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| http://dx.doi.org/10.1080/15548627.2016.1170266 | DOI Listing |
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Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
Background: Glaucoma is characterized by progressive optic nerve degeneration that results in irreversible blindness, and it can be considered a neurodegenerative disorder of both the eye and the brain. Increasing evidence suggest that glaucoma shares some common neurodegenerative pathways with Frontotemporal Lobar Degeneration (FTLD), Amyotrophic Lateral Sclerosis (ALS), and Alzheimer's Disease (AD) among others. Interestingly, a recent study revealed the presence of abnormal TAR DNA-binding protein 43 (TDP-43) inclusions and aggregates in retinal ganglion cells and other retinal cell types in FTLD-TDP patients; however, the significance of this pathology and its impact on retinal function and optical nerve integrity is unknown.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Background: SNX19 is a key player in endolysosomal and autophagy pathways, which have been extensively reported in neuronal dysfunction and neurodegenerative diseases. Although genetic and cellular evidence suggests SNX19 contributes to neuropathology, the underlying mechanisms remain unknown. Here, we propose to study the mechanism in aging postmortem brain tissue at single cell level and model SNX19 in human induced pluripotent stem cell (hiPSCs) derived brain organoids.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Vanderbilt University Medical Center, Nashville, TN, USA.
Background: Genome-wide association studies suggest mutations in endolysosomal genes are linked to Alzheimer's disease (AD). Defective lysosomal function has been corroborated as a feature of AD by neuropathological and cell biology studies. PLD3 is a homolog of the phospholipase D family localized to lysosomes.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of Pennsylvania, Philadelphia, PA, USA.
Background: Alzheimer's disease (AD) is neurodegenerative disease brought on by a combination of changes in multiple pathways that conglomerate to promote disease progression. AD often occurs alongside comorbid diseases, most often immune or vascular in nature, which have been shown to further increase AD risk. We previously showed that known AD variants also associate with secondary diseases in these categories, including rheumatoid arthritis, ischemic myocardial infarction, and both Type 1 and Type 2 diabetes.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of Oxford, Oxford, United Kingdom.
Background: Alzheimer's (AD) and Parkinson's disease (PD) feature progressive neurodegeneration in a remarkably regionally selective manner. Post mortem studies have posited a role for cell autonomous mechanisms driving this, so we aimed to examine a live human induced pluripotent stem cell (iPSC) model to see whether it can replicate the phenomenon of selective neuronal vulnerability, so to better determine disease mechanisms and therapeutic targets.
Method: iPSC-derived neurons offer a rare opportunity to examine cell autonomous vulnerability in live human cells.
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