Loss of Cln3 Function in the Social Amoeba Dictyostelium discoideum Causes Pleiotropic Effects That Are Rescued by Human CLN3

by Huber, Robert J., Myre, Michael A., Cotman, Susan L.
Published 2014

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

by Staropoli, John F, Xin, Winnie, Barone, Rosemary, Cotman, Susan L, Sims, Katherine B
Published 2012

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

by Fossale, Elisa, Wolf, Pavlina, Espinola, Janice A, Lubicz-Nawrocka, Tanya, Teed, Allison M, Gao, Hanlin, Rigamonti, Dorotea, Cattaneo, Elena, MacDonald, Marcy E, Cotman, Susan L
Published 2004

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

by 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.
Published 2012