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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: huang yt. Brain. 2024 Aug 26:awae272. doi: 10.1093/brain/awae272. Online ahead of print. Brain. 2024. PMID: 39183150
The role of survival motor neuron protein (SMN) in protein homeostasis.
Chaytow H, Huang YT, Gillingwater TH, Faller KME. Chaytow H, et al. Among authors: huang yt. Cell Mol Life Sci. 2018 Nov;75(21):3877-3894. doi: 10.1007/s00018-018-2849-1. Epub 2018 Jun 5. Cell Mol Life Sci. 2018. PMID: 29872871 Free PMC article. Review.
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: huang yt. 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.
1,936 results