Local family of boy with rare disease raises awareness, spreads hope
Feb. 28 is Rare Disease Day and Channel 9 is spotlighting a local family working to shed light on rare diseases all year long.
Nature8mon
ATM: the p53 booster
The ATM gene (mutated in the disease ataxia telangiectasia) activates the p53 tumor suppressor protein in response to DNA damage, explaining the higher incidence of cancer in AT patients.
Nature3y
New class of small molecules target DNA damage repair and Huntington’s disease
Optimization of Potent and Selective Ataxia Telangiectasia-Mutated Inhibitors Suitable for a Proof-of-Concept Study in Huntington’s Disease Models. Journal of Medicinal Chemistry, vol.