FIGURE
Fig. 4
- ID
- ZDB-FIG-230114-12
- Publication
- Gangfuß et al., 2021 - Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
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Fig. 4
Immunological studies on WASHC4 patient-derived quadriceps muscle. (A) Immunostaining of FYCO1, p62, VCP, ubiquitin, BiP, and GRP170 reveals increased sarcoplasmic immunoreactivity in WASHC4-mutant muscle fibers. Scale bars = 30 μm. (B) Immunoblotting results confirming the increase of FYCO1, p62, VCP, ubiquitin, BiP, and GRP170 in whole protein extracts of the WASHC4 patient-derived muscle. LC3 showed an increased conversion from LC3-I to LC3-II in the WASHC4 patient-derived muscle. p62 showed a band at a lower molecular weight compared with the control. Additionally, there were increases of galectin-3 (LEG3), phospho-PERK (pPERK), and amyloid, as well as decreases of Rab7, actin, and tenascin (TNC). Ponceau staining of a representative nitrocellulose membrane demonstrates equal protein loading.
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Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
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Full text @ J. Pathol.