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Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder

Cathepsin D is a ubiquitously expressed lysosomal protease that is involved in proteolytic degradation, cell invasion, and apoptosis. In mice and sheep, cathepsin D deficiency is known to cause a fatal neurodegenerative disease. Here, we report a novel disorder in a child with early blindness and pr...

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Bibliografske podrobnosti
Main Authors: Steinfeld, Robert, Reinhardt, Konstanze, Schreiber, Kathrin, Hillebrand, Merle, Kraetzner, Ralph, Brück, Wolfgang, Saftig, Paul, Gärtner, Jutta
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2006
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1474096/
https://ncbi.nlm.nih.gov/pubmed/16685649
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