GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting

Journal of Investigative Dermatology

Volumn 135, Issue 10, 2015, Pages 2368-2376

  Egerer, Johannes ^a,b   Emmerich, Denise ^a,b   Fischer Zirnsak, Björn ^a,b   Chan, Wing Lee ^a,b   Meierhofer, David ^b   Tuysuz, Beyhan ^c   Marschner, Katrin ^a   Sauer, Sascha ^b   Barr, Francis A ^d   Mundlos, Stefan ^a,b   Kornak, Uwe ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c ISTANBUL UNIVERSITY   (Turkey)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR 5; AMINO ACID; GUANOSINE TRIPHOSPHATASE; NOCODAZOLE; RAS PROTEIN; RAS RELATED IN BRAIN 6; UNCLASSIFIED DRUG; ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR; ARF5 PROTEIN, HUMAN; PROTEIN BINDING; RAB PROTEIN; RAB6 PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CELL COMPARTMENTALIZATION; CELLULAR DISTRIBUTION; FEMALE; GENE; GENE DISRUPTION; GENETIC DISORDER; GERODERMIA OSTEODYSPLASTICA; GOLGI COMPLEX; GOLGI MEMBRANE; GORAB GENE; HUMAN; HUMAN CELL; MEMBRANE STRUCTURE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PROTEIN INTERACTION; SKIN DISEASE; BONE DISEASES; CELL CULTURE; DWARFISM; FIBROBLAST; GENETIC TRANSFECTION; GENETICS; HELA CELL LINE; METABOLISM; PATHOPHYSIOLOGY; SENSITIVITY AND SPECIFICITY;

ADP-RIBOSYLATION FACTORS; BONE DISEASES; CELLS, CULTURED; DWARFISM; FIBROBLASTS; GOLGI APPARATUS; HELA CELLS; HUMANS; MUTATION, MISSENSE; PROTEIN BINDING; RAB GTP-BINDING PROTEINS; SENSITIVITY AND SPECIFICITY; SKIN DISEASES, GENETIC; TRANSFECTION;

EID: 84941413124     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2015.192     Document Type: Article

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