Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.

Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.

The hereditary spastic paraplegias (HSPs) are genetic motor neuron ailments characterised by progressive degeneration of corticospinal tract axons. Mutations in SPAST, encoding the microtubule-severing ATPase spastin, are the most typical causes of HSP. The broad SPAST mutational spectrum signifies a haploinsufficiency pathogenic mechanism generally. Most missense mutations cluster within the ATPase area, the place they …

Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function. Read More ยป