title: [Annexins in Niemann-Pick type C disease].
abstract: Niemann-Pick disease is a genetic disorder, affecting approximately 1 to 150,000 living births per year; in Poland 1-5 cases. Usually diagnosed in the childhood, Niemann-Pick disease results in death in the teenage years. Niemann-Pick disease is defined as a lysosomal storage disorder and is related to impaired transport and/or accumulation of specific lipids inside the cell. In this report, we provide evidence about potential role of annexins, calcium- and membrane-binding proteins, in the formation and stabilization of cholesterol-rich microdomains and their possible function in organizing the membranes of early and late endosomes, organelles affected in the type C Niemann-Pick disease characterized by abnormal accumulation of cholesterol and glycosphingolipids in lysosomal like organelles.
authors.affiliation: Institut Biologii Doświadczalnej PAN im. Marcelego Nenckiego w Warszawie.
authors.forename: Małgorzata Eliza
authors.initials: ME
authors.lastname: Buszewska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Strzelecka-Kiliszek
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: Joanna
authors.initials: J
authors.lastname: Bandorowicz-Pikuła
mesh_terms: D017302:Annexins / Q000378:metabolism*; D001692:Biological Transport; D002352:Carrier Proteins / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D011992:Endosomes / Q000378:metabolism; D006023:Glycoproteins / Q000378:metabolism; D006028:Glycosphingolipids / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D050356:Lipid Metabolism; D008247:Lysosomes / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000378:metabolism; D026901:Membrane Transport Proteins / Q000378:metabolism; D008954:Models, Biological; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000378:metabolism*; D015398:Signal Transduction; D033921:Vesicular Transport Proteins
chemical_list: D017302:Annexins; D002352:Carrier Proteins; D006023:Glycoproteins; D006028:Glycosphingolipids; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; C106881:NPC1 protein, human; C104585:NPC2 protein, human; D000077296:Niemann-Pick C1 Protein; D033921:Vesicular Transport Proteins; D002784:Cholesterol