Spinal muscular atrophy
- Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila
Summary: Using animal models of spinal muscular atrophy, we describe a novel disease mechanism caused by temperature-sensitive protein unfolding/instability of the Tudor domain of SMN.
- Therapeutic strategies for spinal muscular atrophy: SMN and beyond
Summary: Translational research for spinal muscular atrophy (SMA) should address the development of non-CNS and survival motor neuron (SMN)-independent therapeutic approaches to complement and enhance the benefits of CNS-directed and SMN-dependent therapies.
- Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy
Summary: This study provides the first evidence in human models of spinal muscular atrophy of impaired mitochondrial dynamics, which serve as potential therapeutic targets for this devastating disease.