当前位置： SCI文献检索 > Genes期刊下所有文献 > Molecular Strategies for RPGR Gene Therapy.

Molecular Strategies for RPGR Gene Therapy.

Abstract：

:Mutations affecting the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the commonest cause of X-linked and recessive retinitis pigmentosa (RP), accounting for 10%-20% of all cases of RP. The phenotype is one of the most severe amongst all causes of RP, characteristic for its early onset and rapid progression to blindness in young people. At present there is no cure for RPGR-related retinal disease. Recently, however, there have been important advances in RPGR research from bench to bedside that increased our understanding of RPGR function and led to the development of potential therapies, including the progress of adeno-associated viral (AAV)-mediated gene replacement therapy into clinical trials. This manuscript discusses the advances in molecular research, which have connected the RPGR protein with an important post-translational modification, known as glutamylation, that is essential for its optimal function as a key regulator of photoreceptor ciliary transport. In addition, we review key pre-clinical research that addressed challenges encountered during development of therapeutic vectors caused by high infidelity of the RPGR genomic sequence. Finally, we discuss the structure of three current phase I/II clinical trials based on three AAV vectors and RPGR sequences and link the rationale behind the use of the different vectors back to the bench research that led to their development.

journal_name

Genes (Basel)

journal_title

Genes

authors

Cehajic Kapetanovic J,McClements ME,Martinez-Fernandez de la Camara C,MacLaren RE

doi

10.3390/genes10090674

subject

Has Abstract

pub_date

2019-09-04 00:00:00

issue

9

issn

2073-4425

pii

genes10090674

journal_volume

10

pub_type

杂志文章,评审

相关文献

Genes文献大全
  • Cryptic Diversity Hidden within the Leafminer Genus Liriomyza (Diptera: Agromyzidae).

    abstract：:Leafminer insects of the genus Liriomyza are small flies whose larvae feed on the internal tissue of some of the most important crop plants for the human diet. Several of these pest species are highly uniform from the morphological point of view, meaning molecular data represents the only reliable taxonomic tool usefu...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9110554

    authors： Carapelli A,Soltani A,Leo C,Vitale M,Amri M,Mediouni-Ben Jemâa J

    更新日期：2018-11-15 00:00:00

  • Comparative Genomics and Evolutionary Analysis of RNA-Binding Proteins of Burkholderia cenocepacia J2315 and Other Members of the B. cepacia Complex.

    abstract：:RNA-binding proteins (RBPs) are important regulators of cellular functions, playing critical roles on the survival of bacteria and in the case of pathogens, on their interaction with the host. RBPs are involved in transcriptional, post-transcriptional, and translational processes. However, except for model organisms l...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11020231

    authors： Feliciano JR,Seixas AMM,Pita T,Leitão JH

    更新日期：2020-02-21 00:00:00

  • The Genome of the Northern Sea Otter (Enhydra lutris kenyoni).

    abstract：:The northern sea otter inhabits coastal waters of the northern Pacific Ocean and is the largest member of the Mustelidae family. DNA sequencing methods that utilize microfluidic partitioned and non-partitioned library construction were used to establish the sea otter genome. The final assembly provided 2.426 Gbp of hi...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes8120379

    authors： Jones SJ,Haulena M,Taylor GA,Chan S,Bilobram S,Warren RL,Hammond SA,Mungall KL,Choo C,Kirk H,Pandoh P,Ally A,Dhalla N,Tam AKY,Troussard A,Paulino D,Coope RJN,Mungall AJ,Moore R,Zhao Y,Birol I,Ma Y,Marra M,Jo

    更新日期：2017-12-11 00:00:00

  • Association of XPC Gene Polymorphisms with Colorectal Cancer Risk in a Southern Chinese Population: A Case-Control Study and Meta-Analysis.

