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The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy.
Tapken I, Schweitzer T, Paganin M, Schüning T, Detering NT, Sharma G, Niesert M, Saffari A, Kuhn D, Glynn A, Cieri F, Santonicola P, Cannet C, Gerstner F, Faller KME, Huang YT, Kothary R, Gillingwater TH, Di Schiavi E, Simon CM, Hensel N, Ziegler A, Viero G, Pich A, Claus P. Tapken I, et al. Among authors: kothary r. Brain. 2024 Aug 26:awae272. doi: 10.1093/brain/awae272. Online ahead of print. Brain. 2024. PMID: 39183150
Glucose metabolism and pancreatic defects in spinal muscular atrophy.
Bowerman M, Swoboda KJ, Michalski JP, Wang GS, Reeks C, Beauvais A, Murphy K, Woulfe J, Screaton RA, Scott FW, Kothary R. Bowerman M, et al. Among authors: kothary r. Ann Neurol. 2012 Aug;72(2):256-68. doi: 10.1002/ana.23582. Ann Neurol. 2012. PMID: 22926856 Free PMC article.
Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice.
Walter LM, Deguise MO, Meijboom KE, Betts CA, Ahlskog N, van Westering TLE, Hazell G, McFall E, Kordala A, Hammond SM, Abendroth F, Murray LM, Shorrock HK, Prosdocimo DA, Haldar SM, Jain MK, Gillingwater TH, Claus P, Kothary R, Wood MJA, Bowerman M. Walter LM, et al. Among authors: kothary r. EBioMedicine. 2018 May;31:226-242. doi: 10.1016/j.ebiom.2018.04.024. Epub 2018 May 4. EBioMedicine. 2018. PMID: 29735415 Free PMC article.
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.
Deguise MO, Baranello G, Mastella C, Beauvais A, Michaud J, Leone A, De Amicis R, Battezzati A, Dunham C, Selby K, Warman Chardon J, McMillan HJ, Huang YT, Courtney NL, Mole AJ, Kubinski S, Claus P, Murray LM, Bowerman M, Gillingwater TH, Bertoli S, Parson SH, Kothary R. Deguise MO, et al. Among authors: kothary r. Ann Clin Transl Neurol. 2019 Aug;6(8):1519-1532. doi: 10.1002/acn3.50855. Epub 2019 Jul 26. Ann Clin Transl Neurol. 2019. PMID: 31402618 Free PMC article.
SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease.
Deguise MO, Pileggi C, De Repentigny Y, Beauvais A, Tierney A, Chehade L, Michaud J, Llavero-Hurtado M, Lamont D, Atrih A, Wishart TM, Gillingwater TH, Schneider BL, Harper ME, Parson SH, Kothary R. Deguise MO, et al. Among authors: kothary r. Cell Mol Gastroenterol Hepatol. 2021;12(1):354-377.e3. doi: 10.1016/j.jcmgh.2021.01.019. Epub 2021 Feb 2. Cell Mol Gastroenterol Hepatol. 2021. PMID: 33545428 Free PMC article.
264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th - 21st 2021.
Detering NT, Zambon A, Hensel N, Kothary R, Swoboda K, Gillingwater TH, Baranello G; Workshop participants; Industry participants. Detering NT, et al. Among authors: kothary r. Neuromuscul Disord. 2022 Aug;32(8):697-705. doi: 10.1016/j.nmd.2022.06.005. Epub 2022 Jun 17. Neuromuscul Disord. 2022. PMID: 35794048 No abstract available.
Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice.
Meijboom KE, Sutton ER, McCallion E, McFall E, Anthony D, Edwards B, Kubinski S, Tapken I, Bünermann I, Hazell G, Ahlskog N, Claus P, Davies KE, Kothary R, Wood MJA, Bowerman M. Meijboom KE, et al. Among authors: kothary r. Skelet Muscle. 2022 Jul 28;12(1):18. doi: 10.1186/s13395-022-00301-z. Skelet Muscle. 2022. PMID: 35902978 Free PMC article.
194 results