A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Nature Communications

Volumn 7, Issue , 2016, Pages

  Stoetzel, Corinne ^a   Bär, Séverine ^a   De Craene, Johan Owen ^a   Scheidecker, Sophie ^a   Etard, Christelle ^a   Chicher, Johana ^c   Reck, Jennifer R ^a   Perrault, Isabelle ^d   Geoffroy, Véronique ^a   Chennen, Kirsley ^a   Strähle, Uwe ^b   Hammann, Philippe ^c   Friant, Sylvie ^a   Dollfus, Hélène ^a,e  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b KARLSRUHE INSTITUTE OF TECHNOLOGY   (Germany)

^c INSTITUT DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^d IMAGINE INSTITUTE   (France)

^e UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; IFT20 PROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHOINOSITIDE 3 KINASE REGULATORY SUBUNIT 4; UNCLASSIFIED DRUG; IFT20 PROTEIN, HUMAN; PIK3R4 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE VPS15;

CELL ORGANELLE; CELLS AND CELL COMPONENTS; CYPRINID; ENZYME ACTIVITY; MUTATION; PHENOTYPE; PROTEIN; YEAST;

ARTICLE; CILIARY PROCESS; CONTROLLED STUDY; ENZYME LOCALIZATION; GENE MUTATION; GOLGI COMPLEX; HUMAN; HUMAN TISSUE; NONHUMAN; SKIN BIOPSY; SKIN FIBROBLAST; YEAST CELL; ADOLESCENT; ANIMAL; CASE CONTROL STUDY; CELL CULTURE; CHILD; CILIOPATHY; CILIUM; COMPLICATION; CRANIOFACIAL MALFORMATION; CYTOLOGY; FEMALE; FIBROBLAST; GENETICS; HAND MALFORMATION; KIDNEY FAILURE; LEARNING DISORDER; MALE; METABOLISM; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; MUTATION; PRESCHOOL CHILD; RETINITIS PIGMENTOSA; SACCHAROMYCES CEREVISIAE; SIBLING; SKIN; YOUNG ADULT; ZEBRA FISH;

DANIO RERIO;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANIMALS; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CILIA; CILIOPATHIES; CRANIOFACIAL ABNORMALITIES; FEMALE; FIBROBLASTS; GOLGI APPARATUS; HAND DEFORMITIES, CONGENITAL; HUMANS; LEARNING DISORDERS; MALE; MUTATION; MUTATION, MISSENSE; RENAL INSUFFICIENCY; RETINITIS PIGMENTOSA; SACCHAROMYCES CEREVISIAE; SIBLINGS; SKIN; VACUOLAR SORTING PROTEIN VPS15; YOUNG ADULT; ZEBRAFISH;

EID: 84997426807     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms13586     Document Type: Article

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