Faculty > Susan Cotman    
       

Susan Cotman, Ph.D

Selected Publications

Gao H, Boustany R-M, Espinola J, Cotman S, Antonellis K, Gillis T, Qin X, Liu S, Donahue L-R, Bronson R, Faust J, Stout D, Haines J, Lerner T, MacDonald M. Mutations in a novel CLN6-encoded transmembrane protein causes variant neuronal ceroid lipofuscinosis in man and mouse. American Journal of Human Genetics 2002; 70:324-335.

 
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Cotman S, Vrbanac V, Lebel L-A, Lee R, Johnson K, Donahue L-R, Teed A, Antonellis K, Bronson R, Lerner T, MacDonald M. Cln3∆ex7/8 knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Human Molecular Genetics 2002; 11:2709-2721.

Fossale E, Wolf P, Espinola J, Lubicz-Nawrocka T, Teed A, Gao H, Rigamonti D, Cattaneo E, MacDonald M, Cotman S. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neuroscience 2004; 5:57.

Pontikis C, Cotman S, MacDonald M, Cooper J. Thalamocortical neuron loss and localized astrocytosis in the Cln3∆ex7/8 knock-in mouse model of Batten disease. Neurobiology of Disease, 2005; 3:823-836.