Neuronal ceroid lipofuscinosis with DNAJC5/CSP&#945; mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.

Henderson, Michael X; Wirak, Gregory S; Zhang, Yong-Quan; Dai, Feng; Ginsberg, Stephen D; Dolzhanskaya, Natalia; Staropoli, John F; Nijssen, Peter C G; Lam, TuKiet T; Roth, Amy F; Davis, Nicholas G; Dawson, Glyn; Velinov, Milen; Chandra, Sreeganga S

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.

Henderson, Michael X; Wirak, Gregory S; Zhang, Yong-Quan; Dai, Feng; Ginsberg, Stephen D; Dolzhanskaya, Natalia; Staropoli, John F; Nijssen, Peter C G; Lam, TuKiet T; Roth, Amy F; Davis, Nicholas G; Dawson, Glyn; Velinov, Milen; Chandra, Sreeganga S.

Afiliação

Henderson MX; Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University, New Haven, CT, USA.
Wirak GS; Department of Neurology, Yale University, New Haven, CT, USA.
Zhang YQ; Interdepartmental Neuroscience Program, Yale University, New Haven, CT, USA.
Dai F; Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University, New Haven, CT, USA.
Ginsberg SD; Department of Neurology, Yale University, New Haven, CT, USA.
Dolzhanskaya N; Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University, New Haven, CT, USA.
Staropoli JF; Department of Neurology, Yale University, New Haven, CT, USA.
Nijssen PC; Yale Center for Analytical Services, New Haven, CT, USA.
Lam TT; Nathan Kline Institute, Orangeburg, NY, USA.
Roth AF; Departments of Psychiatry and Physiology and Neuroscience, New York University Langone Medical Center, New York, NY, USA.
Davis NG; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Dawson G; Department of Neurology, Center for Human Genetics Research, Massachusetts General Hospital, Boston, MA, USA.
Velinov M; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
Chandra SS; Biogen Idec, Cambridge, MA, 02142, USA.

Acta Neuropathol ; 131(4): 621-37, 2016 Apr.

Article em En | MEDLINE | ID: mdl-26659577

Assuntos

Encéfalo/metabolismo; Proteínas de Choque Térmico HSP40/genética; Proteínas de Membrana/genética; Mutação/genética; Lipofuscinoses Ceroides Neuronais/genética; Lipofuscinoses Ceroides Neuronais/patologia; Tioléster Hidrolases/metabolismo; Animais; Encéfalo/patologia; Células Cultivadas; Córtex Cerebral/citologia; Feminino; Proteínas de Choque Térmico HSP40/deficiência; Humanos; Lipoilação/genética; Lipoilação/fisiologia; Masculino; Proteínas de Membrana/deficiência; Camundongos; Camundongos Knockout; Modelos Biológicos; Neurônios/efeitos dos fármacos; Neurônios/metabolismo; Mapas de Interação de Proteínas; Proteômica; Frações Subcelulares/metabolismo; Frações Subcelulares/patologia; Transfecção

Palavras-chave

Cysteine-string protein alpha (CSPα); Neurodegeneration; Neuronal ceroid lipofuscinosis (NCL); Palmitoyl-protein thioesterase 1 (PPT1); Palmitoylation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tioléster Hidrolases / Encéfalo / Proteínas de Choque Térmico HSP40 / Proteínas de Membrana / Mutação / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Acta Neuropathol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos

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