Publications by authors named "J L Hubbs"
Article Synopsis
- The study presents a high-throughput screening method to find therapies for a rare childhood disease (AP-4 deficiency) that causes mislocalization of a protein called ATG9A.
- Researchers screened over 28,000 small molecules and discovered a promising compound, BCH-HSP-C01, that can correct the protein's abnormal movement in various disease models, including patient cells.
- The findings also include insights into how BCH-HSP-C01 works on a molecular level, laying the groundwork for future research related to treatment options for AP-4 deficiency.
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. SSADHD leads to impaired GABA metabolism and results in accumulation of GABA and γ-hydroxybutyrate (GHB), which alter neurotransmission and are thought to lead to neurobehavioral symptoms. However, why increased inhibitory neurotransmitters lead to seizures remains unclear.
View Article and Find Full Text PDFArticle Synopsis
- This study focused on developing a high-throughput screening method to identify new treatment targets for AP-4 deficiency, a rare childhood disease that causes problems with protein transport in cells.
- Researchers screened a large library of 28,864 small molecules and found a promising lead compound that corrected the mislocalization of the autophagy protein ATG9A in various disease models, including patient-derived cells.
- The study used advanced techniques to investigate how the lead compound affects molecular targets and cellular mechanisms, ultimately providing crucial insights for future drug development aimed at treating AP-4 deficiency.
Subnational entities are recognizing the need to systematically examine options for reducing their carbon footprints. However, few robust and comprehensive analyses are available that lay out how US states and regions can most effectively contribute. This paper describes an approach developed for Georgia-a state in the southeastern United States called "Drawdown Georgia", our research involves (1) understanding Georgia's baseline carbon footprint and trends, (2) identifying the universe of Georgia-specific carbon-reduction solutions that could be impactful by 2030, (3) estimating the greenhouse gas reduction potential of these high-impact 2030 solutions for Georgia, and (4) estimating associated costs and benefits while also considering how the solutions might impact societal priorities, such as economic development opportunities, public health, environmental benefits, and equity.
View Article and Find Full Text PDFSexual quality of life after the treatment of gynecologic cancer: what women want.
Support Care Cancer
December 2019
Purpose: While the incidence of sexual dysfunction after treatment for gynecologic malignancies is well documented, few studies describe how patients want healthcare providers to address these concerns. The objective of this study was to evaluate changes in sexual function and describe patient preferences regarding healthcare provider roles in addressing and treating sexual dysfunction in gynecologic cancer survivors.
Methods: Patients undergoing gynecologic cancer treatment from 2013 to 2014 at a single University-based Gynecologic Cancer clinic were surveyed using a modified Changes in Sexual Function Questionnaire (CSFQ), along with questions relating to healthcare provider interactions and preferences.