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. 2020 Jan 9;29(2):320–334. doi: 10.1093/hmg/ddz310

Figure 4.

Figure 4

Autophagic flux is intact in AP-4-deficient patient-derived fibroblasts. (A) Whole cell levels of autophagosome marker LC-3 (as a ratio of LC3-II/LC3-I) and autophagy substrate p62 are similar in fibroblasts with bi-allelic loss-of-function variants in AP4B1 and heterozygous controls under nutrient-rich conditions. (B) When challenged in a paradigm of autophagy induction through starvation and autophagy blockade with bafilomycin A1, AP-4-deficient patient fibroblast shows (C) an increase in LC3II/I indicative of preserved autophagic flux. (D, E) Levels of ATG9A and AP4E1 remain unchanged by autophagy induction or inhibition. (F-H) Immunocytochemistry for LC3-positive autophagosomes and p62 demonstrates a significant increase in vesicle/punctae number and size following autophagy induction and blockade, again arguing that autophagic flux is maintained in AP-4-deficient fibroblasts. Scale bar: 20 μm. BafA1, bafilomycin A1; LoF, loss of function; WT, wild type.