Publications by authors named "Jeremi J Turkia"
Article Synopsis
- Mutations in the mitochondrial DNA subunit MT-ATP6 can lead to various neurological conditions, including peripheral neuropathy and ataxia, due to disruptions in ATP synthase function and mitochondrial structure.
- The specific mutation m.9154C>T was analyzed using patient-derived stem cells, revealing that its impact on cellular behavior varies based on the level of mutation present—affecting neurogenesis and metabolism of motor neurons.
- Additionally, the study found that Notch signaling was hyperactivated in motor neuron differentiation related to the mutation, suggesting changes in mitochondrial morphology might play a key role in the development of peripheral motor neuropathies.
