Inherited diseases caused by mutations in cathepsin protease genes.

Ketterer, Stephanie; Gomez-Auli, Alejandro; Hillebrand, Larissa E; Petrera, Agnese; Ketscher, Anett; Reinheckel, Thomas

Ketterer, Stephanie; Gomez-Auli, Alejandro; Hillebrand, Larissa E; Petrera, Agnese; Ketscher, Anett; Reinheckel, Thomas.

Afiliação

Ketterer S; Medical Faculty, Institute of Molecular Medicine and Cell Research, Albert-Ludwigs-University Freiburg, Germany.
Gomez-Auli A; Faculty of Biology, Albert-Ludwigs-University Freiburg, Germany.
Hillebrand LE; Medical Faculty, Institute of Molecular Medicine and Cell Research, Albert-Ludwigs-University Freiburg, Germany.
Petrera A; Faculty of Biology, Albert-Ludwigs-University Freiburg, Germany.
Ketscher A; Spemann Graduate School of Biology and Medicine (SGBM), Albert-Ludwigs-University Freiburg, Germany.
Reinheckel T; Medical Faculty, Institute of Molecular Medicine and Cell Research, Albert-Ludwigs-University Freiburg, Germany.

FEBS J ; 284(10): 1437-1454, 2017 05.

Article em En | MEDLINE | ID: mdl-27926992

Assuntos

Catepsinas/metabolismo; Animais; Catepsinas/genética; Humanos; Mutação/genética; Lipofuscinoses Ceroides Neuronais/genética; Lipofuscinoses Ceroides Neuronais/metabolismo; Doença de Papillon-Lefevre/genética; Doença de Papillon-Lefevre/metabolismo; Picnodisostose/genética; Picnodisostose/metabolismo

Palavras-chave

Papillon-Lefèvre syndrome; galactosialidosis; myopia; neuronal ceroid lipofuscinosis; pycnodysostosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catepsinas Limite: Animals / Humans Idioma: En Revista: FEBS J Assunto da revista: BIOQUIMICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha

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