A5054567361- Amyotrophic Lateral Sclerosis Research
- Ubiquitin and proteasome pathways
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Autophagy in Disease and Therapy
- Genetics and Neurodevelopmental Disorders
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
Northwestern University
2013-2020
Northwestern University
2013
Objective: Pathological protein inclusions containing OPTN are a common feature in neurodegenerative diseases, including ALS. primarily localizes to autophagosomes. Our data suggest that autophagic dysfunction is the key molecular event OPTN-linked ALS. Background: mutations cause ALS both autosomal recessive and dominant fashion, an uncommon phenomenon genetic diseases. A convergent mechanism explain this lacking. The OPTNE478G mutation provides clue mechanistic insight pathogenesis ALS,...
OBJECTIVE: To further explore the pathogenic mechanism of UBQLN2-mediated ALS and ALS-FTD, effect mutant UBQLN2 on autophagy. BACKGROUND: Mutations in cause ALS-FTD. Pathological inclusions containing are a common pathological feature sits at crossroads protein degradation through ubiquitin-proteasome system (UPS), bulk lysosomal via Alterations autophagy have been proposed to contribute pathogenesis several neurodegenerative diseases including ALS. However, precise behind malfunction is...
OBJECTIVE: We identified new ubiquilin2 mutations in PD patients. UbG76V-GFP and LC3-GFP reporters were used to test the impairment of protein degeneration pathways two novel PD-related mutations.
SUMMARY The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a hexanucleotide repeat expansion in C9orf72 (C9-HRE). While RNA dipeptide repeats produced by the C9-HRE disrupt nucleocytoplasmic transport, proteins that become redistributed remain unknown. Here, we utilized subcellular fractionation coupled with tandem mass spectrometry identified 126 proteins, enriched for protein translation metabolism pathways, which collectively drive...