Article
Mutant VAPB: Culprit or Innocent Bystander of Amyotrophic Lateral Sclerosis?
1 Jan 2021
Abstract excerpt
Nearly twenty years ago a mutation in the VAPB gene, resulting in a proline to serine substitution (p.P56S), was identified as the cause of a rare, slowly progressing, familial form of the motor neuron degenerative disease Amyotrophic Lateral Sclerosis (ALS). Since then, progress in unravelling the mechanistic basis of this mutation has proceeded in parallel with research on the VAP proteins and on their role in...
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