Peroxisomal biogenesis deficiency in skin fibroblasts from a patient with PEX14 mutation. Peroxisomal biogenesis deficiency in skin fibroblasts from a.

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Peroxisomal biogenesis deficiency in skin fibroblasts from a patient with PEX14 mutation. Peroxisomal biogenesis deficiency in skin fibroblasts from a patient with PEX14 mutation. (A) Peroxisomal proteins were analyzed by Western blotting. A truncated form of Pex14p was detected by immunoblotting with an anti-Pex14pN antibody of the cell lysate of fibroblasts from a patient with a PEX14 mutation (Q185X, left panel, arrowhead). The full-length Pex14p was undetectable with an anti-Pex14pC antibody (middle panel). Peroxisomal protein import was assessed by immunoblotting with antibodies to AOx and ADAPS (right panels). Intraperoxisomal conversion of AOx A-chain to B-chain and C-chain and processing from a larger precursor to mature ADAPS were impaired in the patient-derived cells. Dot, a non-specific band. (B) Fibroblasts were stained with antibodies to PTS1, catalase, and PMP70. The catalase was diffused throughout the cytosol, and the fluorescence intensity of PTS1 was reduced in the fibroblasts from the patient. In addition, a smaller number of enlarged puncta labeled with the anti-PMP70 antibody were detected, suggesting that peroxisomal matrix protein import was partially defective. Scale bar, 10 μm. (C–E) VLCPC (C), PlsEtn (D), and DHA-PLs (E) of total phospholipids in skin fibroblasts were quantified by LC-ESI-MS/MS analysis and shown as the levels relative to those of control fibroblast (n = 3). VLCPC was elevated in the fibroblasts from the patient, whereas the reduced levels of PlsEtn and DHA-PLs were milder than those observed in fibroblasts obtained from patients with ZS. ***P < 0.001, by t test compared with control fibroblasts (C–E). Source data are available for this figure. Yuichi Abe et al. LSA 2018;1:e201800062 © 2018 Abe et al.