IndraLab

Statements

PRPF8 activates PLIN2. 4 / 4
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"PRPF8 C-terminal mutations cause an early onset and severe form of adRP, and structural analysis of this region shows that it inserts into the RNA binding tunnel of the SNRNP200 helicase."
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"In addition, both truncation and missense mutations in PRPF8 have been reported to cause adRP, but the pathogenicity of missense mutations in PRPF8 is suspicious in some cases since missense variants in PRPF8 are common based on the gnomAD database; rare damaging variants in PRPF8 had a sum allele frequency of 2.17 × 10 (614/282896), which is higher than the prevalence of RP (1/3000)."
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"Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population."
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"Relevant to both these interpretations is the observation that adRP linked to chromosome 17p is caused by mutations in PRPC8 (McKie et al., 2001), the human ortholog of yeast splicing factor Prp8p (Br[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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