Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases

Fig. 5

Immunofluorescence-based verification studies of proteomic findings in muscle cells: In comparison to control muscle cells, in the muscle biopsy derived from the Allgrove patient, focal sarcoplasmic and subsarcolemmal enrichment (white arrows) of α-B-Crystallin and HSP90 is found referring to an increase of both cytosolic chaperones. In addition, increase of dots immunoreactive for Ataxin-2 is found in the sarcoplasm and in perinuclear location (white arrow) in the Allgrove patient’s biopsy. Studies of α-Dystroglycan demonstrate uneven, partially increased sarcolemmal immunoreactivity and small immunoreactive sarcoplasmic dots (white arrow) in some fibers. Immunological detection of NCAM1 shows the frequent presence of sarcoplasmic dots of varying size. Moreover, immunological detection of Periostin shows a profound immunoreactivity within the connective tissue with intense foci. FITC-Phalloidin staining visualizing actin unravels perimyonuclear regions with abnormal accumulation (white arrows) as well as subsarcolemmal enrichment (white stars) in a proportion of fibers in the biopsy of the Allgrove patient. Staining of Synaptopodin-2/Myopodin utilizing two different antibodies (M2 & HH9) shows particularly subsarcolemmal enrichment (white arrows) in a proportion of fibers in the biopsy of the Allgrove patient

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