Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System

Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly investigate the manifestations of the common JNCL muta...

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Detalles Bibliográficos
Autores principales: Staropoli, John F., Haliw, Larissa, Biswas, Sunita, Garrett, Lillian, Hölter, Sabine M., Becker, Lore, Skosyrski, Sergej, Da Silva-Buttkus, Patricia, Calzada-Wack, Julia, Neff, Frauke, Rathkolb, Birgit, Rozman, Jan, Schrewe, Anja, Adler, Thure, Puk, Oliver, Sun, Minxuan, Favor, Jack, Racz, Ildikó, Bekeredjian, Raffi, Busch, Dirk H., Graw, Jochen, Klingenspor, Martin, Klopstock, Thomas, Wolf, Eckhard, Wurst, Wolfgang, Zimmer, Andreas, Lopez, Edith, Harati, Hayat, Hill, Eric, Krause, Daniela S., Guide, Jolene, Dragileva, Ella, Gale, Evan, Wheeler, Vanessa C., Boustany, Rose-Mary, Brown, Diane E., Breton, Sylvie, Ruether, Klaus, Gailus-Durner, Valérie, Fuchs, Helmut, de Angelis, Martin Hrabě, Cotman, Susan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3368842/
https://www.ncbi.nlm.nih.gov/pubmed/22701626
http://dx.doi.org/10.1371/journal.pone.0038310

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