Deep intronic mutations and human disease
R Vaz-Drago, N Custódio, M Carmo-Fonseca - Human genetics, 2017 - Springer
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …
substantial proportion of patients, sequence information restricted to exons and exon–intron …
The Genome Sequence of Drosophila melanogaster
The fly Drosophila melanogaster is one of the most intensively studied organisms in biology
and serves as a model system for the investigation of many developmental and cellular …
and serves as a model system for the investigation of many developmental and cellular …
The significant other: splicing by the minor spliceosome
The removal of non‐coding sequences, introns, from the mRNA precursors is an essential
step in eukaryotic gene expression. U12‐type introns are a minor subgroup of introns …
step in eukaryotic gene expression. U12‐type introns are a minor subgroup of introns …
Splicing double: insights from the second spliceosome
AA Patel, JA Steitz - Nature reviews Molecular cell biology, 2003 - nature.com
The genomes of most multicellular organisms contain a new class of introns that have non-
canonical consensus sequences. These minor-class introns occur extremely rarely and are …
canonical consensus sequences. These minor-class introns occur extremely rarely and are …
Spliceosomal UsnRNP biogenesis, structure and function
CL Will, R Lührmann - Current opinion in cell biology, 2001 - Elsevier
Significant advances have been made in elucidating the biogenesis pathway and three-
dimensional structure of the UsnRNPs, the building blocks of the spliceosome. U2 and …
dimensional structure of the UsnRNPs, the building blocks of the spliceosome. U2 and …
New connections between splicing and human disease
RA Padgett - Trends in Genetics, 2012 - cell.com
The removal by splicing of introns from the primary transcripts of most mammalian genes is
an essential step in gene expression. Splicing is performed by large, complex …
an essential step in gene expression. Splicing is performed by large, complex …
[HTML][HTML] Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD‐box protein
CL Will, H Urlaub, T Achsel, M Gentzel, M Wilm… - The EMBO …, 2002 - embopress.org
Mass spectrometry was used to identify novel proteins associated with the human 17S U2
snRNP and one of its stable subunits, SF3b. Several additional proteins were identified …
snRNP and one of its stable subunits, SF3b. Several additional proteins were identified …
Origin of spliceosomal introns and alternative splicing
In this work we review the current knowledge on the prehistory, origins, and evolution of
spliceosomal introns. First, we briefly outline the major features of the different types of …
spliceosomal introns. First, we briefly outline the major features of the different types of …
Molecular architecture of the multiprotein splicing factor SF3b
MM Golas, B Sander, CL Will, R Luhrmann, H Stark - Science, 2003 - science.org
The splicing factor SF3b is a multiprotein complex essential for the accurate excision of
introns from pre-messenger RNA. As an integral component of the U2 small nuclear …
introns from pre-messenger RNA. As an integral component of the U2 small nuclear …
Cellular machineries for chromosomal DNA repair
CL Peterson, J Côté - Genes & development, 2004 - genesdev.cshlp.org
Each day a cell must face a constant onslaught of DNA lesions. Although we tend to worry
most about environmental sources of DNA damage (eg, chemical agents, UV radiation …
most about environmental sources of DNA damage (eg, chemical agents, UV radiation …