Matches in SemOpenAlex for { <https://semopenalex.org/work/W2544434467> ?p ?o ?g. }
- W2544434467 endingPage "ddw367" @default.
- W2544434467 startingPage "ddw367" @default.
- W2544434467 abstract "Niemann-Pick disease, type C1 (NPC1) is a heritable lysosomal storage disease characterized by a progressive neurological degeneration that causes disability and premature death. A murine model of NPC1 disease (Npc1-/-) displays a rapidly progressing form of NPC1 disease which is characterized by weight loss, ataxia, increased cholesterol storage, loss of cerebellar Purkinje neurons and early lethality. To test the potential efficacy of gene therapy for NPC1, we constructed adeno-associated virus serotype 9 (AAV9) vectors to deliver the NPC1 gene under the transcriptional control of the neuronal-specific (CamKII) or a ubiquitous (EF1a) promoter. The Npc1-/- mice that received a single dose of AAV9-CamKII-NPC1 as neonates (2.6 × 1011GC) or at weaning (1.3 × 1012GC), and the mice that received a single dose of AAV9-EF1a-NPC1 at weaning (1.2 × 1012GC), exhibited an increased life span, characterized by delayed weight loss and diminished motor decline. Cholesterol storage and Purkinje neuron loss were also reduced in the central nervous system of AAV9 treated Npc1-/- mice. Treatment with AAV9-EF1a-NPC1, as compared to AAV9-CamKII-NPC1, resulted in significantly increased survival (mean survival increased from 69 days to 166 and 97 days, respectively) and growth, and reduced hepatic-cholesterol accumulation. Our results provide the first demonstration that gene therapy may represent a therapeutic option for NPC1 patients and suggest that extraneuronal NPC1 expression can further augment the lifespan of the Npc1-/- mice after systemic AAV gene delivery." @default.
- W2544434467 created "2016-11-04" @default.
- W2544434467 creator A5000083189 @default.
- W2544434467 creator A5026435689 @default.
- W2544434467 creator A5036918304 @default.
- W2544434467 creator A5043346952 @default.
- W2544434467 creator A5069616736 @default.
- W2544434467 creator A5079567946 @default.
- W2544434467 creator A5080193192 @default.
- W2544434467 creator A5089723549 @default.
- W2544434467 creator A5090350471 @default.
- W2544434467 date "2016-10-25" @default.
- W2544434467 modified "2023-10-06" @default.
- W2544434467 title "Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1" @default.
- W2544434467 cites W1606662412 @default.
- W2544434467 cites W1964020216 @default.
- W2544434467 cites W1967516512 @default.
- W2544434467 cites W1969271703 @default.
- W2544434467 cites W1973603326 @default.
- W2544434467 cites W1978221944 @default.
- W2544434467 cites W1989347025 @default.
- W2544434467 cites W1999567515 @default.
- W2544434467 cites W2003037431 @default.
- W2544434467 cites W2005740166 @default.
- W2544434467 cites W2006281673 @default.
- W2544434467 cites W2007730758 @default.
- W2544434467 cites W2009467948 @default.
- W2544434467 cites W2012149266 @default.
- W2544434467 cites W2014128251 @default.
- W2544434467 cites W2014894652 @default.
- W2544434467 cites W2026717899 @default.
- W2544434467 cites W2045117117 @default.
- W2544434467 cites W2047586147 @default.
- W2544434467 cites W2052203413 @default.
- W2544434467 cites W2053203314 @default.
- W2544434467 cites W2064901086 @default.
- W2544434467 cites W2065408118 @default.
- W2544434467 cites W2069718976 @default.
- W2544434467 cites W2080336393 @default.
- W2544434467 cites W2087590426 @default.
- W2544434467 cites W2093934810 @default.
- W2544434467 cites W2103009833 @default.
- W2544434467 cites W2110746342 @default.
- W2544434467 cites W2114350791 @default.
- W2544434467 cites W2114808073 @default.
- W2544434467 cites W2123491442 @default.
- W2544434467 cites W2126528483 @default.
- W2544434467 cites W2132617605 @default.
- W2544434467 cites W2141759311 @default.
- W2544434467 cites W2144428362 @default.
- W2544434467 cites W2147612731 @default.
- W2544434467 cites W2156502887 @default.
- W2544434467 cites W2166739815 @default.
- W2544434467 cites W2168016965 @default.
- W2544434467 cites W2170352184 @default.
- W2544434467 cites W2282489886 @default.
- W2544434467 cites W2307447599 @default.
- W2544434467 cites W2339127500 @default.
- W2544434467 cites W2410489761 @default.
- W2544434467 doi "https://doi.org/10.1093/hmg/ddw367" @default.
- W2544434467 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6075521" @default.
- W2544434467 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27798114" @default.
- W2544434467 hasPublicationYear "2016" @default.
- W2544434467 type Work @default.
- W2544434467 sameAs 2544434467 @default.
- W2544434467 citedByCount "34" @default.
- W2544434467 countsByYear W25444344672017 @default.
- W2544434467 countsByYear W25444344672018 @default.
- W2544434467 countsByYear W25444344672019 @default.
- W2544434467 countsByYear W25444344672020 @default.
- W2544434467 countsByYear W25444344672021 @default.
- W2544434467 countsByYear W25444344672022 @default.
- W2544434467 countsByYear W25444344672023 @default.
- W2544434467 crossrefType "journal-article" @default.
- W2544434467 hasAuthorship W2544434467A5000083189 @default.
- W2544434467 hasAuthorship W2544434467A5026435689 @default.
- W2544434467 hasAuthorship W2544434467A5036918304 @default.
- W2544434467 hasAuthorship W2544434467A5043346952 @default.
- W2544434467 hasAuthorship W2544434467A5069616736 @default.
- W2544434467 hasAuthorship W2544434467A5079567946 @default.
- W2544434467 hasAuthorship W2544434467A5080193192 @default.
- W2544434467 hasAuthorship W2544434467A5089723549 @default.
- W2544434467 hasAuthorship W2544434467A5090350471 @default.
- W2544434467 hasBestOaLocation W25444344671 @default.
- W2544434467 hasConcept C102747710 @default.
- W2544434467 hasConcept C104317684 @default.
- W2544434467 hasConcept C111599444 @default.
- W2544434467 hasConcept C126322002 @default.
- W2544434467 hasConcept C134018914 @default.
- W2544434467 hasConcept C169760540 @default.
- W2544434467 hasConcept C2778107364 @default.
- W2544434467 hasConcept C2778163477 @default.
- W2544434467 hasConcept C2778264360 @default.
- W2544434467 hasConcept C2778552423 @default.
- W2544434467 hasConcept C2779134260 @default.
- W2544434467 hasConcept C2779489717 @default.
- W2544434467 hasConcept C2780635549 @default.
- W2544434467 hasConcept C2780906641 @default.