Inherited diseases caused by mutations in cathepsin protease genes

Lysosomal cathepsins are proteolytic enzymes increasingly recognized as prognostic markers and potential therapeutic targets in a variety of diseases. In those conditions, the cathepsins are mostly overexpressed, thereby driving the respective pathogenic processes. Although less known, there are als...

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Veröffentlicht in:	The FEBS journal 2017-05, Vol.284 (10), p.1437-1454
Hauptverfasser:	Ketterer, Stephanie, Gomez‐Auli, Alejandro, Hillebrand, Larissa E., Petrera, Agnese, Ketscher, Anett, Reinheckel, Thomas
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Cathepsins Cathepsins - genetics Cathepsins - metabolism Disorders Enzymes galactosialidosis Gene sequencing Genetic disorders Genetics Genomes Hereditary diseases Humans Lysosomal storage diseases Mutation Mutation - genetics myopia neuronal ceroid lipofuscinosis Neuronal Ceroid-Lipofuscinoses - genetics Neuronal Ceroid-Lipofuscinoses - metabolism Papillon-Lefevre Disease - genetics Papillon-Lefevre Disease - metabolism Papillon–Lefèvre syndrome Pathogenesis Protease Proteases Proteinase Proteolysis Proteolytic enzymes pycnodysostosis Pycnodysostosis - genetics Pycnodysostosis - metabolism Substrates
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