To dissect the interaction between Ahi-1/AHI-1 and DNM2, four Ahi-1 and DNM2 constructs were generated, including HA-tagged full-length or SH3 domain-deleted Ahi-1 and Myc-tagged full-length or proline rich domain (PRD)-deleted DNM2 (Figure 1a, left). Proximity ligation assays (PLA)...
Download: Download full-size image Figure 2. Muscle strength tests and deficits in the contractile properties (A) Four limbs grip test and (B) hanging test (n = 10 up to 8 weeks, n = 5 from 12 to 24 weeks). (C) Representative rotatory movements of the tail and forelimbs during the...
Conclusion Our finding that homozygous, loss-of-function variants in DNM1 cause DEE expands the spectrum of pathogenic variants in DNM1 . All parents who were heterozygous carriers of the identified loss-of-function variants were healthy and did not show any clinical symptoms, indicating that the...
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Strikingly, this interaction was enhanced in BCR-ABL-transduced cells co-expressing full-length Ahi-1; in contrast, the interaction was not observed in BCR-ABL/Ahi-1 SH3Δ co-transduced cells (Figure 4c, middle). This was supported by the observation of a IP: DNM2 WB: 4G10 (pan-pY)...