A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Human Mutation

Volumn 35, Issue 1, 2014, Pages 137-146

  Thomas, Sophie ^a,b   Wright, Kevin J ^c,o   Corre, Stéphanie Le ^d   Micalizzi, Alessia ^e,f   Romani, Marta ^e   Abhyankar, Avinash ^g   Saada, Julien ^h   Perrault, Isabelle ^a,b   Amiel, Jeanne ^a,b   Litzler, Julie ^a   Filhol, Emilie ^a,b   Elkhartoufi, Nadia ^a   Kwong, Mandy ^c   Casanova, Jean Laurent ^b,g,i   Boddaert, Nathalie ^a,b   Baehr, Wolfgang ^j   Lyonnet, Stanislas ^a,b   Munnich, Arnold ^a,b   Burglen, Lydie ^k   Chassaing, Nicolas ^l   Encha Ravazi, Ferechté ^a,b   Vekemans, Michel ^a,b   Gleeson, Joseph G ^m   Valente, Enza Maria ^e   Jackson, Peter K ^c,o   Drummond, Iain A ^d,n   Saunier, Sophie ^a,b   Attié Bitach, Tania ^a,b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c GENENTECH INC   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e Polo Friuli Venezia Giulia   (Italy)

^f UNIVERSITY OF MESSINA   (Italy)

^g ROCKEFELLER UNIVERSITY   (United States)

^h HÔPITAL ANTOINE BÉCLÈRE   (France)

ⁱ IMAGINE INSTITUTE   (France)

^j UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^k ARMAND TROUSSEAU HOSPITAL   (France)

^l TOULOUSE UNIVERSITY HOSPITAL   (France)

^m HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁿ HARVARD MEDICAL SCHOOL   (United States)

^o STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

INPP5E; Joubert syndrome; PDE6D; Prenylation; Primary cilia

Indexed keywords

GENOMIC DNA; INPP5E PROTEIN; PDE6D PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; CLINICAL ARTICLE; COMPUTER PROGRAM; CONTROLLED STUDY; DELETION MUTANT; DNA MICROARRAY; EMBRYO; EUKARYOTIC FLAGELLUM; FEMALE; FETUS; FIBROBLAST; GENE MUTATION; GENE TARGETING; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; JOUBERT SYNDROME; KIDNEY MALFORMATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PRENYLATION; PROTEOMICS; RETINA DISEASE; WILD TYPE; ZEBRA FISH;

DANIO RERIO;

ADP-RIBOSYLATION FACTORS; ANIMALS; CEREBELLAR DISEASES; CILIA; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; EXOME; EYE ABNORMALITIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; MODELS, MOLECULAR; PEDIGREE; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN PRENYLATION; PROTEOMICS; RETINA; SEQUENCE ANALYSIS, DNA; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84890805553     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22470     Document Type: Article

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