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<em>SORL1</em> as a Putative Candidate Gene for a Novel Recessive Form of Complicated Hereditary Spastic Paraplegia: Insights from a Deep Functional Study

2025-08-12

Abstract excerpt

Genes regulating the endolysosome and autophagy pathway are the major aetiological contributors to hereditary spastic paraplegia (HSP). A pathogenetic link involving macroautophagy between HSP and Alzheimer disease (AD) has been well-established. SORLA, an endosomal trafficking protein, has a pivotal role in maintaining the homeostasis of glutamatergic neurons and white matter tract microarchitecture. So far, SORL...

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Literature Corpus work
bee07fb5-e552-5e97-a954-f5af410a4ef4
DOI
10.20944/preprints202508.0787.v1
Open publication

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<em>SORL1</em> as a Putative Candidate Gene for a Novel Recessive Form of Complicated Hereditary Spastic Paraplegia: Insights from a Deep Functional StudyDOI 10.20944/preprints202508.0787.v1
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