Alternative Splicing and Disease [electronic resource] / edited by Philippe Jeanteur.

Call Number
571.6
Title
Alternative Splicing and Disease edited by Philippe Jeanteur.
Physical Description
XII, 257 p. 26 illus., 2 illus. in color. online resource.
Series
Progress in Molecular and Subcellular Biology, 0079-6484 ; 44
Contents
Methods and Platforms for the Quantification of Splice Variants' Expression -- Pre-mRNA Missplicing as a Cause of Human Disease -- Alternative Splicing: Therapeutic Target and Tool -- SR Proteins as Potential Targets for Therapy -- Misregulation of Tau Alternative Splicing in Neurodegeneration and Dementia -- Spinal Muscular Atrophy and Therapeutic Prospects -- Misregulation of Alternative Splicing Causes Pathogenesis in Myotonic Dystrophy -- Redirecting Splicing to Address Dystrophin Mutations: Molecular By-pass Surgery -- Altered Splicing in Prelamin A-Associated Premature Aging Phenotypes -- Splicing Modulation as a Modifier of the CFTR Function.
Summary
Splicing of primary RNA transcript, i.e. removal of introns and joining of exons to produce mature mRNAs competent for translation into proteins, is a quasi-systematic step of gene expression in higher organisms. However, this process is not unequivocal but can follow alternate pathways. Alternative splicing of a given transcript can therefore yield several distinct mRNAs encoding as many different proteins. Its full biological significance has not been appreciated until it was recognized that alternative splicing is so general as to affect about 75% of all human genes. Therefore, alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences.
Added Author
Jeanteur, Philippe. editor.
SpringerLink (Online service)
Subject
LIFE SCIENCES.
MOLECULAR BIOLOGY.
BIOCHEMISTRY.
CELL BIOLOGY.
Life Sciences.
Cell Biology.
Molecular Medicine.
Biochemistry, general.
Multimedia
  • Libraries with this item
Total Ratings: 0
No records found to display.
 
 
 
03104nam a22005055i 4500
001
 
 
vtls001568930
003
 
 
VRT
005
 
 
20170831185600.0
007
 
 
cr nn 008mamaa
008
 
 
170831s2006    gw |    s    |||| 0|eng d
020
$a 9783540344490 $9 978-3-540-34449-0
024
7
$a 10.1007/978-3-540-34449-0 $2 doi
035
$a (DE-He213)978-3-540-34449-0
039
9
$y 201708311856 $z santha
050
4
$a QH573-671
072
7
$a PSF $2 bicssc
072
7
$a SCI049000 $2 bisacsh
082
0
4
$a 571.6 $2 23
245
1
0
$a Alternative Splicing and Disease $h [electronic resource] / $c edited by Philippe Jeanteur.
264
1
$a Berlin, Heidelberg : $b Springer Berlin Heidelberg, $c 2006.
300
$a XII, 257 p. 26 illus., 2 illus. in color. $b online resource.
336
$a text $b txt $2 rdacontent
337
$a computer $b c $2 rdamedia
338
$a online resource $b cr $2 rdacarrier
347
$a text file $b PDF $2 rda
490
1
$a Progress in Molecular and Subcellular Biology, $x 0079-6484 ; $v 44
505
0
$a Methods and Platforms for the Quantification of Splice Variants' Expression -- Pre-mRNA Missplicing as a Cause of Human Disease -- Alternative Splicing: Therapeutic Target and Tool -- SR Proteins as Potential Targets for Therapy -- Misregulation of Tau Alternative Splicing in Neurodegeneration and Dementia -- Spinal Muscular Atrophy and Therapeutic Prospects -- Misregulation of Alternative Splicing Causes Pathogenesis in Myotonic Dystrophy -- Redirecting Splicing to Address Dystrophin Mutations: Molecular By-pass Surgery -- Altered Splicing in Prelamin A-Associated Premature Aging Phenotypes -- Splicing Modulation as a Modifier of the CFTR Function.
520
$a Splicing of primary RNA transcript, i.e. removal of introns and joining of exons to produce mature mRNAs competent for translation into proteins, is a quasi-systematic step of gene expression in higher organisms. However, this process is not unequivocal but can follow alternate pathways. Alternative splicing of a given transcript can therefore yield several distinct mRNAs encoding as many different proteins. Its full biological significance has not been appreciated until it was recognized that alternative splicing is so general as to affect about 75% of all human genes. Therefore, alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences.
650
0
$a LIFE SCIENCES.
650
0
$a MOLECULAR BIOLOGY.
650
0
$a BIOCHEMISTRY.
650
0
$a CELL BIOLOGY.
650
1
4
$a Life Sciences.
650
2
4
$a Cell Biology.
650
2
4
$a Molecular Medicine.
650
2
4
$a Biochemistry, general.
700
1
$a Jeanteur, Philippe. $e editor.
710
2
$a SpringerLink (Online service)
773
0
$t Springer eBooks
776
0
8
$i Printed edition: $z 9783540344483
830
0
$a Progress in Molecular and Subcellular Biology, $x 0079-6484 ; $v 44
856
4
0
$u http://dx.doi.org/10.1007/978-3-540-34449-0
912
$a ZDB-2-SBL
950
$a Biomedical and Life Sciences (Springer-11642)
999
$a VIRTUA               
No Reviews to Display
Summary
Splicing of primary RNA transcript, i.e. removal of introns and joining of exons to produce mature mRNAs competent for translation into proteins, is a quasi-systematic step of gene expression in higher organisms. However, this process is not unequivocal but can follow alternate pathways. Alternative splicing of a given transcript can therefore yield several distinct mRNAs encoding as many different proteins. Its full biological significance has not been appreciated until it was recognized that alternative splicing is so general as to affect about 75% of all human genes. Therefore, alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences.
Contents
Methods and Platforms for the Quantification of Splice Variants' Expression -- Pre-mRNA Missplicing as a Cause of Human Disease -- Alternative Splicing: Therapeutic Target and Tool -- SR Proteins as Potential Targets for Therapy -- Misregulation of Tau Alternative Splicing in Neurodegeneration and Dementia -- Spinal Muscular Atrophy and Therapeutic Prospects -- Misregulation of Alternative Splicing Causes Pathogenesis in Myotonic Dystrophy -- Redirecting Splicing to Address Dystrophin Mutations: Molecular By-pass Surgery -- Altered Splicing in Prelamin A-Associated Premature Aging Phenotypes -- Splicing Modulation as a Modifier of the CFTR Function.
Subject
LIFE SCIENCES.
MOLECULAR BIOLOGY.
BIOCHEMISTRY.
CELL BIOLOGY.
Life Sciences.
Cell Biology.
Molecular Medicine.
Biochemistry, general.
Multimedia