• Publications
  • Influence
Regulation of Rod Phototransduction Machinery by Ciliary Neurotrophic Factor
Ciliary neurotrophic factor (CNTF) promotes photoreceptor survival but also suppresses electroretinogram (ERG) responses. This has caused concerns about whether CNTF is detrimental to the function ofExpand
  • 86
  • 7
  • PDF
RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.
PURPOSE To create and evaluate a mouse model of human X-linked juvenile retinoschisis (XLRS) and then investigate whether supplementing with the retinoschisin protein by gene delivery can reverse theExpand
  • 158
  • 5
Depleting Rac1 in mouse rod photoreceptors protects them from photo-oxidative stress without affecting their structure or function
In nonphagocytic cells, Rac1 is a component of NADPH oxidase that produces reactive oxygen species [Ushio-Fukai M (2006) Sci STKE 2006:re8]. Rac1 is expressed abundantly in mammalian retinalExpand
  • 59
  • 4
Analysis of ocular hypopigmentation in Rab38cht/cht mice.
PURPOSE To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome. METHODS Chocolate mice (cht, Rab38(cht/cht)) and control heterozygousExpand
  • 29
  • 3
Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration.
PURPOSE The authors characterized the natural history of a retinoschisin gene knockout (Rs1h-KO) mouse model and evaluated the long-term effects of retinal rescue after AAV(2/2)-CMV-Rs1h geneExpand
  • 94
  • 2
  • PDF
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.
This study evaluated the safety and tolerability of ocular RS1 adeno-associated virus (AAV8-RS1) gene augmentation therapy to the retina of participants with X-linked retinoschisis (XLRS). XLRS is aExpand
  • 52
  • 2
Transgenic expression of constitutively active RAC1 disrupts mouse rod morphogenesis.
PURPOSE Dominant-active RAC1 rescues photoreceptor structure in Drosophila rhodopsin-null mutants, indicating an important role in morphogenesis. This report assesses the morphogenetic effect ofExpand
  • 16
  • 2
Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse
X-linked juvenile retinoschisis (XLRS) is a neurodevelopmental abnormality caused by retinoschisin gene mutations. XLRS is characterized by splitting through the retinal layers and impaired synapticExpand
  • 121
  • 1
Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function.
Gene therapy for inherited retinal diseases has been shown to ameliorate functional and structural defects in both animal models and in human clinical trials. X-linked retinoschisis (XLRS) is anExpand
  • 27
  • 1
Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts.
PURPOSE Mutations of PCDH15, the gene encoding protocadherin 15, cause either nonsyndromic deafness DFNB23 or Usher syndrome type 1F (USH1F) in humans and deafness with balance problems in AmesExpand
  • 41
  • 1
  • PDF