Development and characterization of glial cell models of Autosomal Recessive Spastic Ataxia of Charle-voix-Saguenay

Ferreira, Fernanda Ivanira Henriques Murtinheira

http://hdl.handle.net/10362/184326

Utilize este identificador para referenciar este registo.

Nome:	Descrição:	Tamanho:	Formato:
PhD_Molecular_Biosciences_Speciality_Biochemistry_Fernanda_Murtinheira_2024 .pdf		14.24 MB	Adobe PDF	Ver/Abrir

Contacte-nos

Autores

Ferreira, Fernanda Ivanira Henriques Murtinheira

Orientador(es)

Herrera, Federico

Resumo(s)

"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is the third most prevalent recessive ataxia, characterized by childhood onset of progressive cerebellar ataxia, spasticity, motor sensory neuropathy, axonal demyelination, and Purkinje cell loss. ARSACS is caused by loss-of- function mutations in the SACS gene, which encodes sacsin, a 520 kDa multimodular protein with a partially understood function. Several lines of evidence suggest that sacsin is involved in chaperone activities, promotes the proper polymerization of the neuronal intermediate filaments (i.e., neurofilaments and vimentin), is linked to mitochondrial dynamics, and bioenergetics and regulates organelle positioning by regulating cytoskeletal dynamics.(...)"