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[Preprint]. 2023 Oct 19:rs.3.rs-3462973. [Version 1] doi: 10.21203/rs.3.rs-3462973/v1

Figure 3. Functional impact of P93S variant.

Figure 3

(A) and (B) Decreased colocalization of lysosomes in mutant ANXA11 neurons. (A) Representative images of iPSC-derived neurons expressing wildtype and mutant ANXA11 (green) and LAMP1 lysosomal marker (red) showing colocalization of lysosomes with ANXA11 puncta indicated by arrowheads, scale bar = 25 μm, inset scale bar = 4 μm. (B) Quantification of number lysosomes with ANXA11, well mean indicated by dot, horizontal line indicates median, p = 0.0009. (C) and (D) Decreased neuritic RNA in mutant ANXA11 neurons. (C) Representative images of fixed iPSC-derived neurons expressing wildtype and mutant ANXA11 with in situ hybridization probes for β-actin RNA using RNAscope to identify neuritic RNA indicated by arrowheads, scale bar = 25 μm, inset scale bar = 4 μm. (D) Quantification of proportion of neuritic RNA over total RNA, well mean indicated by dot, horizontal line indicates median, p = 0.03.