A5101579320- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Neutrino Physics Research
- Astrophysics and Cosmic Phenomena
- Peptidase Inhibition and Analysis
- Genomics and Rare Diseases
- Trypanosoma species research and implications
- Animal Nutrition and Physiology
- Bird parasitology and diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Vitamin D Research Studies
- Comparative Animal Anatomy Studies
- Biochemical and Molecular Research
- Particle Detector Development and Performance
- Avian ecology and behavior
- Glycogen Storage Diseases and Myoclonus
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Ubiquitin and proteasome pathways
- Calcium signaling and nucleotide metabolism
- Particle physics theoretical and experimental studies
- Pneumocystis jirovecii pneumonia detection and treatment
- Studies on Chitinases and Chitosanases
- Radiation Detection and Scintillator Technologies
- Connective tissue disorders research
BioMarin (United States)
2012-2025
University of Colorado System
2024
Cedars-Sinai Medical Center
2015
Henry Ford Health System
1988
Wayne State University
1982
Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating autosomal dominant mutation in fibroblast growth factor receptor-3 gene. Genetic overexpression C-type natriuretic peptide (CNP), a positive regulator endochondral bone growth, prevents dwarfism mouse models ACH. However, administration exogenous CNP compromised its rapid clearance vivo through receptor-mediated and proteolytic pathways. Using vitro approaches, we developed modified variants CNP,...
Significance Mucopolysaccharidosis type IIIB (MPS IIIB) is a devastating and currently untreatable disease affecting mainly the brain. The cause lack of lysosomal enzyme, α– N -acetylglucosaminidase (NAGLU), storage heparan sulfate. Using mouse model MPS IIIB, we administered modified NAGLU by injection into left ventricle brain, bypassing blood–brain barrier. modification consisted fragment IGFII, which allows receptor-mediated uptake delivery to lysosomes. enzyme was taken up avidly cells...
The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by β-hexosaminidase A (HexA) deficiency. In the mouse model, rescue potential was severely reduced when HexA introduced after onset. Here, we assess effect of recombinant HexD3, a newly engineered mimetic optimized for treatment disease. Enzyme replacement therapy administered repeat intracerebroventricular injections in model mice with dosing beginning before signs...
Abstract Prioritizing genes for translation to therapeutics common diseases has been challenging. Here, we propose an approach identify drug targets with high probability of success by focusing on both gain function (GoF) and loss (LoF) mutations associated opposing effects phenotype (Bidirectional Effect Selected Targets, BEST). We find 98 BEST a variety indications. Drugs targeting those are 3.8-fold more likely be approved than non-BEST genes. focus five ( IGF1R, NPPC, NPR2, FGFR3 , SHOX...
Abstract While GWAS of common diseases has delivered thousands novel genetic findings, prioritizing genes for translation to therapeutics been challenging. Here, we propose an approach resolve that issue by identifying have both gain function (GoF) and loss (LoF) mutations associated with opposing effects on phenotype (Bidirectional Effect Selected Targets, BEST). Bidirectionality is a desirable feature the best targets because it implies causal role in one direction modulating target...
CHIPS (CHerenkov detectors In mine PitS) was a prototype large-scale water Cherenkov detector located in northern Minnesota. The main aim of the R&D project to demonstrate that construction costs neutrino oscillation could be reduced by at least an order magnitude compared other equivalent experiments. This article presents design features along with details implementation and deployment prototype. While issues during after prevented data taking, number key concepts designs were successfully...
Chronic intracarotid cannulation of the common carotid artery was performed in pigeon. The catheter system polyethylene tubing consisted an indwelling component and injection component. exteriorized at occiput so bird could not reach with its beak. Following surgery, pigeons were housed individually received food water ad libitum no special care necessary. flushed daily heparin 0·9% NaCl solution to maintain patency. 30 continuously or intermittently infused bioactive peptides for up 60 days...
Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder caused by N-sulfoglucosamine sulfohydrolase (SGSH) deficiency. SGSH removes the sulfate from residues on nonreducing end of heparan (HS-NRE) within lysosomes. Enzyme deficiency results in accumulation partially degraded HS lysosomes throughout body, leading to progressive severe neurological disease. replacement therapy has been proposed, but further evaluation treatment strategy needed. Here, we used Chinese hamster...