FIGURE

Figure 6

ID

ZDB-FIG-250204-100

Publication

Falabella et al., 2024 - Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

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Figure 6

PTPMT1 expression and mitochondrial morphology in complemented patient-derived fibroblasts. (A) Representative confocal images of mitochondrial morphology and PTPMT1 expression in a healthy control (CTR1), Subject S1 (S1) and Subject S2 (S2) before and after transduction with pLenti6.3/V5-DEST-GFP (empty vector, EV) or pLenti6.3/V5-DEST vector expressing wild-type PTPMT1. Mitochondria and PTPMT1 were labelled with anti-TOMM20 and anti-PTPMT1 antibodies, respectively. Scale bar = 10 μm. (B) Quantification of mitochondrial morphology related to A. (C and D) Quantification of mitochondrial length (C) and area (D) per region of interest (ROI) (225 µm²) from B. Data are expressed as mean ± standard deviation; n = 4 independent experiments. B: Two-way ANOVA, Tukey’s multiple comparison test; C and D: unpaired Mann–Whitney U-test (two-tailed). *P < 0.05, **P < 0.01, ***P < 0.001.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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