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T1  - The integrity of the U12 snRNA 3 ' stem-loop is necessary for its overall stability 
SN  -  /  
UR  - http://hdl.handle.net/10138/330572 
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A1  - Norppa, Antto J.; Frilander, Mikko J. 
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Y1  - 2021 
LA  - eng 
AB  - Disruption of minor spliceosome functions underlies several genetic diseases with mutations in the minor spliceosome-specific small nuclear RNAs (snRNAs) and proteins. Here, we define the molecular outcome of the U12 snRNA mutation (84C>U) resulting in an early-onset form of cerebellar ataxia. To understand the molecular consequences of the U12 snRNA mutation, we created cell lines harboring the 84C>T mutation in the U12 snRNA gene (RNU12). We show that the 84C>U mutation leads to accelerated de... 
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KW  - SMALL NUCLEAR-RNA; 5 SPLICE-SITE; DEVELOPMENTAL DISORDER; MINOR SPLICEOSOME; SURVEILLANCE PATHWAY; DEGRADATION PATHWAY; TRUNCATED FORMS; QUALITY-CONTROL; IN-VIVO; PROTEIN; 1182 Biochemistry, cell and molecular biology 
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ER  -