João Alves-Cruzeiro
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View article: Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47 Open
View article: Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization
Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization Open
Mutations in any one of the four subunits (ɛ4, β4, μ4 and σ4) comprising the adaptor protein Complex 4 results in a complex form of hereditary spastic paraplegia, often termed adaptor protein Complex 4 deficiency syndrome. Deficits in adap…
View article: SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction Open
Hereditary spastic paraplegia type 15 (HSP15) is a neurodegenerative condition caused by the inability to produce SPG15 protein, which leads to lysosomal swelling. However, the link between lysosomal aberrations and neuronal death is poorl…
View article: Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy
Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy Open
Spinocerebellar ataxia type 2 (SCA2) is an incurable and genetic neurodegenerative disorder. The disease is characterized by progressive degeneration of several brain regions, resulting in severe motor and non-motor clinical manifestations…
View article: The hybrid AAVP tool gets an upgrade
The hybrid AAVP tool gets an upgrade Open
Gene therapy is the use of nucleic acids as therapeutic agents, with the purpose of restoring the expression of a missing/nonfunctional gene, silencing the expression of a mutant allele that has become toxic, or expressing cytotoxic genes …
View article: Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review
Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review Open
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant ataxia caused by an expansion of CAG repeats in the exon 1 of the gene ATXN2, conferring a gain of toxic function that triggers the appearance of the disease phenotype. SCA2 is …