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A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.
Tamim-Yecheskel BC, Fraiberg M, Kokabi K, Freud S, Shatz O, Marvaldi L, Subic N, Brenner O, Tsoory M, Eilam-Altstadter R, Biton I, Savidor A, Dezorella N, Heimer G, Behrends C, Ben-Zeev B, Elazar Z. Tamim-Yecheskel BC, et al. Autophagy. 2021 Oct;17(10):3082-3095. doi: 10.1080/15548627.2020.1852724. Epub 2020 Dec 10. Autophagy. 2021. PMID: 33218264 Free PMC article.
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Oz-Levi D, et al. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176824 Free PMC article.
TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.
Stadel D, Millarte V, Tillmann KD, Huber J, Tamin-Yecheskel BC, Akutsu M, Demishtein A, Ben-Zeev B, Anikster Y, Perez F, Dötsch V, Elazar Z, Rogov V, Farhan H, Behrends C. Stadel D, et al. Mol Cell. 2015 Oct 1;60(1):89-104. doi: 10.1016/j.molcel.2015.09.010. Mol Cell. 2015. PMID: 26431026 Free article.
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B. Heimer G, et al. Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22. Eur J Paediatr Neurol. 2016. PMID: 26542466
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.
Heimer G, van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting JB, Borghei M, Atawneh OM, Nissenkorn A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B. Heimer G, et al. Hum Mutat. 2020 Feb;41(2):476-486. doi: 10.1002/humu.23945. Epub 2019 Nov 15. Hum Mutat. 2020. PMID: 31692205
196 results