Lysosomal cysteine protease deficiencies

Definition

Defects in lysosomal cysteine proteases (Cathepsins) are autosomal recessive lysosomal storage diseases. To date only following two human cathepsin deficiencies have been described, though there are eleven lysosomal cysteine proteases. Deficiency of cathepsin C leads to Papillon-Lefevre syndrome characterized by palmoplantar hyperkeratosis and severe early onset periodontitis. Deficiency of cathepsin K leads to pycnodysostosis characterized by osteosclerosis and short stature. Recent findings suggest a more expanded role for cathepsins in human biology.

References:

[1]. Bryan Winchester, et al. Lysosomal metabolism of glycoproteins. Glycobiology. 2005 Jun;15(6):1R-15R. [Content Brief]

[2]. H A Chapman, et al. Emerging roles for cysteine proteases in human biology. Annu Rev Physiol. 1997;59:63-88. [Content Brief]

[3]. Koji Nakajima, et al. Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients. Dermatology. 2008;217(1):58-62. [Content Brief]

[4]. Qingxiao Zhao, et al. Cathepsin K: a therapeutic target for bone diseases. Biochem Biophys Res Commun. 2009 Mar 20;380(4):721-3. [Content Brief]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

お名前
メール *

	Sorry, but the email address you supplied was invalid.