Figure 8.

Marinesco–Sjögren-Syndrome. (a) BiP-enrichment in the nuclear envelope of muscle cells visualized by co-immunofluorescence on a human quadriceps muscle biopsy from a healthy donor; left panel highlights co-localization of BiP with KPNB1 (Importin subunit beta-1) within the nuclear envelope, the middle panel illustrates co-localization of BiP with Matrin-3, the right panel illustrates a co-localization of BiP with INPP5K. (b) A photograph of a genetically confirmed MSS patient from Pakistan. (c) Upper figure shows the cerebellum of a 26-weeks old wildtype mouse with regular appearance and distribution of Purkinje cells immunoreactive for STIM1 (brown labelling: Visualized by immunohistochemistry). Lower figure shows the cerebellum of a 26-weeks old woozy animal (no expression of Sil1 as a BiP co-chaperone) with loss of Purkinje cells. Scale bars: 50 µm.