000			06556cam a2200745Ii 4500
999			_c485856 _d485856
001			ocn942588150
003			US-DLC
005			20171205143752.0
006			m d
007			cr cnu|||unuuu
008			160302s2016 enk ob 001 0 eng d
020			_z9780128044698 _qelectronic bk.
020			_z0128044691 _qelectronic bk.
020			_a9780128044681
020			_z0128044683
029	1		_aGBVCP _b856077038
035			_a(OCoLC)942588150 _z(OCoLC)944382070 _z(OCoLC)945612153 _z(OCoLC)957679837 _z(OCoLC)957953962 _z(OCoLC)958097141 _z(OCoLC)958392020
040			_aN$T _beng _erda _epn _cN$T _dIDEBK _dN$T _dOPELS _dOCLCF _dYDX _dYDXCP _dEBLCP _dD6H
049			_aAlfaisal Main Library
050		4	_aRB155.5 _b.B45 2016
100	1		_aBenhabiles, Hana, _eauthor.
245	1	0	_aNonsense mutation correction in human diseases : _ban approach for targeted medicine / _cHana Benhabiles, Jieshuang Jia, Fabrice Jejeune.
260			_c2016.
264		1	_aLondon : _bAcedemic Press is an imprint of Elsevier, _c[2016]
300			_a (ix, 180 pages)
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
504			_aIncludes bibliographical references and index.
505	0		_aCover; Title Page; Copyright Page; Contents; About the Authors; Acknowledgments; Chapter 1 -- General Aspects Related to Nonsense Mutations; 1 -- Premature termination codon, nonsense mutation, and consequences on gene expression; 2 -- Pre-mRNA splicing mechanism; 2.1 -- Generalities; 2.2 -- Categories of Alternative Splicing; 2.3 -- Regulation of Splicing; 2.4 -- Pathologies Associated with Splicing Defaults; 3 -- Nonsense-mediated mRNA decay (NMD) mechanism; 3.1 -- Generalities; 3.2 -- Main proteins involved in NMD; 3.2.1 -- UPF1/RENT1/SMG2; 3.2.2 -- UPF2/RENT2/SMG3; 3.2.3 -- UPF3/UPF3a/Rent3A
505	8		_a3.2.4 -- UPF3X/UPF3b/Rent3B3.2.5 -- Suppressor of Morphogenesis in Genitalia 1 (SMG1)/ATX/Lambda-Iota Protein Kinase C-Interacting Protein (LIP); 3.2.6 -- SMG5/EST1B; 3.2.7 -- SMG6/EST1A/hSmg5/7a; 3.2.8 -- SMG7/EST1C; 3.2.9 -- SMG8/Amplified in Breast Cancer Gene 2 and SMG9; 3.3 -- EJC-Dependent Model; 3.4 -- Model Involving the Distance Between the Stop Codon and the Position of the poly(A) Binding Protein C1; 3.5 -- Natural Substrates of NMD; 3.6 -- Regulation; 3.6.1 -- Autoregulation; 3.6.2 -- Tissue Specificity; 3.6.3 -- Inhibition During Apoptosis; 3.6.4 -- miRNA; 3.6.5 -- Phosphorylation
505	8		_a3.6.6 -- Regulation by Availability of NMD Factors3.7 -- UPF2, UPF3X/UPF3b Independent Pathway; 3.8 -- Pathologies Associated with NMD Defaults; 4 -- Correction of nonsense mutations, a case of targeted therapy; References; Chapter 2 -- Pathologies Susceptible to be Targeted for Nonsense Mutation Therapies; 1 -- Rare diseases; 1.1 -- Duchenne Muscular Dystrophy (DMD); 1.2 -- Cystic Fibrosis (CF); 1.3 -- Spinal Muscular Atrophy; 2 -- Frequent diseases; 2.1 -- Cancers; 2.2 -- Metabolic Diseases; 2.3 -- Neurologic Disorders; References; Chapter 3 -- Strategies to Correct Nonsense Mutations
505	8		_a1 -- The exon skipping1.1 -- Principle; 1.2 -- Examples; 1.3 -- Weaknesses; 2 -- Trans-splicing; 2.1 -- Principle; 2.2 -- An Example of Trans-Splicing Used as Therapeutic Approach for Duchenne Muscular Dystrophy; 2.3 -- Weaknesses; 3 -- PTC-readthrough; 3.1 -- Principle; 3.1.1 -- Aminoglycoside Molecules; 3.1.2 -- Nonaminoglycoside Molecules; 3.2 -- Weaknesses; 4 -- NMD inhibition; 4.1 -- Principle; 4.2 -- Examples; 4.3 -- Weaknesses; 5 -- Pseudouridylation at the PTC; 5.1 -- Principle; 5.2 -- Weaknesses; 6 -- Gene therapy; 6.1 -- Principle; 6.2 -- Weaknesses; 7 -- Cell therapy; 7.1 -- Principle; 7.2 -- Weaknesses
505	8		_a8 -- Genome editing8.1 -- Zinc Finger Nucleases; 8.1.1 -- Weaknesses; 8.2 -- Transcription Activator-Like Effector Nucleases; 8.2.1 -- Weaknesses; 8.3 -- CRISPR/Cas9; 8.3.1 -- Illustration; 8.3.2 -- Weaknesses; 9 -- Combinatory approaches to improve nonsense mutation therapies; 9.1 -- Activation of Both Transcription and Readthrough; 9.2 -- Inhibition of NMD and Activation of Readthrough; 9.3 -- Gene Therapy/Genome Editing/Pseudouridylation at the PTC and Cell Therapy; References; Chapter 4 -- Conclusions; 1 -- Summary on the different strategies and their results
505	8		_a2 -- Personalized/targeted medicine versus traditional medicine
520			_aNonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD). It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine.
590			_aElsevier _bScienceDirect All Books
590			_aOCLC _bWorldCat Holdings
650		0	_aGenetic disorders.
650		0	_aMutation (Biology)
650		7	_aHEALTH & FITNESS / Diseases / General _2bisacsh
650		7	_aMEDICAL / Clinical Medicine _2bisacsh
650		7	_aMEDICAL / Diseases _2bisacsh
650		7	_aMEDICAL / Evidence-Based Medicine _2bisacsh
650		7	_aMEDICAL / Internal Medicine _2bisacsh
650		7	_aGenetic disorders. _2fast
650		7	_aMutation (Biology) _2fast
650		2	_aGenetic Diseases, Inborn.
655		0	_aPrint books. _2local _94
700	1		_aJia, Jieshuang, _eauthor.
700	1		_aLejeune, Fabrice, _eauthor.
776	0	8	_cOriginal _z9780128044681 _z0128044683 _w(OCoLC)946815702
942			_2lcc _cBOOKS