Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Human molecular genetics - 15 Jun 2009
Hucthagowder Vishwanathan, Morava 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
Abstract excerpt
Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and developmental delay and redundant, inelastic skin, is caused by mutations in the a2 subunit of the vesicular ATPase H+-pump (ATP6V0A2). The goal of this study was to define the disease mechanisms that lead to connective tissue lesions in ARCL2. In a new cohort of 17 patients, DNA sequencing of ATP6V0A2 detected either homozygous or compound...
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