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G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling.
Prentzell MT, Rehbein U, Cadena Sandoval M, De Meulemeester AS, Baumeister R, Brohée L, Berdel B, Bockwoldt M, Carroll B, Chowdhury SR, von Deimling A, Demetriades C, Figlia G; Genomics England Research Consortium; de Araujo MEG, Heberle AM, Heiland I, Holzwarth B, Huber LA, Jaworski J, Kedra M, Kern K, Kopach A, Korolchuk VI, van 't Land-Kuper I, Macias M, Nellist M, Palm W, Pusch S, Ramos Pittol JM, Reil M, Reintjes A, Reuter F, Sampson JR, Scheldeman C, Siekierska A, Stefan E, Teleman AA, Thomas LE, Torres-Quesada O, Trump S, West HD, de Witte P, Woltering S, Yordanov TE, Zmorzynska J, Opitz CA, Thedieck K. Prentzell MT, et al. Among authors: scheldeman c. Cell. 2021 Feb 4;184(3):655-674.e27. doi: 10.1016/j.cell.2020.12.024. Epub 2021 Jan 25. Cell. 2021. PMID: 33497611 Free PMC article.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Kotulska K, et al. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. Ann Neurol. 2021. PMID: 33180985 Free PMC article. Clinical Trial.
Drug repurposing for Dravet syndrome in scn1Lab-/- mutant zebrafish.
Sourbron J, Partoens M, Scheldeman C, Zhang Y, Lagae L, de Witte P. Sourbron J, et al. Among authors: scheldeman c. Epilepsia. 2019 Feb;60(2):e8-e13. doi: 10.1111/epi.14647. Epub 2019 Jan 20. Epilepsia. 2019. PMID: 30663052 Free PMC article.
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.
Hulshof HM, Kuijf HJ, Kotulska K, Curatolo P, Weschke B, Riney K, Krsek P, Feucht M, Nabbout R, Lagae L, Jansen A, Otte WM, Lequin MH, Sijko K, Benvenuto A, Hertzberg C, Benova B, Scholl T, De Ridder J, Aronica EMA, Kwiatkowski DJ, Jozwiak S, Jurkiewicz E, Braun K, Jansen FE; EPISTOP consortium. Hulshof HM, et al. Neurology. 2022 Mar 22;98(12):e1216-e1225. doi: 10.1212/WNL.0000000000200027. Epub 2022 Jan 31. Neurology. 2022. PMID: 35101906
Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
Hulshof HM, Slot EMH, Lequin M, Breuillard D, Boddaert N, Jozwiak S, Kotulska K, Riney K, Feucht M, Samueli S, Scholl T, Krsek P, Benova B, Braun KPJ, Jansen FE, Nabbout R; EPISTOP consortium. Hulshof HM, et al. J Pediatr. 2021 Jun;233:156-162.e2. doi: 10.1016/j.jpeds.2021.02.060. Epub 2021 Feb 26. J Pediatr. 2021. PMID: 33640330 Free article.
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
De Ridder J, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Lagae L; EPISTOP consortium. De Ridder J, et al. Epilepsia. 2021 May;62(5):1208-1219. doi: 10.1111/epi.16892. Epub 2021 Mar 29. Epilepsia. 2021. PMID: 33778971 Clinical Trial.