Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of Î³-secretase.

Chau, De-Ming; Crump, Christina J; Villa, Jennifer C; Scheinberg, David A; Li, Yue-Ming

Chau, De-Ming; Crump, Christina J; Villa, Jennifer C; Scheinberg, David A; Li, Yue-Ming.

Afiliación

Chau DM; Molecular Pharmacology and Chemistry Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065 and the Department of Pharmacology, Weill Cornell Graduate School of Medical Sciences of Cornell University, New York, NY 10021.
Crump CJ; Molecular Pharmacology and Chemistry Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065 and the Department of Pharmacology, Weill Cornell Graduate School of Medical Sciences of Cornell University, New York, NY 10021.
Villa JC; Molecular Pharmacology and Chemistry Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065 and the Department of Pharmacology, Weill Cornell Graduate School of Medical Sciences of Cornell University, New York, NY 10021.
Scheinberg DA; Molecular Pharmacology and Chemistry Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065 and the Department of Pharmacology, Weill Cornell Graduate School of Medical Sciences of Cornell University, New York, NY 10021.
Li YM; Molecular Pharmacology and Chemistry Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065 and the Department of Pharmacology, Weill Cornell Graduate School of Medical Sciences of Cornell University, New York, NY 10021. Electronic address: liy2@mskcc.org.

J Biol Chem ; 287(21): 17288-17296, 2012 May 18.

Article en En | MEDLINE | ID: mdl-22461631

Asunto(s)

Enfermedad de Alzheimer/metabolismo; Secretasas de la Proteína Precursora del Amiloide/metabolismo; Enfermedades Genéticas Congénitas/metabolismo; Mutación Missense; Presenilina-1/metabolismo; Enfermedad de Alzheimer/genética; Sustitución de Aminoácidos; Secretasas de la Proteína Precursora del Amiloide/genética; Dominio Catalítico; Enfermedades Genéticas Congénitas/genética; Células HEK293; Humanos; Presenilina-1/genética; Receptor Notch1/genética; Receptor Notch1/metabolismo

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Secretasas de la Proteína Precursora del Amiloide / Presenilina-1 / Enfermedad de Alzheimer / Enfermedades Genéticas Congénitas Límite: Humans Idioma: En Revista: J Biol Chem Año: 2012 Tipo del documento: Article

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