MARC details
000 -LEADER |
fixed length control field |
05941naaaa2201345uu 4500 |
001 - CONTROL NUMBER |
control field |
https://directory.doabooks.org/handle/20.500.12854/69174 |
005 - DATE AND TIME OF LATEST TRANSACTION |
control field |
20220714185122.0 |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
books978-3-03943-177-9 |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783039431762 |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783039431779 |
024 7# - OTHER STANDARD IDENTIFIER |
Standard number or code |
10.3390/books978-3-03943-177-9 |
Terms of availability |
doi |
041 0# - LANGUAGE CODE |
Language code of text/sound track or separate title |
English |
042 ## - AUTHENTICATION CODE |
Authentication code |
dc |
072 #7 - SUBJECT CATEGORY CODE |
Subject category code |
GP |
Source |
bicssc |
072 #7 - SUBJECT CATEGORY CODE |
Subject category code |
PS |
Source |
bicssc |
100 1# - MAIN ENTRY--PERSONAL NAME |
Personal name |
Collin, Rob W.J. |
Relator code |
edt |
9 (RLIN) |
1607267 |
245 10 - TITLE STATEMENT |
Title |
Molecular Therapies for Inherited Retinal Diseases |
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
Place of publication, distribution, etc |
Basel, Switzerland |
Name of publisher, distributor, etc |
MDPI - Multidisciplinary Digital Publishing Institute |
Date of publication, distribution, etc |
2020 |
300 ## - PHYSICAL DESCRIPTION |
Extent |
1 electronic resource (262 p.) |
506 0# - RESTRICTIONS ON ACCESS NOTE |
Terms governing access |
Open Access |
Source of term |
star |
Standardized terminology for access restriction |
Unrestricted online access |
520 ## - SUMMARY, ETC. |
Summary, etc |
Following 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. |
540 ## - TERMS GOVERNING USE AND REPRODUCTION NOTE |
Terms governing use and reproduction |
Creative Commons |
-- |
https://creativecommons.org/licenses/by/4.0/ |
-- |
cc |
-- |
https://creativecommons.org/licenses/by/4.0/ |
546 ## - LANGUAGE NOTE |
Language note |
English |
650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name as entry element |
Research & information: general |
Source of heading or term |
bicssc |
9 (RLIN) |
928234 |
650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name as entry element |
Biology, life sciences |
Source of heading or term |
bicssc |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
induced pluripotent stem cell (iPSC) |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
clustered regularly interspaced short palindromic repeats (CRISPR) |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
homology-directed repair (HDR) |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Enhanced S-Cone Syndrome (ESCS) |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
NR2E3 |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
AAV |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
retina |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
gene therapy |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
dual AAV |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
gold nanoparticles |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
DNA-wrapped gold nanoparticles |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
ARPE-19 cells |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
retinal pigment epithelium |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
clathrin-coated vesicles |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
endosomal trafficking |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
retinitis pigmentosa |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
autosomal dominant |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
G56R |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
putative dominant negative effect |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
gapmer antisense oligonucleotides |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
allele-specific knockdown |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Leber congenital amaurosis and allied retinal ciliopathies |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
CEP290 |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Flanders founder c.4723A > |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
T nonsense mutation |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Cilia elongation |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
spontaneous nonsense correction |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
AON-mediated exon skipping |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
microRNA |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
photoreceptors |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
rods |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
cones |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
bipolar cells |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Müller glia |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
retinal inherited disorders |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
retinal degeneration |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
antisense oligonucleotides |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Stargardt disease |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
inherited retinal diseases |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
splicing modulation |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
RNA therapy |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
ABCA4 |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
iPSC-derived photoreceptor precursor cells |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
cyclic GMP |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
apoptosis |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
necrosis |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
drug delivery systems |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
translational medicine |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Usher syndrome |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Leber congenital amaurosis |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
RPE65 |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
nonprofit |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
patient registry |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
translational |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
protein trafficking |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
protein folding |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
protein degradation |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
chaperones |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
chaperonins |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
heat shock response |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
unfolded protein response |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
autophagy |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
therapy |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
IRD |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
DNA therapies |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
RNA therapies |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
compound therapies |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
clinical trials |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Retinitis Pigmentosa GTPase Regulator |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
adeno-associated viral |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Retinitis Pigmentosa (RP) |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
choroideremia |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
REP1 |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
inherited retinal disease |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
treatment |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
apical polarity |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
crumbs complex |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
fetal retina |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
PAR complex |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
retinal organoids |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
retinogenesis |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
gene augmentation |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
adeno-associated virus (AAV) |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
n/a |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Garanto, Alejandro |
Relator code |
edt |
9 (RLIN) |
1563091 |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Collin, Rob W.J. |
Relator code |
oth |
9 (RLIN) |
1607267 |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Garanto, Alejandro |
Relator code |
oth |
9 (RLIN) |
1563091 |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Host name |
www.oapen.org |
Uniform Resource Identifier |
<a href="https://mdpi.com/books/pdfview/book/2946">https://mdpi.com/books/pdfview/book/2946</a> |
-- |
0 |
Public note |
DOAB: download the publication |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Host name |
www.oapen.org |
Uniform Resource Identifier |
<a href="https://directory.doabooks.org/handle/20.500.12854/69174">https://directory.doabooks.org/handle/20.500.12854/69174</a> |
-- |
0 |
Public note |
DOAB: description of the publication |