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Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.

Archive ouverte | Ruivo, Raquel | CCSD

International audience. BACKGROUND INFORMATION: Free sialic acid storage diseases are caused by mutations of a lysosomal sialic acid transporter called sialin. We showed recently that the milder clinical form, Salla...

Molecular and cellular basis of lysosomal transmembrane protein dysfunction.

Archive ouverte | Ruivo, Raquel | CCSD

International audience. Lysosomal membrane proteins act at several crucial steps of the lysosome life cycle, including lumen acidification, metabolite export, molecular motor recruitment and fusion with other organe...

Identification and characterization of a new cationic amino acid transporter named PQ-Loop-Containing protein 2 (PQLC2)

Archive ouverte | Jezegou, Adrien | CCSD

International audience. Cystinosin, the lysosomal cystine exporter defective in cystinosis, is the founding member of a 7-TM membrane protein family related to bacteriorhodopsin and characterized by a duplicat...

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