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Minor spliceosome and disease.
Semin Cell Dev Biol. 2018 Jul;79:103-112. doi: 10.1016/j.semcdb.2017.09.036. Epub 2017 Dec 14.
Semin Cell Dev Biol. 2018.
PMID: 28965864
Free article.
Review.
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.
Norppa AJ, Kauppala TM, Heikkinen HA, Verma B, Iwaï H, Frilander MJ.
Norppa AJ, et al.
RNA. 2018 Mar;24(3):396-409. doi: 10.1261/rna.062844.117. Epub 2017 Dec 18.
RNA. 2018.
PMID: 29255062
Free PMC article.
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The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability.
Norppa AJ, Frilander MJ.
Norppa AJ, et al.
Nucleic Acids Res. 2021 Mar 18;49(5):2835-2847. doi: 10.1093/nar/gkab048.
Nucleic Acids Res. 2021.
PMID: 33577674
Free PMC article.
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Distinct functions for the paralogous RBM41 and U11/U12-65K proteins in the minor spliceosome.
Norppa AJ, Chowdhury I, van Rooijen LE, Ravantti JJ, Snel B, Varjosalo M, Frilander MJ.
Norppa AJ, et al.
Nucleic Acids Res. 2024 Apr 24;52(7):4037-4052. doi: 10.1093/nar/gkae070.
Nucleic Acids Res. 2024.
PMID: 38499487
Free PMC article.
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