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this is the first phenotypic description of arRP due to homozygous IVS6+1G>A mutations in PDE6A and these seem here to be associated with severe RP leading to early extinction of rod responses as well as reduced macular function.
report two splice acceptor site variations in PDE6A in consanguineous Pakistani families who manifested cardinal (show CARD8 ELISA Kits) symptoms of autosomal recessive retinitis pigmentosa
analysis of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 (show PDE5A ELISA Kits) and PDE6
the p.Val685Met mutation in PDE6A causes retinal degeneration in humans
Rod phosphodiesterase-6 PDE6A and PDE6B (show PDE6B ELISA Kits) subunits are enzymatically equivalent.
full transcriptional activity of the PDE6A gene requires both Nrl (show NRL ELISA Kits) and Crx (show CRX ELISA Kits)
Study confirms the severity of different Pde6a mutations and indicates that compound heterozygous mutants behave like intermediates of the respective homozygous situations homologous to a case of human retinitis pigmentosa.
A new mutation in Pde6a was identifies in a mouse model of retinal degeneration.
cGMP-phosphodiesterase 6 can be activated by another cancer-retina antigen, transducin (show GNAT1 ELISA Kits), through Wnt5a (show WNT5A ELISA Kits)-Frizzled-2 (show FZD2 ELISA Kits) cascade, which leads to a lowering of cGMP and an increase in intracellular calcium mobilization.
AIPL1 (show AIPL1 ELISA Kits) interacts with the catalytic subunit (alpha) of PDE6 and is needed for the assembly of functional rod PDE6 subunits.
missense mutations were found in the catalytic domain of the Pde6a gene in two mouse models from an ethyl nitrosourea chemical mutagenesis screen.
This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa.
, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
, phosphodiesterase 6A, alpha subunit
, phosphodiesterase 6A, cGMP-specific, rod, alpha
, phosphodiesterase 6A-like
, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha-like
, GMP-PDE alpha
, PDE V-B1
, phosphodiesterase, cyclic GMP (rod receptor), alpha polypeptide
, cGMP phosphodiesterase alpha subunit
, rod photoreceptor cGMP phosphodiesterase alpha subunit
, cGMP phosphodiesterase alpha
, cGMP-phosphodiesterase alpha-subunit