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Udai Bhan Pandey on Muck Rack

Udai Bhan Pandey

As seen in: Nature, The American Journal of Human Genetics
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Articles

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

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By Eric Anderson, Stephan Holger Drukewitz, Sukhleen Kour, Deepa Rajan, Karen Stals, Deirdre Donnelly, Tiong Y. Tan, Zornitza Stark, Pia Zacher, Nicolas Chatron, Séverine Drunat, Yoann Vial, Xenia Latypova, Jonathan Levy, Alain Verloes, Jennefer N. Carter, Devon E. Bonner, Suma P. Shankar, Jonathan Bernstein, Julie Cohen, Anne M. Comi, Deanna Alexis Carere, Lisa Dyer, Sureni V. Mullegama, Pedro A. Sanchez-Lara, Katheryn Grand, Hyung-Goo Kim, Afif Ben-Mahmoud, Sidney M. Gospe, Gary Bellus, Renske Oegema, Anita Rauch, Ivan Ivanovski, Frédéric Tran Mau-Them, Aurore Garde, Rachel A. Rabin, John Pappas, Annette E. Bley, Timo Wagner, Eva L. Decker, Carsten Bergmann Verified, Henri Margot, Johannes R. Lemke, Rami Abou Jamra, Julia Hentschel, Heather C Mefford, Amit Singh, Udai Bhan Pandey, Konrad Platzer, Anuradha V. Chimata, Senta Schönnagel, John F. Mantovani, Pauline Monin, Rebecca S. Belles, Klaske D. Lichtenbelt, Janna Bredow, Louis Domenach
| The American Journal of Human Genetics Verified
Keywords KDM2A neurodevelopmental disorder epigenetic machinery Introduction The epigenetic machinery encompasses proteins that function as writers, erasers, readers, and remodelers of epigenetic marks on DNA and histones. The eraser KDM2A removes mono- and di-methylation from histone 3 at lysine 36 (H3K36).
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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

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By Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaría, Agatha Schlüter, Edgard Verdura, Gorka Gerenu, Josefina Casas, Joan Bech, Juan Martinez, Juan Martínez Verified, Montserrat Ruiz, Maria Iascone, Kolja Meier, Reagan Lee, Asif Mir, Hossein Darvish, Wendy Chung, Ehsan Ghayoor Karimiani, Suzanne Leal, Isabelle Schrauwen, Susanna Öhman, Irma Järvelä, Karit Reinson, Katrin Õunap, Konrad Platzer, Tugba Kalayci, G. Christoph Korenke, Henry Houlden, Reza Maroofian, Carlos Casasnovas, Udai Bhan Pandey, Aurora Pujol, Andrés Jiménez-Zúñiga, Alejandro Iñañez, Stéphane Fourcade, Romano Tenconi, Susann Diegmann, Bakht Beland, Johanna Granvik, Elvira Kurvinen, Annemarie Schwan, Shahrashoub Sharifi
| The American Journal of Human Genetics Verified
Keywords neurodevelopmental delay RPS6KC1 RSK family mTOR sphingosine PI(3)P Get full text access Log in, subscribe or purchase for full access. References 1. Ruvinsky, I. ∙ Meyuhas, O. Ribosomal protein S6 phosphorylation: from protein synthesis to cell size Trends Biochem. Sci. 2006; 31:342-348 2. Reijnders, M.R.F. ∙ Kousi, M. ∙ van Woerden, G.M. ... Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability Nat. Commun. 2017; 8:1052 3. Hayashi, S.
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HuD impairs neuromuscular junctions and induces apoptosis in human iPSC and Drosophila ALS models - Nature Communications

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By Valeria de Turris, Maria Giovanna Garone, Monica Ballarino, Udai Bhan Pandey, Beatrice Borhy
| Nature Verified
Abstract Defects at the neuromuscular junction (NMJ) are among the earliest hallmarks of amyotrophic lateral sclerosis (ALS). According to the “dying-back” hypothesis, NMJ disruption not only precedes but also triggers the subsequent degeneration of motoneurons in both sporadic (sALS) and familial (fALS) ALS. Using human induced pluripotent stem cells (iPSCs), we show that the RNA-binding protein HuD (ELAVL4) contributes to NMJ defects and apoptosis in FUS-ALS.
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