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Mobley, W.

Publications and source records attributed to Mobley, W..

2 recordsLinked to original sources

Alzheimer's disease linked Aβ42 exerts product feedback inhibition on γsecretase impairing downstream cell signaling

Amyloid {beta} (A{beta}) peptides accumulating in the brain are proposed to trigger Alzheimers disease (AD). However, molecular cascades underlying their toxicity are poorly defined. Here, we explored a novel hypothesis for A{beta}42 toxicity that arises from its proven affinity for {gamma}-secretases. We hypothesized that the reported increases in A{beta}42, particularly in the endolysosomal compartment, promote the establishment of a product feedback inhibitory mechanism on {gamma}-secretases, and thereby impair downstream signaling events. We show that human A{beta}42 peptides, but neither murine A{beta}42 nor human A{beta}17-42 (p3), inhibit {gamma}-secretases and trigger accumulation of unprocessed substrates in neurons, including C-terminal fragments (CTFs) of APP, p75 and pan-cadherin. Moreover, A{beta}42 treatment dysregulated cellular homeostasis, as shown by the induction of p75-dependent neuronal death in two distinct cellular systems. Our findings raise the possibility that pathological elevations in A{beta}42 contribute to cellular toxicity via the {gamma}-secretase inhibition, and provide a novel conceptual framework to address A{beta} toxicity in the context of {gamma}-secretase-dependent homeostatic signaling.

biochemistry↗

CryoET Reveals Organelle Phenotypes in Huntington Disease Patient iPSC-Derived and Mouse Primary Neurons

Huntingtons Disease (HD) is caused by an expanded CAG repeat in the huntingtin gene, yielding a Huntingtin protein with an expanded polyglutamine tract. Patient-derived induced pluripotent stem cells (iPSCs) can help understand disease; however, defining pathological biomarkers is challenging. Here, we used cryogenic electron tomography to visualize neurites in HD patient iPSC-derived neurons with varying CAG repeats, and primary cortical neurons from BACHD, deltaN17-BACHD, and wild-type mice. In HD models, we discovered mitochondria with enlarged granules and distorted cristae, and thin sheet aggregates in double membrane-bound organelles. We used artificial intelligence to quantify mitochondrial granules, and proteomics to show differential protein content in HD mitochondria. Knockdown of Protein Inhibitor of Activated STAT1 ameliorated aberrant phenotypes in iPSC-neurons and reduced phenotypes in BACHD neurons. We show that integrated ultrastructural and proteomic approaches may uncover early HD phenotypes to accelerate diagnostics and the development of targeted therapeutics for HD.

neuroscience↗