Extended Data Fig. 4: Insulin- and AMPK-related signaling is not compromised in skeletal muscle from homozygous TBC1D4 p.Arg684Ter variant carriers after a single bout of exercise.
a–g, Skeletal muscle protein phosphorylation of Akt Ser473 (a), GS site 2 + 2a (Ser7 + Ser10) (b), GS site 3a + 3b (Ser640 + Ser644) (c), TBC1D4 Ser318 (d), TBC1D4 Ser341 (e), TBC1D4 Ser588 (f) and AMPKα Thr172 (g) in rested and prior exercised muscle before and at the end of the insulin clamp. h, Representative immunoblots. i, The top 15 up- and downregulated Gene Ontology (GO) pathways of the proteome. n = 5 (Rested and Exercised leg – insulin), n = 3 (Rested leg + insulin), and n = 4 (Exercised leg + insulin) in Controls and n = 5 in TBC1D4 carriers (a–g). The difference in n is due to missing biopsies as well as depleted sample material. n = 5 (i). Data are means ± SEM. Data were analyzed using a two-way repeated ANOVA test (two factor repeated) and two-tailed Student-Newman-Keuls post hoc analyses for multiple comparisons (a–g). AU, arbitrary units. LLM, leg lean mass.
