[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	Małgorzata Eliza Buszewska, Agnieszka Strzelecka-Kiliszek, Anna Tylki-Szymańska, Joanna Bandorowicz-Pikuła
Journal	Postepy biochemii (Postepy Biochem) Vol. 53 Issue 2 Pg. 169-73 ( 2007) ISSN: 0032-5422 [Print] Poland
Vernacular Title	Aneksyny w chorobie spichrzeniowej Niemanna-Picka typu C.
PMID	17969878 (Publication Type: Journal Article, Review)
Chemical References	Annexins Carrier Proteins Glycoproteins Glycosphingolipids Intracellular Signaling Peptides and Proteins Membrane Glycoproteins Membrane Transport Proteins NPC1 protein, human NPC2 protein, human Niemann-Pick C1 Protein Vesicular Transport Proteins Cholesterol
Topics	Annexins (metabolism) Biological Transport Carrier Proteins (metabolism) Cholesterol (metabolism) Endosomes (metabolism) Glycoproteins (metabolism) Glycosphingolipids (metabolism) Humans Intracellular Signaling Peptides and Proteins Lipid Metabolism Lysosomes (metabolism) Membrane Glycoproteins (metabolism) Membrane Transport Proteins (metabolism) Models, Biological Mutation Niemann-Pick C1 Protein Niemann-Pick Disease, Type C (metabolism) Signal Transduction Vesicular Transport Proteins

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