The relative sensitivities of human fibroblast cultures from patients with familial Alzheimer's disease (AD), patients with Down's syndrome (Trisomy 21, T-21), and normal control (D-21) subjects, to the antiviral effect of human interferon-alpha (Hu-IFN-alpha) were compared. In confirmation of previous studies, T-21 cell lines showed significantly enhanced sensitivities to IFN compared with D-21 cells from normal controls. Fibroblast cultures from 2 familial AD patients belonging to one family exhibited sensitivities which fell within the range of response of normal D-21 cells. In contrast, fibroblasts from two other related subjects, one with familial AD and his niece "at risk", were extremely insensitive to interferon.
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Tzu Chi Med J
August 2024
Department of Pediatrics, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei, Taiwan.
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Department of Pharmacology and Pharmaceutical Sciences, University of Southern California Mann School of Pharmacy and Pharmaceutical Sciences, 1985 Zonal Ave, Los Angeles, CA 90089-9121, USA.
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Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
α-Synucleinopathies constitute a spectrum of neurodegenerative disorders, including Parkinson's disease (PD), Lewy body dementia (LBD), Multiple System Atrophy (MSA), and Alzheimer's disease concurrent with LBD (AD-LBD). These disorders are unified by a pathological hallmark: aberrant misfolding and accumulation of α-synuclein (α-syn). This review delves into the pivotal role of α-syn, the key agent in α-synucleinopathy pathophysiology, and provides a survey of potential therapeutics that target cell-to-cell spread of pathologic α-syn.
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NHC Key Laboratory of Human Disease Comparative Medicine, Beijing Engineering Research Center for Experimental Animal Models of Human Critical Diseases, International Center for Technology and Innovation of Animal Model, Institute of Laboratory Animal Sciences, Chinese Academy of Medical Sciences (CAMS) & Comparative Medicine Center, Peking Union Medical College (PUMC), Beijing, 100021, China.
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View Article and Find Full Text PDFSci Rep
January 2025
Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).
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