    abstract：:Xeroderma pigmentosum group C (XPC) is a key component of the nucleotide excision repair (NER) pathway. Dysfunctional XPC protein may impair NER-mediated DNA repair capacity and further lead to genomic instability and carcinogenesis. Two common nonsynonymous polymorphisms in the XPC gene, Lys939Gln (rs2228001 A > C) a...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes7100073

    authors： Hua RX,Zhu J,Jiang DH,Zhang SD,Zhang JB,Xue WQ,Li XZ,Zhang PF,He J,Jia WH

    更新日期：2016-09-24 00:00:00

  • Using Y-Chromosomal Haplogroups in Genetic Association Studies and Suggested Implications.

    abstract：:Y-chromosomal (Y-DNA) haplogroups are more widely used in population genetics than in genetic epidemiology, although associations between Y-DNA haplogroups and several traits, including cardiometabolic traits, have been reported. In apparently homogeneous populations defined by principal component analyses, there is s...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9010045

    authors： Erzurumluoglu AM,Baird D,Richardson TG,Timpson NJ,Rodriguez S

    更新日期：2018-01-22 00:00:00

  • Spatio-Temporal Roles of ASD-Associated Variants in Human Brain Development.

    abstract：:Transcriptional regulation of the genome arguably provides the basis for the anatomical elaboration and dynamic operation of the human brain. It logically follows that genetic variations affecting gene transcription contribute to mental health disorders, including autism spectrum disorder (ASD). A number of recent stu...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11050535

    authors： Kim Y,An JY

    更新日期：2020-05-11 00:00:00

  • Venous Thromboembolism in Prader-Willi Syndrome: A Questionnaire Survey.

    abstract：:Prader-Willi Syndrome Association (USA) monitors the ongoing health and welfare of individuals with Prader-Willi syndrome (PWS) through active communication with members by membership surveys and data registries. Thromboembolism and blood clots have emerged in clinical studies as significant risk factors for injury an...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10070550

    authors： Manzardo AM,Heinemann J,McManus B,Loker C,Loker J,Butler MG

    更新日期：2019-07-19 00:00:00

  • Targeting MDM4 Splicing in Cancers.

    abstract：:MDM4, an essential negative regulator of the P53 tumor suppressor, is frequently overexpressed in cancer cells that harbor a wild-type P53. By a mechanism based on alternative splicing, the MDM4 gene generates two mutually exclusive isoforms: MDM4-FL, which encodes the full-length MDM4 protein, and a shorter splice va...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes8020082

    authors： Bardot B,Toledo F

    更新日期：2017-02-20 00:00:00

  • Evolutionary Insights of the ZW Sex Chromosomesin Snakes: A New Chapter Added by the AmazonianPuffing Snakes of the Genus Spilotes.

    abstract：:Amazonian puffing snakes (Spilotes; Colubridae) are snakes widely distributed in the Neotropical region. However, chromosomal data are scarce in this group and, when available, are only limited to karyotype description using conventional staining. In this paper, we focused on the process of karyotype evolution and tre...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10040288

    authors： Viana PF,Ezaz T,de Bello Cioffi M,Jackson Almeida B,Feldberg E

    更新日期：2019-04-09 00:00:00

  • Comparative Genomics Analysis of Lactobacillus ruminis from Different Niches.

    abstract：:Lactobacillus ruminis is a commensal motile lactic acid bacterium living in the intestinal tract of humans and animals. Although a few genomes of L. ruminis were published, most of them were animal derived. To explore the genetic diversity and potential niche-specific adaptation changes of L. ruminis, in the current w...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11010070

    authors： Wang S,Yang B,Ross RP,Stanton C,Zhao J,Zhang H,Chen W

    更新日期：2020-01-08 00:00:00

  • Heat Stress Affects H3K9me3 Level at Human Alpha Satellite DNA Repeats.

