Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

American Journal of Human Genetics

Volumn 100, Issue 2, 2017, Pages 216-227

  Van Damme, Tim ^a   Gardeitchik, Thatjana ^b   Mohamed, Miski ^b   Guerrero Castillo, Sergio ^b   Freisinger, Peter ^c   Guillemyn, Brecht ^a   Kariminejad, Ariana ^d   Dalloyaux, Daisy ^b   van Kraaij, Sanne ^b   Lefeber, Dirk J ^b   Syx, Delfien ^a   Steyaert, Wouter ^a   De Rycke, Riet ^e,f   Hoischen, Alexander ^b   Kamsteeg, Erik Jan ^b   Wong, Sunnie Y ^g   van Scherpenzeel, Monique ^b   Jamali, Payman ^h   Brandt, Ulrich ^b   Nijtmans, Leo ^b   Korenke, G Christoph ⁱ   Chung, Brian H Y ^j   Mak, Christopher C Y ^j   Hausser, Ingrid ^k   Kornak, Uwe ^l,m   Fischer Zirnsak, Björn ^l,m   Strom, Tim M ⁿ   Meitinger, Thomas ⁿ   Alanay, Yasemin ^o   Utine, Gulen E ^p   Leung, Peter K C ^j   Ghaderi Sohi, Siavash ^d   Coucke, Paul ^a   Symoens, Sofie ^a   De Paepe, Anne ^a   Thiel, Christian ^k   Haack, Tobias B ^n,q,r   Malfait, Fransiska ^a   Morava, Eva ^g,s   Callewaert, Bert ^a   Wevers, Ron A ^b   more..

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Children's Hospital   (Germany)

^d Kariminejad and Najmabadi Pathology and Genetics Center   (Iran)

^e GHENT UNIVERSITY   (Belgium)

^f DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^g TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h Welfare Office   (Iran)

ⁱ KLINIKUM OLDENBURG   (Germany)

^j UNIVERSITY OF HONG KONG   (Hong Kong)

^k UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^l CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^m MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

ⁿ INSTITUTE OF EPIDEMIOLOGY   (Germany)

^o ACIBADEM UNIVERSITY   (Turkey)

^p HACETTEPE UNIVERSITY   (Turkey)

^q TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^r UNIVERSITY OF TÜBINGEN   (Germany)

^s UNIVERSITY HOSPITALS LEUVEN   (Belgium)

more..

Author keywords

ARCL2; ATP6V1A; ATP6V1E1; autosomal recessive; CDG; cellular trafficking; congenital disorder of glycosylation; cutis laxa; Golgi apparatus; V ATPase

Indexed keywords

ADENOSINE TRIPHOSPHATASE; BREFELDIN A; UNCLASSIFIED DRUG; V TYPE PROTON ADENOSINE TRIPHOSPHATASE; ATP6V1A PROTEIN, HUMAN; ATP6V1E2 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ADOLESCENT; ARTICLE; ATP6V1A GENE; ATP6V1E1 GENE; AUTOSOMAL RECESSIVE DISORDER; CELL FUNCTION; CELL MIGRATION; CELL VACUOLE; CHILD; CLINICAL ARTICLE; COLLAGEN FIBER; CUTIS LAXA; ELASTIC FIBER; ENZYME STABILITY; ENZYME STRUCTURE; EXTRACELLULAR MATRIX; FEMALE; FETUS; GEL ELECTROPHORESIS; GLYCOSYLATION; GOLGI COMPLEX; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; LYSOSOME; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN GLYCOSYLATION; SCHOOL CHILD; TRANSMISSION ELECTRON MICROSCOPY; ALLELE; AMINO ACID SEQUENCE; CASE CONTROL STUDY; FIBROBLAST; GENE EXPRESSION REGULATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; METABOLISM; NEWBORN; PEDIGREE; PROTEIN CONFORMATION; PROTEIN TRANSPORT; TANDEM MASS SPECTROMETRY;

ADOLESCENT; ALLELES; AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHILD; CUTIS LAXA; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; GENOME-WIDE ASSOCIATION STUDY; GLYCOSYLATION; GOLGI APPARATUS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; PROTEIN CONFORMATION; PROTEIN TRANSPORT; TANDEM MASS SPECTROMETRY; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 85008429031     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.12.010     Document Type: Article

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