Study of SPG11’s splicing, in neuronal and non-neuronal cells, by long-read sequencing: implication on phenotype
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The SPG11 gene is one of the most frequently mutated genes in the autosomal recessive forms of hereditary spastic paraplegias (HSP) and also accounts for cases with amyotrophic lateral sclerosis (ALS5) and Charcot-Marie Tooth (CMT) neuropathy. The SPG11 gene encodes a ubiquitously expressed 7.8kb full-length transcript. This transcript codes for Spatacsin, a 2 443 amino acids protein with a suspected role in autophagy. Little is known about the regulation of the expression of this gene.