A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Manes, Gaël ^a,b   Cheguru, Pallavi ^c   Majumder, Anurima ^c   Bocquet, Béatrice ^a,b   Sénéchal, Audrey ^a,b   Artemyev, Nikolai O ^c   Hamel, Christian P ^a,b,d   Brabet, Philippe ^a,b  

^a Montpellier University Medical Center   (France)

^b UNIV MONTPELLIER   (France)

^c UNIVERSITY OF IOWA   (United States)

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP; CYSTEINE; PHOSPHODIESTERASE VI; PHOSPHODIESTERASE VI BETA 1 313; PHOSPHODIESTERASE VI GAMMA; TYROSINE; UNCLASSIFIED DRUG; GNAT1 PROTEIN, HUMAN; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT CONGENITAL STATIONARY NIGHT BLINDNESS; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME INHIBITION; FAMILY; FEMALE; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC IDENTIFICATION; HUMAN; MALE; NIGHT BLINDNESS; NONHUMAN; NUCLEOTIDE SEQUENCE; PDE6 BETA GENE; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; RETINA ROD OUTER SEGMENT; TRANSGENIC ANIMAL; XENOPUS LAEVIS; ANIMAL; EYE DISEASES, HEREDITARY; GENETIC DISEASES, X-LINKED; GENETICS; METABOLISM; MUTATION; MYOPIA; PHOTOTRANSDUCTION; PHYSIOLOGY;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; CATALYTIC DOMAIN; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; EYE DISEASES, HEREDITARY; GENETIC DISEASES, X-LINKED; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; LIGHT SIGNAL TRANSDUCTION; MUTATION; MYOPIA; NIGHT BLINDNESS; XENOPUS LAEVIS;

EID: 84899742976     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0095768     Document Type: Article

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