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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. van Woerden GM, et al. Among authors: avagliano trezza r. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33565190 Free PMC article.
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.
Hakonen JE, Sorrentino V, Avagliano Trezza R, de Wissel MB, van den Berg M, Bleijlevens B, van Ruissen F, Distel B, Baas F, Zelcer N, Weterman MAJ. Hakonen JE, et al. Among authors: avagliano trezza r. Hum Mol Genet. 2017 Jun 1;26(11):2034-2041. doi: 10.1093/hmg/ddx089. Hum Mol Genet. 2017. PMID: 28335037
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y. Avagliano Trezza R, et al. Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24. Nat Neurosci. 2019. PMID: 31235931