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Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Background: Lewy body dementia (LBD) is the second most prevalent dementia in the United States after Alzheimer's disease (AD). Recent studies have implicated rare mutations in two lipid transport genes, ABCA1 and ATP8B4, in Alzheimer's disease. Substantial co-pathology and shared risk factors indicate an intersectional genetic architecture between LBD and AD; therefore, we investigated the association of rare mutations in ABCA1 and ATP8B4 with LBD.
View Article and Find Full Text PDF[Two cases of occupational severe toxic encephalopathy caused by nitrogen gas].
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi
December 2024
Department of Occupational and Radiological Diseases, Changzhou Center for Disease Prevention and Control, Changzhou 213022, China.
This paper reports two cases of occupational severe toxic encephalopathy caused by inhaling excessive nitrogen in an accident. The main reasons are failure to performing field-work standards of limited space operation and emergency rescue. Hypoxia asphyxia is the main pathogenic link of nitrogen toxicity, which can cause brain edema.
View Article and Find Full Text PDFTargeted plasma metabolomics reveals potential biomarkers of the elderly with mild cognitive impairment in Qingdao rural area.
Front Aging Neurosci
December 2024
Department of Epidemiology and Health Statistics, School of Public Health, Qingdao University, Qingdao, Shandong, China.
Introduction: Previous research has suggested a link between the onset of Alzheimer's disease (AD) and metabolic disorder; however, the findings have been inconsistent. To date, the majority of metabolomics studies have focused on AD, resulting in a relative paucity of research on early-stage conditions such as mild cognitive impairment (MCI) underexplored. In this study, we employed a comprehensive platform for the early screening of individuals with MCI using high-throughput targeted metabolomics.
View Article and Find Full Text PDF[Research progresses in gene therapy for hepatolenticular degeneration].
Zhonghua Gan Zang Bing Za Zhi
January 2025
Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei230022, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei230032, China Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei230032, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei230032, China Anhui Province Key Laboratory of Reproductive Disorders and Obstetrics and Gynecology Diseases, Hefei230032, China Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei230032, China Anhui Provincial Institute of Translational Medicine, Hefei230032, China.
Hepatolenticular degeneration, also known as Wilson's disease, is a type of autosomal recessive genetic disorder of copper metabolism. The causative gene, ATP7B, is located on the long arm of chromosome 13 and encodes a P-type ATPase that is involved in copper transport. Pathogenic mutations in the ATP7B gene sequence lead to the diminished or lost function of the ATP7B protein, resulting in pathological copper deposition in organs such as the liver, brain, kidneys, and cornea.
View Article and Find Full Text PDFEngineered tRNAs efficiently suppress CDKL5 premature termination codons.
Sci Rep
December 2024
Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate (Milan), 20054, Italy.
The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, motor and visual dysfunctions. The causative gene is CDKL5, which codes for a kinase required for brain development. There is no cure for CDD patients; treatments are symptomatic and focus mainly on seizure control.
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