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Document type:
journal article 
Author(s):
Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G Christoph; Chung, Brian H Y; Mak, Christopher C Y; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Björn; Strom, Tim...    »
 
Title:
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. 
Abstract:
Defects of the V-type proton (H) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode the E1 and A subunits, respectively, of the V domain of the heteromultimeric V-ATPase comp...    »
 
Journal title abbreviation:
Am J Hum Genet 
Year:
2017 
Journal volume:
100 
Journal issue:
Pages contribution:
216-227 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Institut für Humangenetik