A5061146693- Spinal Dysraphism and Malformations
- Parkinson's Disease Mechanisms and Treatments
- Skin and Cellular Biology Research
- Cerebrospinal fluid and hydrocephalus
- Alzheimer's disease research and treatments
- Diet and metabolism studies
- Advanced Neuroimaging Techniques and Applications
- Neuroscience of respiration and sleep
- Fetal and Pediatric Neurological Disorders
- Neurological Disease Mechanisms and Treatments
- Nerve injury and regeneration
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
Allen Institute for Brain Science
2024
Icahn School of Medicine at Mount Sinai
2024
All India Institute of Medical Sciences
2024
Research on pathogenic mechanisms underlying giant axonal neuropathy (GAN), a disease caused by deficiency of gigaxonin, has been hindered the lack appropriate animal models exhibiting substantial symptoms and large neurofilament (NF) swellings, hallmark human disease. It is well established that intermediate filament (IF) proteins are substrates for gigaxonin-mediated degradation. However, it remained unknown to what extent NF accumulations contribute GAN pathogenesis. Here, we report...
Giant axonal neuropathy (GAN) is a disease caused by deficiency of gigaxonin, mediator the degradation intermediate filament (IF) proteins. A lack gigaxonin alters turnover IF proteins, provoking accumulation and disorganization neurofilaments (NFs) in neurons, hallmark disease. However, effects on neuronal function remain unknown. Here, we report that cultured embryonic dorsal root ganglia (DRG) neurons derived from Gan−/− mice exhibit accumulations proteins defects fast transport...