Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer, Aikaterini Dimopoulou, Annika Aldinger, Jiwon Choi, Elaine C. Davis, Dianne N. Abuelo, Maciej Adamowicz, Jumana Al-Aama, Lina Basel-Vanagaite, Bridget Fernandez, Marie T. Greally, Gabriele Gillessen-Kaesbach, Hulya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval TürkmenBeyhan Tuysuz, Berrin Yüksel-Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, Zsolt Urban*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

101 Scopus citations

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Medicine & Life Sciences