Concepedia

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

Karen Fritchie, Eija Siintola, Diane Armao, Anna-Elina Lehesjoki, Thomas A. Marino, Cynthia M. Powell, Michael B. Tennison, Jessica Booker, Sabine Koch, Sanna Partanen,

Acta Neuropathologica · 2008 · 78 citations · 14 references

DOI

Concepts

References

14

Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells.

Paul Säftig, Michal Hetman, Wolfgang W. Schmahl et al. · The EMBO Journal · 1995 · 442 citations · Full text

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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

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Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

Eija Siintola · Brain · 2006 · 392 citations · Full text

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Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder

Robert Steinfeld, K Reinhardt, Kathrin Schreiber et al. · The American Journal of Human Genetics · 2006 · 301 citations · Full text

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A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

The EMBO Journal · 2000 · 243 citations · Full text

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