A glial cell model deficient in the NAGLU enzyme via CRISPR/Cas9 editing system in the U-87MG cell line exhibited typical traits for MPS IIIB, including decreased enzyme activity and mitochondrial mass, as well as increased lysosomal mass, neutral lipids, total glycosaminoglycans, and total reactive oxygen species.
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder characterized by the accumulation of unesterified cholesterol and glycosphingolipids in the late endosomal/lysosomal system, resulting in region-specific neurodegeneration. While the mechanism through which defective NPC1 protein and thus altered chole...
Olivia C. Wagner, T. T. Nguyen, Roshan Javanshad et al.· Journal of the American Soci...· 0 citations
Alkaptonuria (AKU) is a rare inherited metabolic disorder of tyrosine catabolism caused by a deficient homogentisate 1,2-dioxygenase (HGD) enzyme. This results in the accumulation of homogentisic acid (HGA), driving a progressive multisystem pathology characterized by debilitating early-onset osteoarthritis due to conn...
Matthias Rombaut, Gigly G. Del'haye, Sien Lequeue et al.· bioRxiv· 0 citations
Progressive familial intrahepatic cholestasis type 3 (PFIC3), caused by MDR3 deficiency (MDR2 in mice), is a lethal pediatric liver disease characterized by early-onset persistent cholestasis, progressive fibrosis, cirrhosis, and eventual liver failure. MDR3 is a phosphatidylcholine transporter located in the canalicul...
Irene Blázquez-García, Laura Guerrero, M. D. S. Tai et al.· Cells· 0 citations
The p66Shc protein functions as a cellular stress sensor that facilitates the elimination of irreversibly damaged cells under physiological conditions. However, during chronic stress, this pathway becomes maladaptive, contributing to progressive tissue degeneration. The present study reviews the involvement of p66S...
Fatemeh Yarmohammadi, Sasan Shabani, G. Karimi· Human & Experimental Tox...· 0 citations
Zero-knowledge proofs can verify computing results without rerunning workloads or exposing sensitive data. Magnetar helps bring them into the mainstream with support for standard programming languages, major speed gains, and quantum-resistant security. The post Proof-based general-purpose computing with Magnetar appeared first on Microsoft Research.
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