Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1.

Cawley, Niamh X; Lyons, Anna T; Abebe, Daniel; Wassif, Christopher A; Porter, Forbes D

Cawley, Niamh X; Lyons, Anna T; Abebe, Daniel; Wassif, Christopher A; Porter, Forbes D.

Afiliación

Cawley NX; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Lyons AT; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Abebe D; Research Animal Management Branch, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Wassif CA; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Porter FD; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

Int J Mol Sci ; 21(7)2020 Mar 31.

Article en En | MEDLINE | ID: mdl-32244519

Asunto(s)

Colesterol/metabolismo; Péptidos y Proteínas de Señalización Intracelular/genética; Péptidos y Proteínas de Señalización Intracelular/metabolismo; Enfermedad de Niemann-Pick Tipo C/genética; Enfermedad de Niemann-Pick Tipo C/metabolismo; Proproteína Convertasa 9/genética; Proproteína Convertasa 9/metabolismo; Animales; Apolipoproteína E2; Cerebelo/metabolismo; Femenino; Masculino; Ratones; Ratones Endogámicos BALB C; Ratones Noqueados; Enfermedades Neurodegenerativas; Proteína Niemann-Pick C1; Células de Purkinje/metabolismo; Receptores de LDL/metabolismo; Proteína Reelina

Palabras clave

ApoER2; NPC1 KO mouse; NiemannPick C; PCSK9; VLDLR; lysosomal storage; neurodegeneration

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Colesterol / Péptidos y Proteínas de Señalización Intracelular / Enfermedad de Niemann-Pick Tipo C / Proproteína Convertasa 9 Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article

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