EUGINDAT: European genomics initiative on disorders of plasma membrane amino acid transporters

• Research unit: EU RFP
• Project number: 03.0648-1

Key words (English)

Primary inherited aminoacidurias; amino acid/peptide transporters

Alternative project number (English)

EU project number: 502852

Research programs (English)

EU-programme: 6. Frame Research Programme - 1.1.2a

Short description (English)

See abstract

Further information (English)

Full name of research-institution/enterprise:
Universität Basel
Biozentrum
Maurice E. Müller-Institut für Strukturbiologie

Abstract (English)

Disorders of amino acid transporters of the plasma membrane are rare inherited diseases that result in renal aminoacidurias, which also affect other organs and produce several clinical consequences. This initiative is an integrated approach (genetics, biochemistry, genomics, physiology, structural biology, drug development and clinics) to these diseases cystinuria (CYS), lysinuric protein intolerance (LPI), iminoglycinuria (IG) and dicarboxylic amino aciduria (DC). Four main goals are pursued: I) Identification of new transporter genes (for CYS, IG and DC) and mutational analysis of the affected European population (generation of a European database). 2) Development of new therapies for CYS and LPI. 3) Functional genomics of amino acid and peptide transporters. 4) Structural/functional studies on the amino acid transporters affected in these diseases. The KO mouse models developed here also have a potential impact on nutrition, some forms of cachexia and selected disorders of the central nervous system.

References in databases (English)

Swiss Database: Euro-DB of the
State Secretariat for Education and Research
Hallwylstrasse 4
CH-3003 Berne, Switzerland
Tel. [phone]
Swiss Project-Number: 03.0648-1