FIGURE

Figure 9

ID
ZDB-FIG-230720-26
Publication
Mansur et al., 2023 - Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset
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Figure 9

KLHL40-NM patients exhibit increased SAR1A protein and vesicle accumulation with ECM defects in skeletal muscle. (A) Immunofluorescence in control and a KLHL40 patient muscle biopsy showing increased SAR1A protein in the patient muscle (white arrows). Moreover, collagen accumulation is seen in the patient muscle (white arrowhead). (B) Transmission electron microscopy of KLHL40 patient muscle showed vesicle accumulation (arrows) and disorganized and damaged extracellular matrix between myofibers (arrows).

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
Acknowledgments
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