Article
Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells.
Journal of proteomics - 18 Jun 2015
Scifo Enzo, Szwajda Agnieszka, Soliymani Rabah, Pezzini Francesco, Bianchi Marzia, Dapkunas Arvydas, Dębski Janusz, Uusi-Rauva Kristiina, Dadlez Michał, Gingras Anne-Claude, Tyynelä Jaana, Simonati Alessandro, Jalanko Anu, Baumann Marc H, Lalowski Maciej
Abstract excerpt
Neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive childhood disorders, characterized by early accumulation of autofluorescent storage material in lysosomes of neurons or other cells. Clinical symptoms of NCL include: progressive loss of vision, mental and motor deterioration, epileptic seizures and premature death. CLN1 disease (MIM#256730) is caused by mutations in the CLN1 gene, which...
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