i 3 Neurons as a model for NPC1 diseaseShikha Salhotra, Niamh X Cawley, Christian White, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2026
Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1Khushboo Singhal, Matthew T Menold, Niamh X Cawley, et al.Pageof 20