An Early Onset Progressive Motor Neuron Disorder inScyl1-Deficient Mice Is Associated with Mislocalization of TDP-43

Abstract excerpt

The molecular and cellular bases of motor neuron diseases (MNDs) are still poorly understood. The diseases are mostly sporadic, with ~10% of cases being familial. In most cases of familial motor neuronopathy, the disease is caused by either gain-of-adverse-effect mutations or partial loss-of-function mutations in ubiquitously expressed genes that serve essential cellular functions. Here we show that deletion of...

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