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Role of FUS in post synaptic neuromuscular junction differentiation
Published on Jul 21, 20171082 Views
During ALS disease progression, the neuromuscular junction (NMJ), that is the specialized synapse between the motor neuron and the muscle fiber, is the first structure to be affected. Indeed, the
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Chapter list
Role of Fus in post synaptic differentiation of neuromuscular junction : involvement in Amyotrophic Lateral Sclerosis00:00
Fus mutations cluster in PY-NLS 00:13
Fus ΔNLS model 00:50
Complete Fus mislocalization leads to MN degeneration01:36
Partial Fus mislocalization leads to MN degeneration and motor deficit 02:17
Fus ΔNLS rescue in motoneurons02:46
Fus is restored in the nucleus of MN and rescues MN degeneration in new born mice03:05
Fus is restored in the nucleus of MN and rescues MN loss but not motor function in adult mice03:28
Summary 04:01
Is cytoplasmic FUS mislocalization pathogenic in muscle?04:31
Transcriptomic analysis reveals Mitochondrial dysfunction in muscle of Fus ∆NLS and KO mice - 104:36
Transcriptomic analysis reveals Mitochondrial dysfunction in muscle of Fus ∆NLS and KO mice - 205:11
Fus is required for the normal morphology of the neuromuscular junction05:29
Fus is necessary for NMJ genes06:20
Fus is critical for transcription of NMJ07:03
What is the effect of mutant Fus on NMJ genes expression?07:49
Fus WT but not R495X is sufficient to increase NMJ genes expression in muscle cells08:15
Does Mutant Fus inhibit Fus WT effect on NMJ genes expression?08:31
Mutant Fus has a dominant negative effect on Fus WT that prevents increase of NMJ genes expression08:47
What could be the molecular link between NMJ formation and Mitochondrial function?09:08
PGC1α a commun factor involved in NMJ and Mitochondrial functions09:26
Fus impacts PGC1α expression, a key player in mitochondrial metabolism and NMJ formation09:52
Conclusion 10:26
Acknowledgements11:01