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

Vishwanathan Hucthagowder, Eva Morava-Kozicz, 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

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73 Scopus citations
Original languageEnglish (US)
Pages (from-to)2149-2165
Number of pages17
JournalHuman Molecular Genetics
Volume18
Issue number12
DOIs
StatePublished - Jun 4 2009
Externally publishedYes

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. / Hucthagowder, Vishwanathan; Morava-Kozicz, Eva; Kornak, Uwe; Lefeber, Dirk J.; Fischer, Björn; Dimopoulou, Aikaterini; Aldinger, Annika; Choi, Jiwon; Davis, Elaine C.; Abuelo, Dianne N.; Adamowicz, Maciej; Al-Aama, Jumana; Basel-Vanagaite, Lina; Fernandez, Bridget; Greally, Marie T.; Gillessen-Kaesbach, Gabriele; Kayserili, Hulya; Lemyre, Emmanuelle; Tekin, Mustafa; Türkmen, Seval; Tuysuz, Beyhan; Yüksel-Konuk, Berrin; Mundlos, Stefan; Van Maldergem, Lionel; Wevers, Ron A.; Urban, Zsolt.

In: Human Molecular Genetics, Vol. 18, No. 12, 04.06.2009, p. 2149-2165.

Research output: Contribution to journalArticle