Mutations in PDE6A, the Gene Encoding the α-Subunit of Rod Photoreceptor Cgmp-Specific Phosphodiesterase, are Rare in Autosomal Recessive Retinitis Pigmentosa

1997 ◽  
pp. 237-244 ◽  
Author(s):  
M. Meins ◽  
A. Janecke ◽  
C. Marschke ◽  
M. J. Denton ◽  
G. Kumaramanickavel ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Rod Photoreceptor ◽  
Gene Encoding ◽  
Α Subunit

scholarly journals Targeting of the NRL Pathway as a Therapeutic Strategy to Treat Retinitis Pigmentosa

2020 ◽  
Vol 9 (7) ◽  
pp. 2224 ◽  
Author(s):  
Spencer M. Moore ◽  
Dorota Skowronska-Krawczyk ◽  
Daniel L. Chao
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Therapeutic Strategy ◽  
Leucine Zipper ◽  
Retinal Dystrophy ◽  
Rod Photoreceptor ◽  
Cone Photoreceptor ◽  
Future Directions ◽  
Inherited Retinal Dystrophy ◽  
Visual Acuity Loss

Retinitis pigmentosa (RP) is an inherited retinal dystrophy (IRD) with a prevalence of 1:4000, characterized by initial rod photoreceptor loss and subsequent cone photoreceptor loss with accompanying nyctalopia, visual field deficits, and visual acuity loss. A diversity of causative mutations have been described with autosomal dominant, autosomal recessive, and X-linked inheritance and sporadic mutations. The diversity of mutations makes gene therapy challenging, highlighting the need for mutation-agnostic treatments. Neural leucine zipper (NRL) and NR2E3 are factors important for rod photoreceptor cell differentiation and homeostasis. Germline mutations in NRL or NR2E3 leads to a loss of rods and an increased number of cones with short wavelength opsin in both rodents and humans. Multiple groups have demonstrated that inhibition of NRL or NR2E3 activity in the mature retina could endow rods with certain properties of cones, which prevents cell death in multiple rodent RP models with diverse mutations. In this review, we summarize the literature on NRL and NR2E3, therapeutic strategies of NRL/NR2E3 modulation in preclinical RP models, as well as future directions of research. In summary, inhibition of the NRL/NR2E3 pathway represents an intriguing mutation agnostic and disease-modifying target for the treatment of RP.

Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

1995 ◽  
Vol 5 (3) ◽  
pp. 228-234 ◽  
Author(s):  
Mònica Bayés ◽  
Mara Giordano ◽  
Susana Balcells ◽  
Daniel Grinberg ◽  
Llusïsa Vilageliu ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Tandem Duplication ◽  
Β Subunit ◽  
Gene Encoding

scholarly journals Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

2010 ◽  
Vol 87 (2) ◽  
pp. 258-264 ◽  
Author(s):  
Liron Dvir ◽  
Gassoub Srour ◽  
Rasmi Abu-Ras ◽  
Benjamin Miller ◽  
Stavit A. Shalev ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Gene Encoding ◽  
Gamma Subunit ◽  
Cgmp Phosphodiesterase

scholarly journals Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

1995 ◽  
Vol 92 (8) ◽  
pp. 3249-3253 ◽  
Author(s):  
M. E. McLaughlin ◽  
T. L. Ehrhart ◽  
E. L. Berson ◽  
T. P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Beta Subunit ◽  
Mutation Spectrum ◽  
Gene Encoding

Mutation of the gene encoding cellular retinaldehyde–binding protein in autosomal recessive retinitis pigmentosa

1997 ◽  
Vol 17 (2) ◽  
pp. 198-200 ◽  
Author(s):  
Marion A. Maw ◽  
Breandan Kennedy ◽  
Allison Knight ◽  
Robyn Bridges ◽  
Karen E. Roth ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Binding Protein ◽  
Gene Encoding

scholarly journals Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

1995 ◽  
Vol 92 (22) ◽  
pp. 10177-10181 ◽  
Author(s):  
T. P. Dryja ◽  
J. T. Finn ◽  
Y. W. Peng ◽  
T. L. McGee ◽  
E. L. Berson ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Alpha Subunit ◽  
Gene Encoding ◽  
Gated Channel

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1992 ◽  
Vol 1 (3) ◽  
pp. 209-213 ◽  
Author(s):  
Philip J. Rosenfeld ◽  
Glenn S. Cowley ◽  
Terri L. McGee ◽  
Michael A. Sandberg ◽  
Eliot L. Berson ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Null Mutation ◽  
Rod Photoreceptor ◽  
Rhodopsin Gene

Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase

1995 ◽  
Vol 11 (4) ◽  
pp. 468-471 ◽  
Author(s):  
Sherleen H. Huang ◽  
Steven J. Pittler ◽  
Xizhong Huang ◽  
Luanne Oliveira ◽  
Eliot L. Berson ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Α Subunit ◽  
Cgmp Phosphodiesterase

Structure and upstream region characterization of the human gene encoding rod photoreceptor cGMP phosphodiesterase α-subunit

1998 ◽  
Vol 10 (3) ◽  
pp. 235-250 ◽  
Author(s):  
Mohamed K. Mohamed ◽  
Russell E. Taylor ◽  
Douglas S. Feinstein ◽  
Xizhong Huang ◽  
Steven J. Pittler
Keyword(s):  
Human Gene ◽  
Upstream Region ◽  
Rod Photoreceptor ◽  
Gene Encoding ◽  
Α Subunit ◽  
Cgmp Phosphodiesterase
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