    abstract：:Satellite DNAs are tandemly repeated sequences preferentially assembled into large arrays within constitutive heterochromatin and their transcription is often activated by stress conditions, particularly by heat stress. Bioinformatic analyses of sequenced genomes however reveal single repeats or short arrays of satell...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11060663

    authors： Feliciello I,Sermek A,Pezer Ž,Matulić M,Ugarković Đ

    更新日期：2020-06-18 00:00:00

  • Analysis of the Full-Length Pyriform Spidroin Gene Sequence.

    abstract：:Spiders often produce multiple types of silk, each with unique properties suiting them to certain tasks and biological functions. Orb-weaver spiders can generate more than six types of silk fibroins, with pyriform silk used to form attachment discs, adhering silk to other surfaces and substances. The unique higher-ord...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10060425

    authors： Wang K,Wen R,Jia Q,Liu X,Xiao J,Meng Q

    更新日期：2019-06-03 00:00:00

  • Identification of Loci Controlling the Dwarfism Trait in the White Sailfin Molly (Poecilia latipinna) Using Genome-Wide Association Studies Based on Genotyping-By-Sequencing.

    abstract：:Dwarfism is a condition defined by low harvest weight in fish, but also results in strange body figures which may have potential for the selective breeding of new ornamental fish strains. The objectives of this study are to reveal the physiological causes of dwarfism and identify the genetic loci controlling this trai...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10060418

    authors： Shao F,Liu J,Ren M,Li J,Bao H,Wu C

    更新日期：2019-05-30 00:00:00

  • The Effect of Tobacco Smoking Differs across Indices of DNA Methylation-Based Aging in an African American Sample: DNA Methylation-Based Indices of Smoking Capture These Effects.

    abstract：:Smoking is one of the leading preventable causes of morbidity and mortality worldwide, prompting interest in its association with DNA methylation-based measures of biological aging. Considerable progress has been made in developing DNA methylation-based measures that correspond to self-reported smoking status. In addi...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11030311

    authors： Lei MK,Gibbons FX,Simons RL,Philibert RA,Beach SRH

    更新日期：2020-03-14 00:00:00

  • Transcriptome Analysis of Two Rice Varieties Contrasting for Nitrogen Use Efficiency under Chronic N Starvation Reveals Differences in Chloroplast and Starch Metabolism-Related Genes.

    abstract：:The nitrogen use efficiency (NUE) of crop plants is limited and enhancing it in rice, a major cereal crop, would be beneficial for farmers and the environment alike. Here we report the genome-wide transcriptome analysis of two rice genotypes, IR 64 (IR64) and Nagina 22 (N22) under optimal (+N) and chronic starvation (...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9040206

    authors： Sinha SK,Sevanthi V AM,Chaudhary S,Tyagi P,Venkadesan S,Rani M,Mandal PK

    更新日期：2018-04-11 00:00:00

  • Characterization of DNA Methylation in Circulating Tumor Cells.

    abstract：:Epigenetics contributes to molecular mechanisms leading to tumor cell transformation and systemic progression of cancer. However, the dynamics of epigenetic remodeling during metastasis remains unexplored. In this context, circulating tumor cells (CTCs) might enable a direct insight into epigenetic mechanisms relevant...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes6041053

    authors： Pixberg CF,Schulz WA,Stoecklein NH,Neves RP

    更新日期：2015-10-21 00:00:00

  • Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy.

    abstract：:Inherited retinal degenerations are the leading cause of blindness in the working population. X-linked retinitis pigmentosa (XLRP), caused by mutations in the Retinitis pigmentosa GTPase regulator (RPGR) gene is one of the more severe forms, and female carriers of RPGR mutations have a variable presentation. A retrosp...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9120643

    authors： Nanda A,Salvetti AP,Clouston P,Downes SM,MacLaren RE

    更新日期：2018-12-18 00:00:00

  • Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain.

