IndraLab

Statements

AOX4 binds PRPF8. 16 / 16
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"PRPF31 expression showed no significant difference among the control, PRPF8-IM, and patient groups ( xref B, xref C)."
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"In contrast, pigmentation was decreased, and cell morphology appeared irregular in both the patient and PRPF8-IM groups ( xref A)."
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"5792C>T mutation (in both the patient and PRPF8-IM groups) leads to RPE abnormalities resembling the pathological features of RP."
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"To eliminate confounding background genetic variation, we generated an induced mutation iPSC line by introducing the same PRPF8 patient heterozygous mutation into control iPSCs using CRISPR/Cas9, as in our previous study. xref This cell line (PRPF8-IM) also shows significant downregulation of PRPF8 expression at both the mRNA ( P < 0.01) ( xref D) and protein ( P < 0.05) levels ( xref E; xref C)."
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"Immunofluorescence staining for the tight-junction protein ZO-1 further confirmed that the patient and PRPF8-IM RPE cells had disorganized cell borders and irregular shapes."
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"The mean cell area was 193.4 ± 104.6 µm 2 in the control group ( n = 46), 184.0 ± 122.4 µm 2 in the PRPF8-IM group ( n = 50), and 186.4 ± 81.56 µm 2 in the patient group ( n = 47) ( xref A)."
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"In contrast, patient and PRPF8-IM RPE registered 185.4 ± 21.3 Ω·cm 2 and 172.7 ± 26.4 Ω·cm 2 (both n  = 3, P < 0.01) ( xref A), To further assess the polarized RPE monolayer, the secretions of PEDF from the apical side and VEGF from the basal side were quantified."
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"ELISA analysis revealed that the secretion levels of PDGF and VEGF proteins in the control-RPE group were lower compared to those in the patient and PRPF8-IM RPE groups (PDGF, P < 0.05; VEGF, P < 0.01) ( xref B,  xref C)."
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"In contrast, low-magnification images of patient and PRPF8-IM RPE showed irregular cellular morphology and enlarged junctional gaps, and high-magnification images revealed a paucity of microvilli ( xref D)."
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"Both iPSC lines (patient, PRPF8-IM) exhibited significant PRPF8 downregulation at the mRNA and protein levels, providing an in vitro platform to study its pathology."
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"The FF in control-RPE cells (0.817 ± 0.074) was significantly higher than in the patient (0.674 ± 0.174; P < 0.01) and PRPF8-IM (0.682 ± 0.119; P < 0.01) RPE cells, indicating that the control group more closely resembled the hexagonal structure of healthy RPE ( xref C)."
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"At the same time, it was reduced in the patient-RPE group and the PRPF8-IM group ( xref xref xref xref – xref D)."
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"All of the iPSCs were differentiated into RPE cells following a previously reported protocol. xref Control, patient, and PRPF8-IM iPSC lines were cultured for the same duration."
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"We then labeled RPE cilia with ARL13B, revealing a reduced cilia incidence and length of cilia in the patient group (incidence P < 0.001; length P < 0.001) and PRPF8-IM group (incidence P < 0.005; length P < 0.001) ( xref E,  xref G,  xref H), and used transmission electron microscopy (TEM) to examine RPE ultrastructure, which showed fewer melanosome in patient and PRPF8-IM RPE cells ( P < 0.01) ( xref F,  xref I)."
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"Meanwhile, western blot analysis demonstrated a significant reduction in PRPF8 protein expression in both patient and PRPF8-IM RPE cells ( P < 0.001) ( xref D,  xref E)."
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"To assess reversal of ultrastructural defects, TEM was used to examine the ultrastructure of RPE cells from the control, patient, PRPF8-IM, and patient-ABE groups."
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