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Figure 4 | BMC Medical Genetics

Figure 4

From: Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complex

Figure 4

Intracellular localisation of TSC1 variants detected by immunofluorescence microscopy. (A - B) Immunofluorescence microscopy of cells expressing the TSC1 E51D variant. (A) Punctate cytoplasmic localisation of the E51D variant; (B) DAPI nuclear stain. White scale bar: 5 μm.(C - E) Immunofluorescence microscopy of cells coexpressing TSC2 and the E51D variant. (C) Diffuse cytoplasmic localisation of the E51D variant in the presence of TSC2; (D) Diffuse cytoplasmic localisation of TSC2; (E) DAPI nuclear stain. White scale bar: 5 μm. (F - G) Immunofluorescence microscopy of cells expressing the TSC1 L50P variant. (F) Diffuse cytoplasmic localisation of the L50P variant; (G) DAPI nuclear stain. White scale bar: 5 μm. (H - J) Immunofluorescence microscopy of cells coexpressing TSC2 and the L50P variant. (H) Diffuse cytoplasmic localisation of the L50P variant in the presence of TSC2; (I) Diffuse cytoplasmic localisation of TSC2; (J) DAPI nuclear stain. White scale bar: 5 μm. (K - L) Immunofluorescence microscopy of cells expressing the TSC1 L50P variant and treated with MG-132. (K) Diffuse cytoplasmic localisation of the L50P variant after MG-132 treatment; (L) DAPI nuclear stain. White scale bar: 5 μm

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BMC Medical Genetics

ISSN: 1471-2350

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