Publications by authors named "H L Paulson"
PEG10 is a retroelement-derived Mart-family gene that is necessary for placentation and has been implicated in neurological disease. PEG10 resembles both retrotransposon and retroviral proteins and forms virus-like particles (VLPs) that can be purified using iodixanol ultracentrifugation. It is hypothesized that formation of VLPs is crucial to the biological roles of PEG10 in reproduction and neurological health.
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- A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
- The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
- While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
Study Objectives: To evaluate sex-specific associations between known or suspected obstructive sleep apnea (OSA) and dementia risk over 10 years among older women and men.
Methods: This study included 18 815 women and men age 50+ years (dementia-free at baseline) who participated in the Health and Retirement Study (HRS), a nationally representative cohort of US adults. Presence of OSA was defined by self-reported diagnosis or key HRS items that correspond to elements of a validated OSA screening tool (STOP-Bang).
Article Synopsis
- The human genome contains sequences from foreign elements, including retrovirus-like proteins, and the study explores how these proteins influence the behavior of UBQLN2, a factor involved in neurodegenerative diseases.
- Two specific retrovirus-like proteins, RTL8 and PEG10, work together to modulate the function of UBQLN2, enabling it to interact with PEG10 and play a role in stress granules during stress conditions.
- The research highlights how PEG10 affects the assembly and disassembly of stress granules and the presence of virus-like particles within them, revealing a novel connection between cellular protein management and retroviral elements.
Objectives: Spinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late-onset hereditary cerebellar ataxia. Here we present the first report of this disease in the US population, characterizing its clinical manifestations, disease progression, pathological abnormalities, and response to 4-aminopyridine in a cohort of 102 patients bearing GAA repeat expansions.
Methods: We compiled a series of patients with SCA27B, recruited from 5 academic centers across the United States.