LEADER 05808nam 2201393z- 450 001 9910674051103321 005 20210501 035 $a(CKB)5400000000042749 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/69174 035 $a(oapen)doab69174 035 $a(EXLCZ)995400000000042749 100 $a20202105d2020 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aMolecular Therapies for Inherited Retinal Diseases 210 $aBasel, Switzerland$cMDPI - Multidisciplinary Digital Publishing Institute$d2020 215 $a1 online resource (262 p.) 311 08$a3-03943-176-5 311 08$a3-03943-177-3 330 $aFollowing the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. 'Classical' gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene-or even every mutation-may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside. 606 $aBiology, life sciences$2bicssc 606 $aResearch & information: general$2bicssc 610 $aAAV 610 $aABCA4 610 $aadeno-associated viral 610 $aadeno-associated virus (AAV) 610 $aallele-specific knockdown 610 $aantisense oligonucleotides 610 $aAON-mediated exon skipping 610 $aapical polarity 610 $aapoptosis 610 $aARPE-19 cells 610 $aautophagy 610 $aautosomal dominant 610 $abipolar cells 610 $aCEP290 610 $achaperones 610 $achaperonins 610 $achoroideremia 610 $aCilia elongation 610 $aclathrin-coated vesicles 610 $aclinical trials 610 $aclustered regularly interspaced short palindromic repeats (CRISPR) 610 $acompound therapies 610 $acones 610 $acrumbs complex 610 $acyclic GMP 610 $aDNA therapies 610 $aDNA-wrapped gold nanoparticles 610 $adrug delivery systems 610 $adual AAV 610 $aendosomal trafficking 610 $aEnhanced S-Cone Syndrome (ESCS) 610 $afetal retina 610 $aFlanders founder c.4723A > 610 $aG56R 610 $agapmer antisense oligonucleotides 610 $agene augmentation 610 $agene therapy 610 $agold nanoparticles 610 $aheat shock response 610 $ahomology-directed repair (HDR) 610 $ainduced pluripotent stem cell (iPSC) 610 $ainherited retinal disease 610 $ainherited retinal diseases 610 $aiPSC-derived photoreceptor precursor cells 610 $aIRD 610 $aLeber congenital amaurosis 610 $aLeber congenital amaurosis and allied retinal ciliopathies 610 $amicroRNA 610 $aMu?ller glia 610 $an/a 610 $anecrosis 610 $anonprofit 610 $aNR2E3 610 $aPAR complex 610 $apatient registry 610 $aphotoreceptors 610 $aprotein degradation 610 $aprotein folding 610 $aprotein trafficking 610 $aputative dominant negative effect 610 $aREP1 610 $aretina 610 $aretinal degeneration 610 $aretinal inherited disorders 610 $aretinal organoids 610 $aretinal pigment epithelium 610 $aretinitis pigmentosa 610 $aRetinitis Pigmentosa (RP) 610 $aRetinitis Pigmentosa GTPase Regulator 610 $aretinogenesis 610 $aRNA therapies 610 $aRNA therapy 610 $arods 610 $aRPE65 610 $asplicing modulation 610 $aspontaneous nonsense correction 610 $aStargardt disease 610 $aT nonsense mutation 610 $atherapy 610 $atranslational 610 $atranslational medicine 610 $atreatment 610 $aunfolded protein response 610 $aUsher syndrome 615 7$aBiology, life sciences 615 7$aResearch & information: general 700 $aCollin$b Rob W.J$4edt$01339024 702 $aGaranto$b Alejandro$4edt 702 $aCollin$b Rob W.J$4oth 702 $aGaranto$b Alejandro$4oth 906 $aBOOK 912 $a9910674051103321 996 $aMolecular Therapies for Inherited Retinal Diseases$93059561 997 $aUNINA