PRPH2/RDS and ROM-1: Historical context, current views and future considerations

Progress in Retinal and Eye Research
Michael W StuckMuna I Naash

Abstract

Peripherin 2 (PRPH2), also known as RDS (retinal degeneration slow) is a photoreceptor specific glycoprotein which is essential for normal photoreceptor health and vision. PRPH2/RDS is necessary for the proper formation of both rod and cone photoreceptor outer segments, the organelle specialized for visual transduction. When PRPH2/RDS is defective or absent, outer segments become disorganized or fail to form entirely and the photoreceptors subsequently degenerate. Multiple PRPH2/RDS disease-causing mutations have been found in humans, and they are associated with various blinding diseases of the retina such as macular degeneration and retinitis pigmentosa, the vast majority of which are inherited dominantly, though recessive LCA and digenic RP have also been associated with RDS mutations. Since its initial discovery, the scientific community has dedicated a considerable amount of effort to understanding the molecular function and disease mechanisms of PRPH2/RDS. This work has led to an understanding of how the PRPH2/RDS molecule assembles into complexes and functions as a necessary part of the machinery that forms new outer segment discs, as well as leading to fundamental discoveries about the mechanisms that underlie OS biogen...Continue Reading

References

Nov 15, 1979·The Journal of Comparative Neurology·L D Carter-Dawson, M M LaVail
Nov 15, 1979·The Journal of Comparative Neurology·L D Carter-Dawson, M M LaVail
Feb 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·G ConnellR S Molday
Sep 1, 1990·Experimental Eye Research·I NirD S Papermaster
Nov 1, 1987·The Journal of Cell Biology·M S Eckmiller
May 21, 1974·Biochemistry·D S Papermaster, W J Dreyer
Apr 1, 1967·The Journal of Cell Biology·R W Young
Jul 27, 1984·Neuroscience Letters·J H Reuter, S Sanyal
Apr 1, 1980·The Journal of Comparative Neurology·R H SteinbergD H Anderson
Nov 1, 1982·The Journal of Cell Biology·D J Roof, J E Heuser
Jan 1, 1981·Neuroscience Letters·S Sanyal, H G Jansen
Feb 1, 1994·Proceedings of the National Academy of Sciences of the United States of America·C Portera-CailliauR Adler
Jul 1, 1993·The Journal of Cell Biology·A VelascoM G Farquhar
Nov 26, 1996·Proceedings of the National Academy of Sciences of the United States of America·A F Goldberg, R S Molday
May 1, 1997·Somatic Cell and Molecular Genetics·T ChengM I Naash
Apr 5, 2000·The Journal of Biological Chemistry·J D WrigleyJ B Findlay
Aug 5, 2000·Science·K PalczewskiM Miyano
Apr 12, 2001·The Journal of Biological Chemistry·C J LoewenR S Molday
Feb 21, 2002·Vision Research·B ChangJ R Heckenlively

❮ Previous
Next ❯

Citations

Apr 7, 2017·The Journal of Cell Biology·Raquel Y SalinasVadim Y Arshavsky
Jul 3, 2018·Human Molecular Genetics·Rahel ZulligerMuna I Naash
Nov 21, 2017·Retinal Cases & Brief Reports·Juliet O EssilfieDavid Sarraf
Jan 17, 2019·The Journal of Biological Chemistry·Guoxin YingWolfgang Baehr
May 28, 2019·International Journal of Molecular Sciences·Michalitsa DiakatouVasiliki Kalatzis
Apr 16, 2020·Investigative Ophthalmology & Visual Science·Nathan J NadolskiJennifer C Hocking
Jun 25, 2020·Ophthalmic Surgery, Lasers & Imaging Retina·Chang Sup Lee, Monique Leys
Jun 13, 2020·Human Mutation·Melissa J ReevesRobert B Hufnagel
Jul 22, 2020·Investigative Ophthalmology & Visual Science·Malia M EdwardsGerard A Lutty
Apr 2, 2016·Human Molecular Genetics·O N Phuong NguyenElvir Becirovic
May 13, 2017·The Journal of Cell Biology·Cataldo SchietromaChristine Petit
Apr 2, 2020·Nature Communications·Rie UmedaOsamu Nureki
Feb 12, 2020·Proceedings of the National Academy of Sciences of the United States of America·Michelle L MilsteinAndrew F X Goldberg
Jan 10, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Dibyendu ChakrabortyMuna I Naash
May 16, 2020·Frontiers in Cellular Neuroscience·Tylor R LewisMuna I Naash
Oct 6, 2020·Therapeutic Advances in Ophthalmology·Cécile MéjécaseMariya Moosajee
Aug 5, 2020·Seminars in Cell & Developmental Biology·Holly Y ChenAnand Swaroop
Mar 16, 2021·Progress in Retinal and Eye Research·Elon H C van Dijk, Camiel J F Boon
Mar 23, 2021·Frontiers in Cell and Developmental Biology·Laura Sánchez-BellverGemma Marfany
Jun 12, 2021·Investigative Ophthalmology & Visual Science·Janet R SparrowRuben Jauregui

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Advances in Experimental Medicine and Biology
Michael W StuckMuna I Naash
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
I NirG H Travis
© 2022 Meta ULC. All rights reserved