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SAR156497, an exquisitely selective inhibitor of aurora kinases.
Carry JC, Clerc F, Minoux H, Schio L, Mauger J, Nair A, Parmantier E, Le Moigne R, Delorme C, Nicolas JP, Krick A, Abécassis PY, Crocq-Stuerga V, Pouzieux S, Delarbre L, Maignan S, Bertrand T, Bjergarde K, Ma N, Lachaud S, Guizani H, Lebel R, Doerflinger G, Monget S, Perron S, Gasse F, Angouillant-Boniface O, Filoche-Rommé B, Murer M, Gontier S, Prévost C, Monteiro ML, Combeau C. Carry JC, et al. Among authors: lebel r. J Med Chem. 2015 Jan 8;58(1):362-75. doi: 10.1021/jm501326k. Epub 2014 Nov 24. J Med Chem. 2015. PMID: 25369539
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Among authors: lebel rr. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: lebel rr. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E, LaForce G, Srivastava A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Jimenez Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles E, Louie R, Lebel R, Le TL, Amiel J, Gordon C, Boztug K, Girisha K, Shukla A, Bielas S, Schaffer A. Werren E, et al. Among authors: lebel r. Res Sq [Preprint]. 2023 Sep 6:rs.3.rs-2126145. doi: 10.21203/rs.3.rs-2126145/v1. Res Sq. 2023. PMID: 37720017 Free PMC article. Updated. Preprint.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Cousin MA, et al. Among authors: lebel rr. Genome Med. 2022 Jun 13;14(1):62. doi: 10.1186/s13073-022-01064-4. Genome Med. 2022. PMID: 35698242 Free PMC article.
167 results