Publications by authors named "Michelle Briffa"
Article Synopsis
- Loss-of-function mutations in the Kv1.1 gene lead to episodic ataxia type 1 (EA1), causing symptoms like cerebellar dysfunction, ataxic attacks, muscle cramps, and epilepsy.
- Current treatments lack drugs that can counteract functional defects in Kv1.1 channels, making precision medicine for EA1 unfeasible.
- The study found that niflumic acid (NFA), an existing analgesic, enhances Kv1.1 channel activity and mitigates EA1 symptoms, showing promise as a therapeutic agent and a model for drug discovery.
A signature feature of age-related neurodegenerative proteinopathies is the misfolding and aggregation of proteins, typically amyloid-β (Aβ) in Alzheimer's disease (AD) and α-synuclein (α-syn) in Parkinson's disease (PD), into soluble oligomeric structures that are highly neurotoxic. Cellular and animal models that faithfully replicate the hallmark features of these disorders are being increasing exploited to identify disease-modifying compounds. Natural compounds have been identified as a useful source of bioactive molecules with promising neuroprotective capabilities.
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