Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy
SK Custer, EJ Androphy - Molecular and cellular Neuroscience, 2014 - Elsevier
Abnormal autophagy has become a central thread linking neurodegenerative diseases,
particularly of the motor neuron. One such disease is spinal muscular atrophy (SMA), a
genetic neuromuscular disorder caused by mutations in the SMN1 gene resulting in low
levels of Survival Motor Neuron (SMN) protein. Despite knowing the causal protein, the
exact intracellular processes that are involved in the selective loss of motor neurons remain
unclear. Autophagy induction can be helpful or harmful depending on the situation, and we …
particularly of the motor neuron. One such disease is spinal muscular atrophy (SMA), a
genetic neuromuscular disorder caused by mutations in the SMN1 gene resulting in low
levels of Survival Motor Neuron (SMN) protein. Despite knowing the causal protein, the
exact intracellular processes that are involved in the selective loss of motor neurons remain
unclear. Autophagy induction can be helpful or harmful depending on the situation, and we …