A Chronic GM(2) Gangliosidosis Variant with a HEXA Splicing Defect: Quantitation of HEXA mRNAs in Normal and Mutant Fibroblasts

1997 ◽  
Vol 5 (3) ◽  
pp. 129-136 ◽  
Author(s):  
M.J.G. Fernandes ◽  
Peter Hechtman ◽  
Bernard Boulay ◽  
Feige Kaplan
Keyword(s):  
Splicing Defect

A new type of mutation causes a splicing defect in ATM

10.1038/ng858 ◽  
2002 ◽  
Vol 30 (4) ◽  
pp. 426-429 ◽  
Author(s):  
Franco Pagani ◽  
Emanuele Buratti ◽  
Cristiana Stuani ◽  
Regina Bendix ◽  
Thilo Dörk ◽  
...  
Keyword(s):  
Splicing Defect ◽  
New Type

Abnormal muscle development in the heldup3 mutant of Drosophila melanogaster is caused by a splicing defect affecting selected troponin I isoforms

1993 ◽  
Vol 13 (3) ◽  
pp. 1433-1439
Author(s):  
J A Barbas ◽  
J Galceran ◽  
L Torroja ◽  
A Prado ◽  
A Ferrús
Keyword(s):  
Drosophila Melanogaster ◽  
Splice Site ◽  
Muscle Development ◽  
Troponin I ◽  
Differential Splicing ◽  
Thin Filaments ◽  
Molecular Changes ◽  
Splicing Defect ◽  
Visible Effect ◽  
Thoracic Muscles

The troponin I (TnI) gene of Drosophila melanogaster encodes a family of 10 isoforms resulting from the differential splicing of 13 exons. Four of these exons (6a1, 6a2, 6b1, and 6b2) are mutually exclusive and very similar in sequence. TnI isoforms show qualitative specificity whereby each muscle expresses a selected repertoire of them. In addition, TnI isoforms show quantitative specificity whereby each muscle expresses characteristic amounts of each isoform. In the mutant heldup3, the development of the thoracic muscles DLM, DVM, and TDT is aborted. The mutation consists of a one-nucleotide displacement of the 3' AG splice site at the intron preceding exon 6b1, resulting in the failure to produce all exon 6b1-containing TnI isoforms. These molecular changes in a constituent of the thin filaments cause the selective failure to develop the DLM, DVM, and TDT muscles while having no visible effect on other muscles wherein exon 6b1 expression is minor.

scholarly journals tRNA splicing defect underlies brain disorder

2014 ◽  
Vol 15 (6) ◽  
pp. 361-361
Author(s):  
Linda Koch
Keyword(s):  
Brain Disorder ◽  
Trna Splicing ◽  
Splicing Defect

Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation

Blood ◽  
2013 ◽  
Vol 122 (23) ◽  
pp. 3825-3831 ◽  
Author(s):  
Francesca Nuzzo ◽  
Claudia Radu ◽  
Marco Baralle ◽  
Luca Spiezia ◽  
Tilman M. Hackeng ◽  
...  
Keyword(s):  
Ex Vivo ◽  
Factor V ◽  
Splicing Mutation ◽  
Splicing Defect ◽  
Factor V Deficiency ◽  
Key Points ◽  
Life Threatening

Key Points Homozygosity for the F5 c.1296+268A>G splicing mutation causes life-threatening factor V deficiency. Mutation-specific antisense molecules can correct this splicing defect and restore factor V synthesis in the patient’s megakaryocytes.

scholarly journals Exon 2 skipping eliminates γ‐glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency

2019 ◽  
Vol 17 (7) ◽  
pp. 1053-1063
Author(s):  
Mark A. Rishavy ◽  
Kevin W. Hallgren ◽  
Haitao Zhang ◽  
Kurt W. Runge ◽  
Kathleen L. Berkner
Keyword(s):  
Vitamin K ◽  
Clotting Factor ◽  
Carboxylase Activity ◽  
Exon 2 ◽  
Splicing Defect ◽  
Factor Deficiency

scholarly journals Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site

PLoS Genetics ◽  
2018 ◽  
Vol 14 (4) ◽  
pp. e1007360 ◽  
Author(s):  
Ainhoa Martínez-Pizarro ◽  
Maja Dembic ◽  
Belén Pérez ◽  
Brage S. Andresen ◽  
Lourdes R. Desviat
Keyword(s):  
Splice Site ◽  
Gene Mutations ◽  
Splicing Defect ◽  
Pah Gene
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