FIGURE

Fig. 5

ID

ZDB-FIG-220818-8

Publication

Volpatti et al., 2022 - X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

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Fig. 5

TGF beta signalling is altered in Mtm1 KO mice and improved with VPA. a, b Heat maps showing expression changes (as determined with RNA sequencing) in AP-1 pathway genes in mtm zebrafish and Mtm1 KO mice, respectively. c p-SMAD 2/3 immunofluorescence on tibialis anterior muscle at 35 days of age. d Quantification of p-SMAD 2/3 immunostaining. An increased proportion of myofibers with nuclear p-SMAD is observed in Mtm1 KO mice. Values are Mean?�?SEM. p-SMAD2/3 fraction of positive nuclei (WT?+?PBS &KO?+?PBS n?=?6, WT?+?VPA?n?=?5, KO?+?VPA n?=?7). PBS treated Mtm1?=?11?�?1 vs PBS treated WT?=?1.7?�?0.8, (****p?<?0.0001) vs VPA treated Mtm1 KOs?=?1.6?�?0.95 (****p?<?0.0001) vs VPA treated WTs?=?1.0?�?0.45 (****p?<?0.0001). Note that staining was confirmed to be within myofibers using double IIF with anti-dystrophin. e Heat map showing expression changes in follistatin interacting gene products in Mtm1 KO mice. For all heat maps, grey indicates genes that did not meet cut-offs (p_adj?<?0.01), and crossed boxes show genes that were not detected. Statistical analysis by one-way ANOVA using Dunnett's multiple comparisons test. Scale bar?=?20 ?m

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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