Concepedia

A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis

Tomoyuki Awano, Martin L. Katz, Dennis P. O’Brien, István Sohár, Peter Lobel, Joan R. Coates, Shahnawaz Khan, Gayle C. Johnson, Gayle C. Johnson, Urs Giger,

Molecular Genetics and Metabolism · 2006 · 124 citations · 23 references

DOI

Concepts

References

23

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Jouni Vesa, Elina Hellsten, Linda A. Verkruyse et al. · Nature · 1995 · 740 citations

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Isolation of a novel gene underlying batten disease, CLN3

Terry J. Lerner, Rose‐Mary Boustany, John W. Anderson et al. · Cell · 1995 · 602 citations · Full text

, , +3

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

, , +15

Cathepsin D Deficiency Induces Lysosomal Storage with Ceroid Lipofuscin in Mouse CNS Neurons

Masato Koike, Hiroshi Nakanishi, Paul Säftig et al. · Journal of Neuroscience · 2000 · 393 citations · Full text

, , +14

Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration

Dagmar Kasper, Rosa Planells‐Cases, Jens C. Fuhrmann et al. · The EMBO Journal · 2005 · 365 citations · Full text

, , +14