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Titel:

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
Staropoli, JF; Haliw, L; Biswas, S; Garrett, L; Hölter, SM; Becker, L; Skosyrski, S; Da Silva-Buttkus, P; Calzada-Wack, J; Neff, F; Rathkolb, B; Rozman, J; Schrewe, A; Adler, T; Puk, O; Sun, M; Favor, J; Racz, I; Bekeredjian, R; Busch, DH; Graw, J; Klingenspor, M; Klopstock, T; Wolf, E; Wurst, W; Zimmer, A; López, E; Harati, H; Hill, E; Krause, DS; Guide, J; Dragileva, E; Gale, E; Wheeler, VC; Boustany, RM; Brown, DE; Breton, S; Ruether, K; Gailus-Durner, V; Fuchs, H; de Angelis, MH; Cotman, SL
Abstract:
Cln3(?ex7/8) 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 mutation, we performed a broad phenotyping study of Cln3(?ex7/8) mice. Homozygous Cln3(?ex7/8) mice, congenic on a C57BL/6N background, displayed subtle deficits in sensory and motor tasks at 10-14 weeks...     »
Zeitschriftentitel:
PLoS ONE
Jahr:
2012
Band / Volume:
7
Heft / Issue:
6
Seitenangaben Beitrag:
e38310
Sprache:
eng
Volltext / DOI:
doi:10.1371/journal.pone.0038310
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/22701626
Print-ISSN:
1932-6203
TUM Einrichtung:
Institut für Medizinische Mikrobiologie, Immunologie und Hygiene
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