A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

Paton, Leigh; Bitoun, Emmanuelle; Kenyon, Janet; Priestman, David A; Oliver, Peter L; Edwards, Benjamin; Platt, Frances M; Davies, Kay E

Paton, Leigh; Bitoun, Emmanuelle; Kenyon, Janet; Priestman, David A; Oliver, Peter L; Edwards, Benjamin; Platt, Frances M; Davies, Kay E.

Afiliación

Paton L; Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics, University of Oxford, South Parks Road, Oxford OX1 3PT, United Kingdom and.
Bitoun E; Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics, University of Oxford, South Parks Road, Oxford OX1 3PT, United Kingdom and.
Kenyon J; Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics, University of Oxford, South Parks Road, Oxford OX1 3PT, United Kingdom and.
Priestman DA; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, United Kingdom.
Oliver PL; Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics, University of Oxford, South Parks Road, Oxford OX1 3PT, United Kingdom and.
Edwards B; Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics, University of Oxford, South Parks Road, Oxford OX1 3PT, United Kingdom and.
Platt FM; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, United Kingdom.
Davies KE; Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics, University of Oxford, South Parks Road, Oxford OX1 3PT, United Kingdom and. Electronic address: kay.davies@dpag.ox.ac.uk.

J Biol Chem ; 289(39): 26709-26721, 2014 Sep 26.

Article en En | MEDLINE | ID: mdl-25107912

Asunto(s)

Modelos Animales de Enfermedad; Homocigoto; Mucolipidosis; Mutación; Células de Purkinje; Transferasas (Grupos de Otros Fosfatos Sustitutos); 2-Hidroxipropil-beta-Ciclodextrina; Animales; Conducta Animal; Proteínas Portadoras/genética; Proteínas Portadoras/metabolismo; Excipientes/farmacología; Glicoproteínas/genética; Glicoproteínas/metabolismo; Células HEK293; Humanos; Ratones; Ratones Endogámicos BALB C; Ratones Mutantes; Mucolipidosis/enzimología; Mucolipidosis/genética; Mucolipidosis/patología; Enfermedad de Niemann-Pick Tipo C/enzimología; Enfermedad de Niemann-Pick Tipo C/genética; Enfermedad de Niemann-Pick Tipo C/patología; Células de Purkinje/enzimología; Células de Purkinje/patología; Transferasas (Grupos de Otros Fosfatos Sustitutos)/genética; Transferasas (Grupos de Otros Fosfatos Sustitutos)/metabolismo; Proteínas de Transporte Vesicular/genética; Proteínas de Transporte Vesicular/metabolismo; beta-Ciclodextrinas/farmacología

Palabras clave

Ataxia; Drug Action; Lysosomal Storage Disease; Mouse Genetics; Mucolipidosis II; NPC2; Neurodegeneration

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Células de Purkinje / Transferasas (Grupos de Otros Fosfatos Sustitutos) / Modelos Animales de Enfermedad / Homocigoto / Mucolipidosis / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: J Biol Chem Año: 2014 Tipo del documento: Article

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