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Figure 6 | Orphanet Journal of Rare Diseases

Figure 6

From: Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

Figure 6

Additional findings in fibroblasts A. Western blot of extracts from cells from control (CB) or affected (PA) individual with goat anti-human CatD antibody, indicating 53-kDa proenzyme precursor (preCatD) and the processed 33 kDa heavy chain (CatD) of cathepsin-D. Detection of β-actin demonstrated similar amounts of protein loading for patient and control lysates. B. Cumulative cell numbers calculated at each passage over a 30 day period. C. Phase images of CB (left) and PA (right) fibrobasts. Arrows indicate translucent vacuoles present in many of the PA cells. Electron micrographs of normal (D) and patient (E) fibroblasts. F. Nucleus (N) from patient’s fibroblast surrounded by a dense band of filamentous material.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172