A5049554826- Lysosomal Storage Disorders Research
- Neonatal and fetal brain pathology
- Neuroinflammation and Neurodegeneration Mechanisms
- GDF15 and Related Biomarkers
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- Complement system in diseases
- Muscle Physiology and Disorders
- Genetic Syndromes and Imprinting
- Studies on Chitinases and Chitosanases
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- HIV Research and Treatment
- Galectins and Cancer Biology
- Metabolism and Genetic Disorders
- Cytomegalovirus and herpesvirus research
- Cerebral Palsy and Movement Disorders
- Amino Acid Enzymes and Metabolism
- Electromagnetic Scattering and Analysis
- Virus-based gene therapy research
- Nuclear Receptors and Signaling
- Biomedical Research and Pathophysiology
- Carbohydrate Chemistry and Synthesis
- Macrophage Migration Inhibitory Factor
- Nutrition and Health in Aging
BioMarin (United States)
2024-2025
NGM Biopharmaceuticals (United States)
2017
Stanford University
2011-2014
Howard Hughes Medical Institute
2012-2013
Duke University
2007
Angelman syndrome (AS), an early-onset neurodevelopmental disorder characterized by abnormal gait, intellectual disabilities, and seizures, occurs when the maternal allele of UBE3A gene is disrupted, since paternal silenced in neurons antisense (UBE3A-AS) transcript. Given importance early treatment, we hypothesized that prenatal delivery oligonucleotide (ASO) would downregulate murine Ube3a-AS, resulting increased protein functional rescue. Using a mouse model with Ube3a-YFP reports...
Niemann–Pick type C disease is a fatal lysosomal storage disorder caused by loss of NPC1 function. The severely affects multiple body systems, particularly the nervous system. To test whether rescue activity in neurons, astrocytes, or other cell types can correct neurological defects, Tet-inducible Npc1-YFP transgene was introduced into Npc1 −/− mice for type-specific loss. NPC1-YFP produced neurons prevented neuron degeneration, slowed reactive glial activity, and ameliorated disease....
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...
Chronic systemic inflammation is thought to be a major contributor metabolic and neurodegenerative diseases. Since inflammatory components are shared among different disorders, targeting an attractive option for mitigating disease. To test the significance of in lipid storage disorder (LSD) Niemann-Pick C (NPC), we deleted macrophage gene Mip1a/Ccl3 from NPC diseased mice. Deletion Ccl3 had been reported delay neuronal loss Sandhoff LSD mice by inhibiting infiltration. For mice, contrast,...
Abstract Background The immune system has been implicated in neurodegeneration during development and disease. In various studies, the absence of complement (that is, C1q deficiency) impeded elimination apoptotic neurons, allowing survival. genetic lysosomal storage disease Niemann-Pick C (NPC), caused by loss NPC1 function, expression components, especially, is elevated degenerating brain regions Npc1 -/- mice. Here we test whether mediating NPC Findings normal mature mice, mRNA was found...
Classic galactosemia (CG) arises from loss-of-function mutations in the
In situ hybridization and immunostaining are common techniques for localizing gene expression, the mRNA protein respectively, within tissues. Both can be applied to tissue sections achieve similar goals, but in some cases, it is necessary use them together. For example, complement C1q a secreted complex that target innate immune response during inflammation. Complement has been found elevated early before severe neurodegeneration several disease models. Thus, may serve as an important marker...
Mice are extremely powerful mammalian genetic model organisms for basic and medical research, but managing a colony of transgenic mice is time consuming expensive, many times requiring the help dedicated technicians. Slow laborious genotyping procedures add to hassle. Outsourcing costly may not be as fast desired, especially when setting up sensitive experiments. Ultrafast protocols often require real-time PCR instruments commercial reagents that economical or practical. This protocol,...