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. 2021 Dec 2;11(12):1277. doi: 10.3390/jpm11121277

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© 2021 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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(A) Immunoblot analysis of total cell lysate from proband and two control fibroblasts using antibodies against SLC25A46 (46 kDa) and tubulin (55 kDa) as loading control. (B) Quantification of protein levels normalized to tubulin, *** p < 0.001. (C) Representative immunostaining images of Mitotracker (red) staining in control and proband fibroblasts. Insert plot is the magnified figure indicated by the white square. Arrow indicates the mitochondrial fragmentation in the proband cells. Scale bar=20 um. (D) Quantification of the mitochondrial fragmentation in fibroblast cells (** p < 0.001, *** p < 0.001, each group counts over 50 cells), compared to control.