Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
about
The Role of RPGR and Its Interacting Proteins in CiliopathiesMutations in POMGNT1 cause non-syndromic retinitis pigmentosaOFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration ModelsAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesRPGR: Its role in photoreceptor physiology, human disease, and future therapies.Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosaAAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosaPhotoreceptor outer segment as a sink for membrane proteins: hypothesis and implications in retinal ciliopathies.Mouse models of human ocular disease for translational research.Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish.Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance.Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.
P2860
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P2860
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
description
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Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@ast
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@en
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@en-gb
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@nl
type
label
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@ast
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@en
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@en-gb
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@nl
prefLabel
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@ast
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@en
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@en-gb
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@nl
P2093
P2860
P921
P3181
P356
P1476
Spata7 is a retinal ciliopathy ...... tein trafficking in the retina
@en
P2093
Aiden Eblimit
David L Simons
David S Williams
Graeme Mardon
Jeroen Van Reeuwijk
Julian Esteve-Rudd
Keqing Wang
P2860
P304
P3181
P356
10.1093/HMG/DDU573
P407
P577
2015-03-15T00:00:00Z