The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.

Investigative Ophthalmology & Visual Science
Juan Hidalgo-de-QuintanaJacqueline van der Spuy

Abstract

AIPL1 mutations cause the severe inherited blindness Leber congenital amaurosis (LCA). The similarity of AIPL1 to tetratricopeptide repeat (TPR) cochaperones that interact with the chaperone Hsp90 and the ability of AIPL1 to suppress the aggregation of NUB1 fragments in a chaperone-like manner suggest that AIPL1 might function as part of a chaperone heterocomplex facilitating retinal protein maturation. In this study the interaction of AIPL1 with molecular chaperones is revealed and functionally characterized. AIPL1-interacting proteins were identified using a yeast two-hybrid system, and the effect of AIPL1 pathogenic mutations and sequence requirements mediating the identified interactions were investigated. The interactions were validated by a comprehensive set of biochemical assays, and the ability of the AIPL1-binding partners to cooperate with AIPL1 in the suppression of NUB1 fragment aggregation was assessed. AIPL1 interacts with the molecular chaperones Hsp90 and Hsp70. Mutations within the TPR domain of AIPL1 or removal of the chaperone TPR acceptor site abolished the interactions. Importantly, LCA-causing mutations in AIPL1 also compromised these interactions, suggesting that the essential function of AIPL1 in photore...Continue Reading

References

Mar 25, 1992·Nucleic Acids Research·D GietzR H Schiestl
Jul 1, 1995·Trends in Biochemical Sciences·J R LambP Hieter
Dec 6, 1996·Science·S BoseJ Buchner
Dec 1, 1996·Nucleic Acids Research·N KuzhandaiveluE Seto
Apr 4, 1997·The Journal of Biological Chemistry·M Tien, D Ma
Apr 25, 1997·The Journal of Biological Chemistry·L A Carver, C A Bradfield
Jul 11, 1998·The Journal of Biological Chemistry·J C YoungF U Hartl
May 14, 1999·Trends in Biochemical Sciences·J Buchner
Jun 30, 2000·Molecular Genetics and Metabolism·M M SohockiS P Daiger
Aug 30, 2000·The Journal of Biological Chemistry·D R Bell, A Poland
Mar 22, 2001·The Journal of Biological Chemistry·K KitoT Kamitani
Jun 23, 2001·Mammalian Genome : Official Journal of the International Mammalian Genome Society·M M SohockiS P Daiger
Oct 5, 2001·The Journal of Biological Chemistry·T KamitaniE T Yeh
Oct 11, 2002·Human Molecular Genetics·Dayna T AkeyMelanie M Sohocki
Jan 23, 2003·Proceedings of the National Academy of Sciences of the United States of America·Cindy R SinarsJon Clardy
Jun 21, 2003·The Journal of Biological Chemistry·Tomoaki TanakaTetsu Kamitani
Oct 14, 2003·Proceedings of the National Academy of Sciences of the United States of America·Visvanathan RamamurthyJames B Hurley
Oct 15, 2003·The Journal of Cell Biology·Masato YanoMasataka Mori
Feb 6, 2004·The Journal of Biological Chemistry·Mark Steffen HippGunter Schmidtke
May 26, 2004·Proceedings of the National Academy of Sciences of the United States of America·Beili WuZihe Rao
Sep 15, 2004·Proceedings of the National Academy of Sciences of the United States of America·Xiaoqing LiuTiansen Li
Sep 15, 2004·Proceedings of the National Academy of Sciences of the United States of America·Visvanathan RamamurthyJames B Hurley
Oct 23, 2004·Cell Stress & Chaperones·Amerigo CarrelloThomas Ratajczak
Jan 18, 2006·Methods in Enzymology·R Jane EvansMichael E Cheetham
Mar 28, 2006·Experimental Eye Research·Jacqueline van der Spuy

❮ Previous
Next ❯

Citations

Feb 22, 2012·PloS One·John S BettJacqueline van der Spuy
Dec 5, 2013·Human Molecular Genetics·Mònica AguilàMichael E Cheetham
Sep 23, 2011·Journal of Neuropathology and Experimental Neurology·Kunikazu TanjiKoichi Wakabayashi
Dec 3, 2015·European Journal of Human Genetics : EJHG·Galuh D N AstutiFrans P M Cremers
Dec 3, 2014·Biochimica Et Biophysica Acta·Cordelia Schiene-Fischer
Oct 20, 2011·Biochimica Et Biophysica Acta·Jill L Johnson
May 21, 2008·Progress in Retinal and Eye Research·Maria KosmaoglouMichael E Cheetham
Oct 5, 2013·Toxicology and Applied Pharmacology·Dan ZhouAndrew J Sonderfan
Mar 24, 2015·PloS One·Juan Hidalgo-de-QuintanaJacqueline van der Spuy
Aug 22, 2009·Biopolymers·Abbey Zuehlke, Jill L Johnson
Jun 6, 2013·The Journal of Biological Chemistry·Anurima MajumderNikolai O Artemyev
Jul 26, 2017·Proceedings of the National Academy of Sciences of the United States of America·Ravi P YadavNikolai O Artemyev
Apr 9, 2020·Cells·Paige A WinklerSimon M Petersen-Jones
Sep 1, 2017·PloS One·Mark P KrebsPatsy M Nishina
Aug 21, 2020·The Journal of Biological Chemistry·Annika N BoehmAnnette Aichem
Oct 28, 2020·Investigative Ophthalmology & Visual Science·Ke JiangAnand Swaroop
Dec 4, 2020·The Application of Clinical Genetics·Srikanta Kumar PadhySubhadra Jalali
Feb 20, 2013·Biochemistry·Jing LiJohannes Buchner

❮ 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

Biochemical and Biophysical Research Communications
Koichi KanayaT Kamitani
Progress in Retinal and Eye Research
Anneke I den HollanderFrans P M Cremers
The Biochemical Journal
Stefan H MillsonChrisostomos Prodromou
The Journal of Biological Chemistry
Michael G Catlett, Kenneth B Kaplan
© 2022 Meta ULC. All rights reserved