Journal: medRxiv

Article Title: Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

doi: 10.1101/2025.11.16.25339042

Figure Lengend Snippet: Fibroblasts with a frameshift variant exhibit MAU2 haploinsufficiency. (A-D) Quantification of MAU2 and NIPBL transcript levels by qPCR. In all panels, data from five unrelated healthy controls are represented in grey, samples harboring the frameshift variant p.(Gln135Argfs*32) are shown in red, and Patient 1 with the in-frame variant known to disrupt NIPBL interaction (p.(Gln310_Ala316del)) is shown in blue. Six independent experiments were performed, with two technical replicates per RNA preparation (error bars +/− S.D., Mann-Whitney U test followed by Bonferroni Correction for multiple comparisons, * p ≤ 0.05, ** p ≤ 0.01, *** p ≤ 0.001). (A) MAU2 transcript levels normalized to NADH . (B) MAU2 transcript levels normalized to GAPDH . (C) NIPBL transcript levels normalized to NADH . (D) NIPBL transcript levels normalized to GAPDH . (E) Quantification of MAU2 and NIPBL protein levels by Western Blot. Protein levels were assessed in two healthy controls (Ctrl 1 and Ctrl 2), Patient 14 and her father ( MAU2 frameshift variant), and in Patient 1 ( MAU2 in-frame deletion). The membranes were cut to allow all three proteins (NIPBL, MAU2, and the loading control Actinin) to be visualized from a single blot.

Article Snippet: The following primary antibodies were used for detection: MAU2 (1:1000; ab183033, Abcam), Actinin (1:1000; sc-17829, Santa Cruz Biotechnology), and NIPBL (1:500; KT54, Absea).

Techniques: Variant Assay, MANN-WHITNEY, Western Blot, Control

Journal: Skeletal muscle

Article Title: Rapid restitution of contractile dysfunction by synthetic copolymers in dystrophin-deficient single live skeletal muscle fibers.

doi: 10.1186/s13395-023-00318-y

Figure Lengend Snippet: Fig. 1 Immunofluorescence images of mouse flexor digitorum brevis (FDB) fibers (purple = α-actinin). A Isolated FDB fibers at low magnification. (scale bar = 500 μm). B Immunofluorescence image of isolated FDB fibers at high magnification by confocal microscopy (scale bar = 20 μm)

Article Snippet: After washing with PBS 2 × 5 min, we blocked the samples with PBS containing 5% bovine serum albumin (A9647, Sigma-Aldrich) and 0.5% Triton X-100 for 1 h. We probed the coverslips with a primary antibody for α-actinin (32,462, 1:500, Novus) for 1 h at room temperature.

Techniques: Immunofluorescence, Isolation, Confocal Microscopy