Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1.

Martin, Kyle B; Williams, Ian M; Cluzeau, Celine V; Cougnoux, Antony; Dale, Ryan K; Iben, James R; Cawley, Niamh X; Wassif, Christopher A; Porter, Forbes D

Martin, Kyle B; Williams, Ian M; Cluzeau, Celine V; Cougnoux, Antony; Dale, Ryan K; Iben, James R; Cawley, Niamh X; Wassif, Christopher A; Porter, Forbes D.

Afiliação

Martin KB; 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.
Williams IM; 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.
Cluzeau CV; 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.
Cougnoux A; 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.
Dale RK; Bioinformatics and Scientific Programming Core, 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.
Iben JR; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
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.
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(1)2019 Dec 31.

Article em En | MEDLINE | ID: mdl-31906248

Assuntos

Cerebelo; Regulação da Expressão Gênica; Doença de Niemann-Pick Tipo C/metabolismo; Células de Purkinje; Animais; Cerebelo/metabolismo; Cerebelo/patologia; Modelos Animais de Doenças; Camundongos; Camundongos Knockout; Doença de Niemann-Pick Tipo C/genética; Doença de Niemann-Pick Tipo C/patologia; Células de Purkinje/metabolismo; Células de Purkinje/patologia

Palavras-chave

NPC1; NiemannPick disease; Purkinje neurons; RNA-seq; WGCNA; cerebellum; neurodegeneration; type C1

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células de Purkinje / Cerebelo / Regulação da Expressão Gênica / Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Animals Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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