Gene Therapy Successfully Delays Degeneration in a Mouse Model ofPDE6A-Linked Retinitis Pigmentosa (RP43)

2017 ◽  
Vol 28 (12) ◽  
pp. 1180-1188 ◽  
Author(s):  
Christian Schön ◽  
Vithiyanjali Sothilingam ◽  
Regine Mühlfriedel ◽  
Marina Garcia Garrido ◽  
Susanne C. Beck ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa

In vivo potency testing of subretinal rAAV5.hCNGB1 gene therapy in the Cngb1 knockout mouse model of retinitis pigmentosa

2021 ◽  
Author(s):  
Johanna E Wagner ◽  
Lena Zobel ◽  
Maximilian Joachim Gerhardt ◽  
Catherine R O'Riordan ◽  
Amy Frederick ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Knockout Mouse ◽  
Knockout Mouse Model

scholarly journals AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa

Gene Therapy ◽  
2015 ◽  
Vol 22 (8) ◽  
pp. 619-627 ◽  
Author(s):  
H Zhong ◽  
A Eblimit ◽  
Y Moayedi ◽  
S L Boye ◽  
V A Chiodo ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Knockout Mouse ◽  
Knockout Mouse Model ◽  
Leber Congenital Amaurosis

scholarly journals Improved Retinal Function in a Mouse Model of Dominant Retinitis Pigmentosa Following AAV-delivered Gene Therapy

2009 ◽  
Vol 17 (4) ◽  
pp. 593-599 ◽  
Author(s):  
Naomi Chadderton ◽  
Sophia Millington-Ward ◽  
Arpad Palfi ◽  
Mary O'Reilly ◽  
Gearóid Tuohy ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Retinal Function

scholarly journals CNTF Gene Therapy Confers Lifelong Neuroprotection in a Mouse Model of Human Retinitis Pigmentosa

2015 ◽  
Vol 23 (8) ◽  
pp. 1308-1319 ◽  
Author(s):  
Daniel M Lipinski ◽  
Alun R Barnard ◽  
Mandeep S Singh ◽  
Chris Martin ◽  
Edward J Lee ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa

scholarly journals Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa

2012 ◽  
Vol 21 (20) ◽  
pp. 4486-4496 ◽  
Author(s):  
S. Koch ◽  
V. Sothilingam ◽  
M. Garcia Garrido ◽  
N. Tanimoto ◽  
E. Becirovic ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa

scholarly journals Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model

2011 ◽  
Vol 108 (45) ◽  
pp. 18476-18481 ◽  
Author(s):  
L. Jiang ◽  
H. Zhang ◽  
A. M. Dizhoor ◽  
S. E. Boye ◽  
W. W. Hauswirth ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Rna Interference ◽  
Mouse Model ◽  
Retinitis Pigmentosa

scholarly journals Insulin receptor activation by proinsulin preserves synapses and vision in retinitis pigmentosa

2020 ◽  
Author(s):  
Alonso Sánchez-Cruz ◽  
Alberto Hernández-Pinto ◽  
Concepción Lillo ◽  
Carolina Isiegas ◽  
Miguel Marchena ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Insulin Receptor ◽  
Visual Function ◽  
Synaptic Connectivity ◽  
Receptor Signaling ◽  
Therapy Strategy ◽  
Insulin Receptor Signaling ◽  
Gene Therapy Strategy

Abstract Background Synaptic loss, neuronal cell death, and circuit remodeling are common features of central nervous system neurodegenerative disorders. Retinitis pigmentosa, the leading cause of inherited blindness, is a group of retinal dystrophies characterized by photoreceptor cell dysfunction and death. The insulin receptor, a key controller of metabolism, also regulates neuronal survival and synaptic formation, maintenance, and activity. Indeed, deficient insulin receptor signaling has been implicated in several brain neurodegenerative pathologies. Methods We employed a gene therapy strategy to enhance insulin receptor signaling in the Pde6b rd10/rd10 mouse model of RP by using recombinant AAV serotype 2/1 viral vectors bearing cDNA from the human proinsulin gene. Insulin receptor expression and signaling were analyzed by PCR and immunostaining. Synaptic connectivity was evaluated by electron microscopy and immunostaining. Proinsulin levels were measured by ELISA. Photoreceptor preservation was assayed by histological analysis and visual function was assessed by electroretinography and optomotor test. Results We present evidence linking impaired insulin receptor signaling with retinitis pigmentosa. We found a selective decrease in the levels of the insulin receptor and its downstream effector phospho-S6 in retinal horizontal cell axons in the rd10 mouse model of retinitis pigmentosa, as well as aberrant synapses between rod photoreceptors and the postsynaptic terminals of horizontal and bipolar cells. A gene therapy strategy to induce sustained proinsulin production restored retinal insulin receptor signaling, by increasing S6 phosphorylation, without peripheral metabolic consequences. Moreover, proinsulin preserved photoreceptor synaptic connectivity and prolonged visual function as determined by electroretinography and optomotor tests. Conclusion These findings point to a disease-modifying role of insulin receptor and support the therapeutic potential of proinsulin in retinitis pigmentosa.

scholarly journals A transgenic mouse model for gene therapy of rhodopsin-linked Retinitis Pigmentosa

2008 ◽  
Vol 48 (3) ◽  
pp. 386-391 ◽  
Author(s):  
Mary O’Reilly ◽  
Sophia Millington-Ward ◽  
Arpad Palfi ◽  
Naomi Chadderton ◽  
Thérèse Cronin ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Transgenic Mouse ◽  
Transgenic Mouse Model
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