AP5B1

Last update 08 May 2025

Basic Info

Synonyms

adaptor related protein complex 5 subunit beta 1, Adaptor-related protein complex 5 beta subunit, AP-5

+ [5]

Introduction

As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport.

100 Clinical Results associated with AP5B1

100 Translational Medicine associated with AP5B1

0 Patents (Medical) associated with AP5B1

432

Literatures (Medical) associated with AP5B1

01 Apr 2025·The American Journal of Human Genetics

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Article

Author: Lin, Siying ; Perea-Romero, Irene ; De Angeli, Pietro ; Browning, Andrew C ; Kohl, Susanne ; Tsilimbaris, Miltiadis K ; Ben-Yosef, Tamar ; Kaminska, Karolina ; Gränse, Lotta ; Feltgen, Nicolas ; Ayuso, Carmen ; Barberán-Martínez, Pilar ; Mahroo, Omar A ; Moye, Abigail R ; De Baere, Elfride ; Banin, Eyal ; Ávila Fernández, Almudena ; Arno, Gavin ; Koutroumanou, Louisa ; Vermeer, Sascha ; Madhusudhan, Savita ; Cancellieri, Francesca ; Webster, Andrew R ; Papadakis, George ; Moulin, Alexandre P ; Eden, James ; Sedgwick, Fay ; Haack, Tobias B ; Andréasson, Sten ; Sergouniotis, Panagiotis I ; Poths, Karin ; Mazzola, Pascale ; Bauwens, Miriam ; Salom, David ; Sharon, Dror ; Janeschitz-Kriegl, Lucas ; Jacob, Julie ; Leroy, Bart P ; Pfau, Maximilian ; Tran, Hoai V ; Kuehlewein, Laura ; Rivolta, Carlo ; Millán, José M ; Zuleger, Theresia ; Santos, Cristina ; Scholl, Hendrik P N ; Hayman, Tamar ; Quinodoz, Mathieu ; Van den Broeck, Filip ; Fernández-Caballero, Lidia ; García-García, Gema ; Sousa, Ana Berta ; Coutinho Santos, Luisa ; Terbeek, Frédérique ; Vaclavik, Veronika ; Schlaeger, Regina

Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majority of molecular diagnoses, other genes associated with IRD await molecular identification. In this study, we uncover bi-allelic assortments of 23 different (22 loss-of-function) variants in AP5Z1, AP5M1, and AP5B1 as independent causes of recessive IRD in members of 19 families from nine countries. Affected individuals, regardless of their genotypes, exhibit a specific form of macular degeneration, sometimes presenting in association with extraocular features. All three genes encode different subunits of the vesicular fifth adaptor protein (AP-5) complex, a component of the intracellular trafficking system involved in maintaining cellular homeostasis and ensuring the proper functioning of lysosomal pathways. The retinal pigment epithelium (RPE), a cellular monolayer located posteriorly to the neural retina, is characterized by intense lysosomal and phagocytic activity. Immunostaining of RPE cells revealed a punctate pattern of AP5Z1, AP5M1, and AP5B1 staining and co-localization with markers of late endosomes and the Golgi, suggesting a role of AP-5 in the normal physiology of this tissue. Overall, the identification of independently acting variants in three distinct proteins within the same macromolecular complex reveals AP-5 as having an important function in the preservation and maintenance of normal macular functions.

14 Mar 2025·ACS Pharmacology & Translational Science

Nitric Oxide Activatable Photodynamic Therapy Agents Based on BODIPY–Copper Complexes

Article

Author: Boyacı, Ayşe İlayda ; Gülseren, Gülcihan ; Bakırcı, Melike Ebrar ; Şeker, Merve ; Cakmak, Yusuf ; Ilhan, Huriye

In this work, two BODIPY-bipyridine Cu²⁺ ion complexes for targeted nitric oxide (NO) activatable photodynamic therapy are reported. The design is based on the relatively high concentration of these small gas molecules in the tumor microenvironment. Copper(II) ion complexation to the photosensitizer renders it in the OFF position in terms of fluorescence and reactive oxygen species (ROS) production. The interaction of the Cu²⁺-BODIPY complex with nitric oxide interchanges both fluorescence and therapy mode into the ON state through the detachment of the cation. Therefore, targeting the cancer cells would be expected to be achieved in this way. Moreover, one of the compounds, AP5, has increased aqueous solubility due to the polar structure. The designed structures also have near-infrared (IR) absorption ability up to 800 nm aqueous solutions. In addition, through using in vitro cell culture studies with HeLa and RAW264.7 cell lines, we confirmed that AP5 and AP6 could be activated in the presence of NO, and cell photocytotoxicity occurred extensively compared with the NO-absent cells. We believe that this work will provide new opportunities for the increased efficacy of the photodynamic treatment of cancer and smart photosensitizer design.

01 Feb 2025·Analytical Biochemistry

Optimization of a high throughput screening platform to identify inhibitors of asymmetric diadenosine polyphosphatases

Article

Author: Frick, David N ; Thomson, Joshua G ; Ramos, Julian N. ; O'Handley, Suzanne F. ; Ramos, Julian N ; Rauf, Abdullah A. ; Wardle, Zoe P. ; O'Handley, Suzanne F ; Sheibley, Daniel J ; Bock, Chase R. ; Rauf, Abdullah A ; Bock, Chase R ; Wardle, Zoe P ; Sheibley, Daniel J. ; Shittu, Mujidat ; Thomson, Joshua G. ; Frick, David N. ; O’Handley, Suzanne F.

When stressed, cells synthesize di-adenosine polyphosphates (Ap_nA), and cellular organisms also express proteins that degrade these compounds to release ATP. Most of these proteins are members of the nudix hydrolase superfamily, and several are involved in bacterial pathogenesis, neurodevelopment, and cancer. The goal of this project is to assist in the discovery of inhibitors of these enzymes that could be used to study Ap_nA function and the cellular role of these nudix enzymes. Because these enzymes cleave Ap₄A and Ap₅A to produce ATP, two standard ATP detection techniques were optimized and compared here for their suitability for high throughput screening. In the first assay, cleavage is monitored by coupling to a reaction catalyzed by firefly luciferase. In the second assay, cleavage is detected by coupling to hexokinase, glucose 6-phosphate dehydrogenase, and diaphorase. Although the former assay was more sensitive, the latter was more reproducible, linear, and suitable for screening and kinetic analyses. The assays were used to characterize the kinetics of reactions catalyzed by various nudix enzymes isolated from E. coli, humans, and Mycobacterium tuberculosis, the bacterium that causes tuberculosis. Results reveal subtle differences between the proteins that might be exploited to identify specific small molecule inhibitors.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

AP5B1

Basic Info

Related

Analysis