Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation.

Newton, Jason; Palladino, Elisa N D; Weigel, Cynthia; Maceyka, Michael; Gräler, Markus H; Senkal, Can E; Enriz, Ricardo D; Marvanova, Pavlina; Jampilek, Josef; Lima, Santiago; Milstien, Sheldon; Spiegel, Sarah

Newton, Jason; Palladino, Elisa N D; Weigel, Cynthia; Maceyka, Michael; Gräler, Markus H; Senkal, Can E; Enriz, Ricardo D; Marvanova, Pavlina; Jampilek, Josef; Lima, Santiago; Milstien, Sheldon; Spiegel, Sarah.

Afiliación

Newton J; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA. Electronic address: newtonjc2@vcu.edu.
Palladino END; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Weigel C; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Maceyka M; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Gräler MH; Department of Anesthesiology and Intensive Care Medicine, Center for Sepsis Control and Care (CSCC), and Center for Molecular Biomedicine (CMB), University Hospital Jena, Jena, Germany.
Senkal CE; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Enriz RD; Facultad de Quimica, Bioquimica, y Farmacia, Universidad Nacional de San Luis, Instituto Multidisciplinario de Investigaciones Biológicas (IMIBIO-CONICET), San Luis, Argentina.
Marvanova P; Department of Chemical Drugs, Faculty of Pharmacy, University of Veterinary and Pharmaceutical Sciences, Brno, Czech Republic.
Jampilek J; Department of Analytical Chemistry, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
Lima S; Department of Biology, Virginia Commonwealth University, Richmond, Virginia, USA.
Milstien S; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Spiegel S; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA. Electronic address: sarah.spiegel@vcuhealth.org.

J Biol Chem ; 295(27): 9121-9133, 2020 07 03.

Article en En | MEDLINE | ID: mdl-32385114

Asunto(s)

Enfermedad de Niemann-Pick Tipo C/metabolismo; Fosfotransferasas (Aceptor de Grupo Alcohol)/metabolismo; Esfingosina/metabolismo; Animales; Proteínas Portadoras/metabolismo; Línea Celular; Colesterol/metabolismo; Ésteres del Colesterol/metabolismo; Endosomas/metabolismo; Fibroblastos; Humanos; Péptidos y Proteínas de Señalización Intracelular/metabolismo; Lisosomas/metabolismo; Glicoproteínas de Membrana/metabolismo; Ratones; Proteína Niemann-Pick C1/genética; Proteína Niemann-Pick C1/metabolismo; Enfermedad de Niemann-Pick Tipo C/fisiopatología; Cultivo Primario de Células; Transporte de Proteínas; Esfingolípidos/metabolismo; Esfingosina/genética; Proteínas de Transporte Vesicular/genética; Proteínas de Transporte Vesicular/metabolismo

Palabras clave

NPC1; NiemannPick type C; cholesterol; genetic disorder; lipid metabolism; lysosomal storage disease; neurodegeneration; sphingolipid; sphingolipids; sphingosine kinase; sphingosine kinase (SphK); sphingosine-1-phosphate (S1P)

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esfingosina / Fosfotransferasas (Aceptor de Grupo Alcohol) / Enfermedad de Niemann-Pick Tipo C Límite: Animals / Humans Idioma: En Revista: J Biol Chem Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos

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