MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis,Neuropathology and Applied Neurobiology

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MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
Neuropathology and Applied Neurobiology ( IF 5 ) Pub Date : 2021-05-03 , DOI: 10.1111/nan.12717
Anatoly Korotkov ₁ , Nam Suk Sim ₂ , Mark J Luinenburg ₁ , Jasper J Anink ₁ , Jackelien van Scheppingen _{1,

3} , Till S Zimmer ₁ , Anika Bongaarts ₁ , Diede W M Broekaart ₁ , Caroline Mijnsbergen ₁ , Floor E Jansen ₄ , Wim Van Hecke ₅ , Wim G M Spliet ₅ , Peter C van Rijen ₆ , Martha Feucht ₇ , Johannes A Hainfellner ₈ , Pavel Kršek ₉ , Josef Zamecnik ₁₀ , Peter B Crino ₁₁ , Katarzyna Kotulska ₁₂ , Lieven Lagae ₁₃ , Anna C Jansen ₁₄ , David J Kwiatkowski ₁₅ , Sergiusz Jozwiak _{12,

16} , Paolo Curatolo ₁₇ , Angelika Mühlebner ₁ , Jeong H Lee _{2,

18} , James D Mills _{1,

19,

20} , Erwin A van Vliet _{1,

21} , Eleonora Aronica _{1,

22}

Affiliation

Department of (Neuro) Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Republic of Korea.
Department of Neuroimmunology, Netherlands Institute for Neuroscience, Amsterdam, The Netherlands.
Department of Paediatric Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
University Medical Center, Brain Centre, Rudolf Magnus Institute for Neuroscience, Utrecht, The Netherlands.
Department of Pediatrics, Medical University Vienna, Vienna, Austria.
Institute of Neurology, Medical University Vienna, Vienna, Austria.
Department of Pediatric Neurology, 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic.
Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic.
Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.
Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
Department of Development and Regeneration-Section Pediatric Neurology, University Hospitals KU Leuven, Leuven, Belgium.
Pediatric Neurology Unit, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Child Neurology, Medical University of Warsaw, Warsaw, Poland.
Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Rome, Italy.
SoVarGen, Inc, Daejeon, Republic of Korea.
Department of Clinical and Experimental Epilepsy, University College London, London, UK.
Chalfont Centre for Epilepsy, Chalfont St Peter, UK.
Center for Neuroscience, Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, The Netherlands.
Stichting Epilepsie Instellingen Nederland, Heemstede, The Netherlands.

Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in TSC, are linked to cortical tubers in the brain. We previously reported microRNA-34a (miR-34a) among the most upregulated miRs in tubers. Here, we characterised miR-34a expression in tubers with the focus on the early brain development and assessed the regulation of mTORC1 pathway and corticogenesis by miR-34a.

中文翻译：

早期大脑发育过程中结节性硬化症复合体中的 microRNA-34a 激活可能导致皮质生成受损

结节性硬化症 (TSC) 是一种与雷帕霉素复合物 1 (mTORC1) 信号通路的机械靶标失调相关的遗传疾病。经常出现在 TSC 中的神经发育障碍与大脑中的皮质块茎有关。我们之前报道了 microRNA-34a (miR-34a) 是块茎中上调最多的 miR。在这里，我们表征了块茎中 miR-34a 的表达，重点是早期大脑发育，并评估了 miR-34a 对 mTORC1 通路和皮质生成的调节。

更新日期：2021-05-03

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