FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013266989> ?p ?o ?g. }

• W2013266989 abstract "Muscular dystrophies are genetically diverse disorders clinically characterized by progressive weakness of muscles of limbs, cranium, or both and by histologic degeneration and regeneration of muscle without abnormal storage of metabolic products. Advances in molecular genetics have revolutionized our understanding of muscular dystrophies, beginning in 1987 with the identification of mutations leading to dystrophin deficiency in Duchenne's muscular dystrophy [1]. Since then, at least 20 genetically distinct forms of limb-girdle muscular dystrophy (LGMD) have been identified [2]. Four subtypes of autosomal recessive LMGD are the result of mutations in genes encoding sarcoglycans (SGs) α, β, γ, and δ, which form a subcomplex of the dystrophin–glycoprotein complex linked to muscle membranes. The LGMD variants due to SG mutations are LGMD2C (δ-SG), LGME2D (α-SG), LGMD2E (β-SG), and LGMD2F (γ-SG) [3]. Although molecular genetics has been a powerful tool in unraveling the pathogenesis of muscular dystrophies, harnessing the therapeutic potential of molecular biology for these devastating muscle diseases has been technically challenging.For autosomal recessive diseases with loss of functional protein (e.g., sarcoglycanopathies and dystrophinopathy), gene replacement therapy is a promising approach. Viral delivery of genes was first performed successfully in children with severe combined immunodeficiency by using retroviruses to deliver normal genes to the patients' bone marrow stem cells, which were removed from the children, infected with the virus (tranduced), and injected into the bloodstream, where they engrafted and restored normal immune cells [4, 5]. Unfortunately, 5 of 20 children treated with retroviral gene therapy developed leukemias because vector insertion into the patients' DNA activated an oncogene, thus exposing one of the potential pitfalls of gene therapy [6]. Other technical obstacles to gene therapy include inefficient gene delivery, immune rejection, and other vector toxicities.To develop gene therapy for muscular dystrophy, viral and nonviral vectors have been used to deliver genes in experimental cellular and animal models [7]. Adeno-associated viruses (AAVs) are promising viral vectors for gene delivery because they are not known to cause human disease; however, AAVs have a small DNA-carrying capacity and therefore cannot be used to carry large genes such as dystrophin. In contrast, the α-SG gene (SGCA) is relatively small and can be packaged into AAVs; therefore, AAV delivery of SGCA to patients with LGMD2D is a potentially achievable goal that Mendell and colleagues are pursuing." @default.
• W2013266989 created "2016-06-24" @default.
• W2013266989 creator A5065093217 @default.
• W2013266989 date "2010-02-26" @default.
• W2013266989 modified "2023-10-01" @default.
• W2013266989 title "A First Step in Viral Gene Therapy for Muscular Dystrophy" @default.
• W2013266989 cites W2001979917 @default.
• W2013266989 cites W2050805515 @default.
• W2013266989 cites W2066180106 @default.
• W2013266989 cites W2107278930 @default.
• W2013266989 cites W2131516307 @default.
• W2013266989 cites W2143729842 @default.
• W2013266989 cites W2145150576 @default.
• W2013266989 cites W2146756838 @default.
• W2013266989 doi "https://doi.org/10.1007/s11910-010-0090-x" @default.
• W2013266989 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2861776" @default.
• W2013266989 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20651902" @default.
• W2013266989 hasPublicationYear "2010" @default.
• W2013266989 type Work @default.
• W2013266989 sameAs 2013266989 @default.
• W2013266989 citedByCount "1" @default.
• W2013266989 countsByYear W20132669892015 @default.
• W2013266989 crossrefType "journal-article" @default.
• W2013266989 hasAuthorship W2013266989A5065093217 @default.
• W2013266989 hasBestOaLocation W20132669892 @default.
• W2013266989 hasConcept C104317684 @default.
• W2013266989 hasConcept C111599444 @default.
• W2013266989 hasConcept C126322002 @default.
• W2013266989 hasConcept C2777300911 @default.
• W2013266989 hasConcept C2778943923 @default.
• W2013266989 hasConcept C2779030066 @default.
• W2013266989 hasConcept C2780394045 @default.
• W2013266989 hasConcept C2909765735 @default.
• W2013266989 hasConcept C54355233 @default.
• W2013266989 hasConcept C71924100 @default.
• W2013266989 hasConcept C86803240 @default.
• W2013266989 hasConceptScore W2013266989C104317684 @default.
• W2013266989 hasConceptScore W2013266989C111599444 @default.
• W2013266989 hasConceptScore W2013266989C126322002 @default.
• W2013266989 hasConceptScore W2013266989C2777300911 @default.
• W2013266989 hasConceptScore W2013266989C2778943923 @default.
• W2013266989 hasConceptScore W2013266989C2779030066 @default.
• W2013266989 hasConceptScore W2013266989C2780394045 @default.
• W2013266989 hasConceptScore W2013266989C2909765735 @default.
• W2013266989 hasConceptScore W2013266989C54355233 @default.
• W2013266989 hasConceptScore W2013266989C71924100 @default.
• W2013266989 hasConceptScore W2013266989C86803240 @default.
• W2013266989 hasLocation W20132669891 @default.
• W2013266989 hasLocation W20132669892 @default.
• W2013266989 hasLocation W20132669893 @default.
• W2013266989 hasLocation W20132669894 @default.
• W2013266989 hasOpenAccess W2013266989 @default.
• W2013266989 hasPrimaryLocation W20132669891 @default.
• W2013266989 hasRelatedWork W1951895633 @default.
• W2013266989 hasRelatedWork W1969715244 @default.
• W2013266989 hasRelatedWork W2028019952 @default.
• W2013266989 hasRelatedWork W2052954109 @default.
• W2013266989 hasRelatedWork W2055254549 @default.
• W2013266989 hasRelatedWork W2059851290 @default.
• W2013266989 hasRelatedWork W2088508307 @default.
• W2013266989 hasRelatedWork W2093388371 @default.
• W2013266989 hasRelatedWork W2120395097 @default.
• W2013266989 hasRelatedWork W2136603766 @default.
• W2013266989 hasRelatedWork W2319892141 @default.
• W2013266989 hasRelatedWork W2409245952 @default.
• W2013266989 hasRelatedWork W2425606488 @default.
• W2013266989 hasRelatedWork W2596906414 @default.
• W2013266989 hasRelatedWork W2746462410 @default.
• W2013266989 hasRelatedWork W2922072440 @default.
• W2013266989 hasRelatedWork W3023973096 @default.
• W2013266989 hasRelatedWork W3030186330 @default.
• W2013266989 hasRelatedWork W3111385522 @default.
• W2013266989 hasRelatedWork W3145312386 @default.
• W2013266989 isParatext "false" @default.
• W2013266989 isRetracted "false" @default.
• W2013266989 magId "2013266989" @default.
• W2013266989 workType "article" @default.