Topic
BORC complex
About: BORC complex is a research topic. Over the lifetime, 3 publications have been published within this topic receiving 34 citations.
Papers
TL;DR: It is shown that a spontaneous truncation mutation in the mouse Borcs7 gene results in progressive axonal dystrophy with dramatic impairment of motor function and identifies BORCS7 as a central factor in axonal transport of lysosomes and a possible target for improving disease-related disturbances in this important function.
43 citations
TL;DR: It is proposed that the endosome–primary cilia pathway is an underappreciated hub in the genesis and mechanisms of neurodevelopmental disorders and could offer novel insight into mechanisms underlying behavioral defects.
Abstract: The biogenesis of lysosome-related organelles complex-1 (BLOC-1) and the bloc-one-related complex (BORC) are the cytosolic protein complexes required for specialized membrane protein traffic along the endocytic route and the spatial distribution of endosome-derived compartments, respectively. BLOC-1 and BORC complex subunits and components of their interactomes have been associated with the risk and/or pathomechanisms of neurodevelopmental disorders. Thus, cellular processes requiring BLOC-1 and BORC interactomes have the potential to offer novel insight into mechanisms underlying behavioral defects. We focus on interactions between BLOC-1 or BORC subunits with the actin and microtubule cytoskeleton, membrane tethers, and SNAREs. These interactions highlight requirements for BLOC-1 and BORC in membrane movement by motors, control of actin polymerization, and targeting of membrane proteins to specialized cellular domains such as the nerve terminal and the primary cilium. We propose that the endosome-primary cilia pathway is an underappreciated hub in the genesis and mechanisms of neurodevelopmental disorders. © 2017 Wiley Periodicals, Inc. Develop Neurobiol 78: 311-330, 2018.
29 citations
Patent•
18 Mar 2021
TL;DR: In this article, methods and compositions useful for identification of potential therapeutic agents for the treatment of a NF1- or RAS-associated disorder are presented, as well as methods and composition useful for treatment of NF1/RAS associated disorders.
Abstract: Disclosed herein are methods and compositions useful for identification of potential therapeutic agents for the treatment of a NF1- or RAS-associated disorder. Disclosed herein are also methods and compositions useful for the treatment of a NF1- or RAS-associated disorder.
Performance Metrics
| Year | Papers |
|---|---|
| 2021 | 1 |
| 2018 | 2 |