AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase

Proceedings of the National Academy of Sciences of the United States of America
Xiaoqing LiuTiansen Li

Abstract

Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is a member of the FK-506-binding protein family expressed specifically in retinal photoreceptors. Mutations in AIPL1 cause Leber congenital amaurosis, a severe early-onset retinopathy that leads to visual impairment in infants. Here we show that knockdown of AIPL1 expression in mice also produces a retinopathy but over a more extended time course. Before any noticeable pathology, there was a reduction in the level of rod cGMP phosphodiesterase (PDE) proportional to the decrease in AIPL1 expression, whereas other photoreceptor proteins were unaffected. Consistent with less PDE in rods, flash responses had a delayed onset, a reduced gain, and a slower recovery of flash responses. We suggest that AIPL1 is a specialized chaperone required for rod PDE biosynthesis. Thus loss of AIPL1 would result in a condition that phenocopies retinal degenerations in the rd mouse and in a subgroup of human patients.

References

Oct 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·S J Pittler, W Baehr
Jun 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·P G Gillespie, J A Beavo
Apr 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·P DeterreM Chabre
Oct 24, 1995·Proceedings of the National Academy of Sciences of the United States of America·T P DryjaK W Yau
Oct 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·N I PirievD B Farber
Nov 1, 1996·Biophysical Journal·F Rieke, D A Baylor
Apr 25, 1997·The Journal of Biological Chemistry·L A Carver, C A Bradfield
Sep 5, 1998·Neuron·S H SnyderP E Burnett
Sep 12, 1998·The Journal of Biological Chemistry·A E GranovskyN O Artemyev
Sep 30, 1998·Proceedings of the National Academy of Sciences of the United States of America·T LiE L Berson
May 6, 1999·Cellular and Molecular Life Sciences : CMLS·S F Göthel, M A Marahiel
Oct 12, 1999·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·G L Blatch, M Lässle
Mar 22, 2000·Proceedings of the National Academy of Sciences of the United States of America·D H HongT Li
May 19, 2000·The Journal of Biological Chemistry·K Terada, M Mori
Jan 12, 2001·Physiological Reviews·G L FainY Koutalos
Apr 3, 2001·American Journal of Human Genetics·T P DryjaE L Berson
Sep 1, 2001·Trends in Molecular Medicine·J P ChappleM E Cheetham
Feb 5, 2002·Annual Review of Physiology·Vadim Y ArshavskyEdward N Pugh
Aug 3, 2002·The Journal of Physiology·Michael L WoodruffGordon L Fain
Sep 6, 2002·Chemico-biological Interactions·John R Petrulis, Gary H Perdew
Oct 11, 2002·Human Molecular Genetics·Dayna T AkeyMelanie M Sohocki
Oct 14, 2003·Proceedings of the National Academy of Sciences of the United States of America·Visvanathan RamamurthyJames B Hurley
Oct 16, 2003·Trends in Biochemical Sciences·Jason C YoungF Ulrich Hartl
Nov 26, 2003·Investigative Ophthalmology & Visual Science·Jacqueline van der SpuyMichael E Cheetham
Feb 6, 2004·The Journal of Biological Chemistry·Mark Steffen HippGunter Schmidtke
May 26, 2004·Cellular Signalling·William B PrattDonald B DeFranco
Jul 9, 2004·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Elena V OlshevskayaAlexander M Dizhoor
Jul 14, 2004·Archives of Ophthalmology·Sharola DharmarajIrene H Maumenee

❮ Previous
Next ❯

Citations

Oct 8, 2011·Biochemistry·Bo Y Baker, Krzysztof Palczewski
Oct 6, 2009·The Journal of Biological Chemistry·Hakim MuradovNikolai O Artemyev
Oct 14, 2008·Human Molecular Genetics·Kenji SakamotoPatsy M Nishina
Jan 1, 2010·Human Molecular Genetics·Lindsay T KirschmanVisvanathan Ramamurthy
May 5, 2005·Molecular and Cellular Biology·Jun YangTiansen Li
Apr 15, 2008·Investigative Ophthalmology & Visual Science·Juan Hidalgo-de-QuintanaJacqueline van der Spuy
Sep 3, 2010·The Journal of Clinical Investigation·Anneke I den HollanderFrans P M Cremers
Feb 22, 2012·PloS One·John S BettJacqueline van der Spuy
Mar 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Xiaoqing LiuTiansen Li
Dec 5, 2013·Human Molecular Genetics·Mònica AguilàMichael E Cheetham
May 27, 2014·Progress in Retinal and Eye Research·Susanne RoosingFrans P M Cremers
Dec 3, 2014·Molecular and Cellular Neurosciences·Pallavi CheguruNikolai O Artemyev
Oct 24, 2013·Journal of Neurochemistry·Pallavi CheguruNikolai O Artemyev
Feb 3, 2009·Biophysical Journal·Xiao-Hong WenClint L Makino
Dec 8, 2004·Brain Research. Molecular Brain Research·Michael A DyerMelanie M Sohocki
Mar 28, 2006·Experimental Eye Research·Jacqueline van der Spuy
Nov 5, 2005·Neuron·Marie E Burns, Vadim Y Arshavsky
Dec 3, 2014·Biochimica Et Biophysica Acta·Cordelia Schiene-Fischer
May 31, 2012·Cellular Logistics·Jeffrey R Christiansen, Visvanathan Ramamurthy
Jul 18, 2008·Progress in Retinal and Eye Research·Anneke I den HollanderFrans P M Cremers
May 21, 2008·Progress in Retinal and Eye Research·Maria KosmaoglouMichael E Cheetham
Jan 19, 2015·Ophthalmology·Jonathan AboshihaMichel Michaelides
Nov 1, 2005·Vision Research·Hakim MuradovNikolai O Artemyev
Mar 24, 2015·PloS One·Juan Hidalgo-de-QuintanaJacqueline van der Spuy
Sep 21, 2016·Scientific Reports·Yuriko MinegishiTakeshi Iwata
Dec 7, 2017·Scientific Reports·Sara BarbatoIvan Conte
Jul 21, 2006·The Journal of Comparative Neurology·Dianna A JohnsonMichael A Dyer
Dec 7, 2006·Ophthalmic Genetics·Ewa BudzynskiPatsy M Nishina
Jun 6, 2013·The Journal of Biological Chemistry·Anurima MajumderNikolai O Artemyev

❮ 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.