A5004700517- Amyotrophic Lateral Sclerosis Research
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Coenzyme Q10 studies and effects
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
University of Cambridge
2021
SARM1, a protein with critical NADase activity, is central executioner in conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles patients amyotrophic lateral sclerosis (ALS) other motor nerve disorders that alter the auto-inhibitory ARM domain and constitutively hyperactivate activity. The constitutive activity these variants similar to lacking entire greatly exceeds wild-type even presence nicotinamide mononucleotide...
ABSTRACT SARM1, a protein with critical NADase activity, is central executioner in conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles patients amyotrophic lateral sclerosis (ALS) other motor nerve disorders that alter the auto-inhibitory ARM domain and constitutively hyperactivate activity. The constitutive activity these variants similar to lacking entire greatly exceeds wild-type even presence nicotinamide...