Mutation-specific cellular mechanisms in Drosophila models of ATL1-associated hereditary spastic paraplegia

Mutations in ATL1 are a frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), yet patients display a wide range of clinical severity, from slowly progressive “pure” to severe, early-onset “complex” forms. The cellular mechanisms underlying this heterogeneity remain poorly defined...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Emma Cadoria, Anood Sohail, Breandan N. Kennedy, Craig Blackstone, Niamh C. O'Sullivan
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2026-09-01
Σειρά:	Neurobiology of Disease
Θέματα:	Hereditary spastic paraplegia ATL1 Drosophila melanogaster Endoplasmic reticulum dynamics Lipid homeostasis Genotype–phenotype correlation
Διαθέσιμο Online:	http://www.sciencedirect.com/science/article/pii/S0969996126002688
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