IndraLab

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PRPF8 activates MT-ATP6. 5 / 5
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"Thus, myelinosomes called “membrane swirls” were found in cone photoreceptors of a rodent model of RP caused by the mutation in PRPC8 gene (encoding the pre-mRNA processing factor 8 that is the homolog of yeast Prp8) (To et al., 2004)."
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"Interestingly , while Snu114p / EFTUD2 interacts with both Brr2p / SNRNP200 and Prp8p / PRPF8 , EFTUD2 is associated with a craniofacial phenotype while SNRNP200 and PRPF8 both cause RP ( Figure 1 ) ."
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"The spliceosome is composed of 5 small nuclear RNAs (snRNAs), U1–U5, and many proteins including pre-mRNA splicing factors PRPF3, PRPF4, PRPF6, PRPF8, and SNRNP200, all of which are also genetic causes of RP (Ruzickova and Stanek, 2016)."
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"Several of the RP-causing PRPF8 missense mutations have been recapitulated in model organisms."
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"PRPF8-mediated RP is a result of ciliary dysfunctioning."
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