    abstract：:In mammals, adenosine (A) to inosine (I) RNA editing is performed by adenosine deaminases acting on RNA (ADAR), ADAR1 and ADAR2 enzymes, encoded by mRNAs that might undergo splicing process. In rat, two splicing events produce several isoforms of ADAR2, called ADAR2a, ADAR2b, ADAR2e, and ADAR2f, but only ADAR2a and AD...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9020079

    authors： Filippini A,Bonini D,Giacopuzzi E,La Via L,Gangemi F,Colombi M,Barbon A

    更新日期：2018-02-08 00:00:00

  • Novel Aspects on The Interaction Between Grapevine and Plasmopara viticola: Dual-RNA-Seq Analysis Highlights Gene Expression Dynamics in The Pathogen and The Plant During The Battle For Infection.

    abstract：:Mgaloblishvili, a Vitis vinifera cultivar, exhibits unique resistance traits against Plasmopara viticola, the downy mildew agent. This offers the unique opportunity of exploring the molecular responses in compatible and incompatible plant-pathogen interaction. In this study, whole transcriptomes of Mgaloblishvili, Pin...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11030261

    authors： Toffolatti SL,De Lorenzis G,Brilli M,Moser M,Shariati V,Tavakol E,Maddalena G,Passera A,Casati P,Pindo M,Cestaro A,Maghradze D,Failla O,Bianco PA,Quaglino F

    更新日期：2020-02-28 00:00:00

  • Review of the Application of Modern Cytogenetic Methods (FISH/GISH) to the Study of Reticulation (Polyploidy/Hybridisation).

    abstract：:The convergence of distinct lineages upon interspecific hybridisation, including when accompanied by increases in ploidy (allopolyploidy), is a driving force in the origin of many plant species. In plant breeding too, both interspecific hybridisation and allopolyploidy are important because they facilitate introgressi...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes1020166

    authors： Chester M,Leitch AR,Soltis PS,Soltis DE

    更新日期：2010-07-02 00:00:00

  • Characterization of the Transcriptome and Gene Expression of Brain Tissue in Sevenband Grouper (Hyporthodus septemfasciatus) in Response to NNV Infection.

    abstract：:Grouper is one of the favorite sea food resources in Southeast Asia. However, the outbreaks of the viral nervous necrosis (VNN) disease due to nervous necrosis virus (NNV) infection have caused mass mortality of grouper larvae. Many aqua-farms have suffered substantial financial loss due to the occurrence of VNN. To b...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes8010031

    authors： Kim JO,Kim JO,Kim WS,Oh MJ

    更新日期：2017-01-13 00:00:00

  • Further Insights into the Architecture of the PN Promoter That Controls the Expression of the bzd Genes in Azoarcus.

    abstract：:The anaerobic degradation of benzoate in bacteria involves the benzoyl-CoA central pathway. Azoarcus/Aromatoleum strains are a major group of anaerobic benzoate degraders, and the transcriptional regulation of the bzd genes was extensively studied in Azoarcus sp. CIB. In this work, we show that the bzdR regulatory gen...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10070489

    authors： Durante-Rodríguez G,Gutiérrez-Del-Arroyo P,Vélez M,Díaz E,Carmona M

    更新日期：2019-06-27 00:00:00

  • Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.

    abstract：:Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogeneous conditions, presenting with a wide clinical spectrum, leading to progressive proximal weakness caused by loss of muscle fibers. MiR-206 is a member of myomiRNAs, a group of miRNAs with important function in skeletal muscle. Our aim is...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes12010085

    authors： Pegoraro V,Angelini C

    更新日期：2021-01-12 00:00:00

  • Cortical Granule Distribution and Expression Pattern of Genes Regulating Cellular Component Size, Morphogenesis, and Potential to Differentiation are Related to Oocyte Developmental Competence and Maturational Capacity In Vivo and In Vitro.

