Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis

Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

David E. Sleat, Robert Donnelly, Henry Lackland et al. · Science · 1997 · 583 citations

Life Sciences, Genetics, Neuroscience +15

Expression of Cre recombinase in mouse oocytes: A means to study maternal effect genes

Wilhelmine N. de Vries, Lorraine T. Binns, Karen Fancher et al. · genesis · 2000 · 374 citations · Full text

Life Sciences, Developmental Biology, Genetics +16

Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

P. Leinekugel, Sylvie Michel, Ernst Conzelmann et al. · Human Genetics · 1992 · 329 citations

Life Sciences, Biochemistry, Molecular Biology +15

Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder

David E. Sleat, Rosalie M. Gin, István Sohár et al. · The American Journal of Human Genetics · 1999 · 180 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Viable Mouse Models of Acid β-Glucosidase Deficiency

Brian Quinn, David P. Witte, Gregory A. Grabowski · American Journal Of Pathology · 2003 · 178 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12