Niemann-Pick Disease, Type C1 Antikörper

Ferrante, De Nuccio, Pepponi, Visentin, Martire, Bernardo, Minghetti, Popoli: "Stimulation of adenosine A2A receptors reduces intracellular cholesterol accumulation and rescues mitochondrial abnormalities in human neural cell models of Niemann-Pick C1." in: Neuropharmacology, Vol. 103, pp. 155-62, (2016) (PubMed).

Ebrahimi-Fakhari, Wahlster, Bartz, Werenbeck-Ueding, Praggastis, Zhang, Joggerst-Thomalla, Theiss, Grimm, Ory, Runz: "Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells." in: Human molecular genetics, (2016) (PubMed).

Li, Deffieu, Lee, Saha, Pfeffer: "Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 112, Issue 48, pp. 14876-81, (2015) (PubMed).

Maetzel, Sarkar, Wang, Abi-Mosleh, Xu, Cheng, Gao, Mitalipova, Jaenisch: "Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells." in: Stem cell reports, Vol. 2, Issue 6, pp. 866-80, (2014) (PubMed).

Armstrong, Mattsson, Appelqvist, Janefjord, Sandin, Agholme, Olsson, Svensson, Blennow, Zetterberg, Kågedal: "Lysosomal network proteins as potential novel CSF biomarkers for Alzheimer's disease." in: Neuromolecular medicine, Vol. 16, Issue 1, pp. 150-60, (2014) (PubMed).

Zampieri, Bembi, Rosso, Filocamo, Dardis: "Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking." in: JIMD reports, Vol. 2, pp. 59-69, (2013) (PubMed).

Ohgane, Karaki, Dodo, Hashimoto: "Discovery of oxysterol-derived pharmacological chaperones for NPC1: implication for the existence of second sterol-binding site." in: Chemistry & biology, Vol. 20, Issue 3, pp. 391-402, (2013) (PubMed).

Fu, Wassif, Yanjanin, Watkins-Chow, Baxter, Incao, Liscum, Sidhu, Firnkes, Graham, Ory, Porter, Pavan: "Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1." in: Human molecular genetics, Vol. 22, Issue 17, pp. 3508-23, (2013) (PubMed).

Roszell, Tao, Yu, Gao, Huang, Ning, Feinstein, Vite, Bates: "Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease." in: PLoS ONE, Vol. 8, Issue 7, pp. e67084, (2013) (PubMed).

Cianciola, Greene, Morton, Carlin: "Adenovirus RIDα uncovers a novel pathway requiring ORP1L for lipid droplet formation independent of NPC1." in: Molecular biology of the cell, Vol. 24, Issue 21, pp. 3309-25, (2013) (PubMed).