    abstract：:Polyspermia is an adverse phenomenon during mammalian fertilization when more than one sperm fuses with a single oocyte. The egg cell is prepared to prevent polyspermia by, among other ways, producing cortical granules (CGs), which are specialized intracellular structures containing enzymes that aim to harden the zona...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11070815

    authors： Kulus M,Kranc W,Jeseta M,Sujka-Kordowska P,Konwerska A,Ciesiółka S,Celichowski P,Moncrieff L,Kocherova I,Józkowiak M,Kulus J,Wieczorkiewicz M,Piotrowska-Kempisty H,Skowroński MT,Bukowska D,Machatkova M,Hanulakova S,Mozd

    更新日期：2020-07-17 00:00:00

  • Technologies for Pharmacogenomics: A Review.

    abstract：:The continuous development of new genotyping technologies requires awareness of their potential advantages and limitations concerning utility for pharmacogenomics (PGx). In this review, we provide an overview of technologies that can be applied in PGx research and clinical practice. Most commonly used are single nucle...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11121456

    authors： van der Lee M,Kriek M,Guchelaar HJ,Swen JJ

    更新日期：2020-12-04 00:00:00

  • The RabGAP Gene Family in Tomato (Solanum lycopersicum) and Wild Relatives: Identification, Interaction Networks, and Transcriptional Analysis during Plant Development and in Response to Salt Stress.

    abstract：:RabGTPase activating proteins (RabGAP) are responsible for directing the deactivation of vesicular trafficking master regulators associated to plant development, the RabGTPase proteins. Recently, RabGAPs were identified in Arabidopsis and rice, but studies were not yet reported in tomato. Herein, we identified 24 RabG...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10090638

    authors： Madrid-Espinoza J,Salinas-Cornejo J,Ruiz-Lara S

    更新日期：2019-08-23 00:00:00

  • Three New Integration Vectors and Fluorescent Proteins for Use in the Opportunistic Human Pathogen Streptococcus pneumoniae.

    abstract：:Here, we describe the creation of three integration vectors, pPEPX, pPEPY and pPEPZ, for use with the opportunistic human pathogen Streptococcus pneumoniae. The constructed vectors, named PEP for Pneumococcal Engineering Platform (PEP), employ an IPTG-inducible promoter and BglBrick and BglFusion compatible multiple c...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10050394

    authors： Keller LE,Rueff AS,Kurushima J,Veening JW

    更新日期：2019-05-22 00:00:00

  • The Draft Genome of the Endangered Sichuan Partridge (Arborophila rufipectus) with Evolutionary Implications.

    abstract：:The Sichuan partridge (Arborophila rufipectus, Phasianidae, Galliformes) is distributed in south-west China, and classified as endangered grade. To examine the evolution and genomic features of Sichuan partridge, we de novo assembled the Sichuan partridge reference genome. The final draft assembly consisted of approxi...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10090677

    authors： Zhou C,Tu H,Yu H,Zheng S,Dai B,Price M,Wu Y,Yang N,Yue B,Meng Y

    更新日期：2019-09-05 00:00:00

  • Chromatin Dynamics in the Regulation of CFTR Expression.

    abstract：:The contribution of chromatin dynamics to the regulation of human disease-associated loci such as the cystic fibrosis transmembrane conductance regulator (CFTR) gene has been the focus of intensive experimentation for many years. Recent technological advances in the analysis of transcriptional mechanisms across the en...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes6030543

    authors： Gosalia N,Harris A

    更新日期：2015-07-13 00:00:00

  • The Puzzling Fate of a Lupin Chromosome Revealed by Reciprocal Oligo-FISH and BAC-FISH Mapping.

    abstract：:Old World lupins constitute an interesting model for evolutionary research due to diversity in genome size and chromosome number, indicating evolutionary genome reorganization. It has been hypothesized that the polyploidization event which occurred in the common ancestor of the Fabaceae family was followed by a lineag...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11121489

    authors： Bielski W,Książkiewicz M,Šimoníková D,Hřibová E,Susek K,Naganowska B

    更新日期：2020-12-10 00:00:00