Identification and Characterization of AberrantGAAPre-mRNA Splicing in Pompe Disease Using a Generic Approach

2014 ◽  
Vol 36 (1) ◽  
pp. 57-68 ◽  
Author(s):  
Atze J. Bergsma ◽  
Marian Kroos ◽  
Marianne Hoogeveen-Westerveld ◽  
Dicky Halley ◽  
Ans T. van der Ploeg ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Mrna Splicing ◽  
Identification And Characterization

Identification and characterization of aberrant splicing in Pompe disease using a genetic approach

2015 ◽  
Vol 25 ◽  
pp. S191
Author(s):  
W. Pijnappel ◽  
A. Bergsma ◽  
A. van der Ploeg ◽  
M. Hoogeveen-Westerveld ◽  
D. Halley ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Genetic Approach ◽  
Aberrant Splicing ◽  
Identification And Characterization

scholarly journals Identification and characterization of three members of the human SR family of pre-mRNA splicing factors.

1995 ◽  
Vol 14 (17) ◽  
pp. 4336-4349 ◽  
Author(s):  
G. R. Screaton ◽  
J. F. Cáceres ◽  
A. Mayeda ◽  
M. V. Bell ◽  
M. Plebanski ◽  
...  
Keyword(s):  
Mrna Splicing ◽  
Splicing Factors ◽  
Identification And Characterization

scholarly journals Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

2015 ◽  
Vol 2 (s1) ◽  
pp. S39-S39
Author(s):  
Atze J. Bergsma ◽  
Marian Kroos ◽  
Marianne Hoogeveen-Westerveld ◽  
Dicky Halley ◽  
Ans T. van der Ploeg ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Aberrant Splicing ◽  
Identification And Characterization

scholarly journals The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing

2010 ◽  
Vol 38 (4) ◽  
pp. 1110-1115 ◽  
Author(s):  
Rebecca Hogg ◽  
Joanne C. McGrail ◽  
Raymond T. O'Keefe
Keyword(s):  
Recent Work ◽  
Present Article ◽  
Essential Role ◽  
Mrna Splicing ◽  
Associated Proteins ◽  
Intron Removal ◽  
Identification And Characterization ◽  
Small Nuclear Ribonucleoproteins ◽  
Essential Support

The NineTeen Complex (NTC) of proteins associates with the spliceosome during pre-mRNA splicing and is essential for both steps of intron removal. The NTC and other NTC-associated proteins are recruited to the spliceosome where they participate in regulating the formation and progression of essential spliceosome conformations required for the two steps of splicing. It is now clear that the NTC is an integral component of active spliceosomes from yeast to humans and provides essential support for the spliceosomal snRNPs (small nuclear ribonucleoproteins). In the present article, we discuss the identification and characterization of the yeast NTC and review recent work in yeast that supports the essential role for this complex in the regulation and fidelity of splicing.

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