The splice of life: Alternative splicing and neurological disease (original) (raw)
Related papers
Targeting Splicing in the Treatment of Human Disease
Genes, 2017
Alternative splicing and cell survival: from tissue homeostasis to disease
Cell Death & Differentiation, 2016
Precise temporal regulation of alternative splicing during neural development
2018
Discovery of RNA splicing and genes in pieces
Proceedings of the National Academy of Sciences of the United States of America, 2016
Dynamics and Functional Roles of Splicing Factor Autoregulation
SSRN Electronic Journal, 2021
ASD: the Alternative Splicing Database
Nucleic Acids Research, 2004
A Slow RNA Polymerase II Affects Alternative Splicing In Vivo
Molecular Cell, 2003
BMC Genomics, 2008
A coactivator of pre-mRNA splicing
Genes & Development, 1998
Frontiers in Genetics, 2020
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
Annals of Clinical and Translational Neurology, 2019
Human Molecular Genetics, 2000
Identification of an RNA Binding Specificity for the Potential Splicing Factor TLS
Journal of Biological Chemistry, 2000
Human Genetics, 2004
Disrupted minor intron splicing is prevalent in Mendelian disorders
Molecular Genetics & Genomic Medicine, 2020
Journal of Biological Chemistry, 1985
Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron gene
The EMBO Journal, 2010
Functional analysis of splicing mutations and of an exon 2 polymorphic variant ofSERPING1/C1NH
Human Mutation, 2006
Molecular Cell, 2004
Aberrant splicing in neurological diseases
Wiley Interdiscip Rev RNA, 2013
Spliceotherapy: Targeting Spliceosome Assembly to Treat Spliceopathies
2012
Alternative splicing in plants – coming of age
Trends in Plant Science, 2012
Journal of Molecular Medicine, 2006
Complexities of 5'splice site definition: implications in clinical analyses
2012
Cancers, 2022
ASPicDB: a database of annotated transcript and protein variants generated by alternative splicing
Nucleic Acids Research, 2011
Quantification of splice variants using real-time PCR
Nucleic Acids Research, 2001
The role of alternative splicing in cancer
Transcription, 2017
Genetic regulation of RNA splicing in human pancreatic islets
bioRxiv (Cold Spring Harbor Laboratory), 2021
AID splice variants lack deaminase activity
…, 2009
Interaction of protein phosphatase type 1 with a splicing factor
FEBS Letters, 1996
Experimental Cell Research, 2006
Elimination of mRNA splicing by a point mutation outside the conserved GU at 5′ splice sites
Nucleic Acids Research, 1984
Alternative splicing and disease
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009
Brain, 2020