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Human Molecular Genetics Advance Access originally published online on August 12, 2003
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Human Molecular Genetics, 2003, Vol. 12, Review Issue 2 R195-R200
DOI: 10.1093/hmg/ddg276
© 2003 Oxford University Press

Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system

Florence Molinari1, Virginia Meskanaite2, Arnold Munnich1, Peter Sonderegger2 and Laurence Colleaux1,*

1Département de Génétique et Unité de Recherche sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France and 2Institute of Biochemistry, University of Zurich, CH-8057 Zurich, Switzerland

Received June 27, 2003; Accepted August 7, 2003

Cumulative evidence has shown that a delicate balance between serine proteases and their inhibitors is crucial for normal functioning of several biological pathways. The importance of proteases and their inhibitors is well documented in several human diseases. Among them, the best documented are hemophilia B, a genetic deficiency of the serine protease coagulation factor IX and serpinophathies. Alpha-1-antitrypsin deficiency (MIM 107400), is associated with early-onset emphysema and liver disease, while hereditary angioedema (HANE; MIM 106100) is caused by mutations in the C1 inhibitor, a serpin involved in the regulation of the complement cascade. Recently, two human genetic diseases of the central nervous system have been related to mutations in components of extracellular proteolytic systems. Here, we review the recent advances in this field.

* To whom correspondence should be addressed. Tel: +33 144495161; Fax: +33 147348514; Email: colleaux{at}necker.fr


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