Difficulties in treating CLN2 through enzyme replacement therapy
نویسندگان
چکیده
Background: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurometabolic disease whose treatment consists of enzyme replacement therapy (ERT) performed through syringe pump connected to catheter surgically implanted in the cerebral ventricle. The brought about change natural history these patients. However, there are several barriers implementation this therapy.
منابع مشابه
Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease)
Using a canine model of classical late-infantile neuronal ceroid lipofuscinosis (CLN2 disease), a study was conducted to evaluate the potential pharmacological activity of recombinant human tripeptidyl peptidase-1 (rhTPP1) enzyme replacement therapy administered directly to the cerebrospinal fluid (CSF). CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, w...
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Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal recessive childhood disease caused by mutations in the CLN2 gene, which encodes the lysosomal enzyme tripeptidyl peptidase I. As a step towards understanding the protein and developing therapeutics for the disease, we have produced and characterized recombinant human CLN2 (ceroid lipofuscinosis, neuronal 2) protein from Chinese-ha...
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ژورنال
عنوان ژورنال: Arquivos De Neuro-psiquiatria
سال: 2023
ISSN: ['1678-4227', '0004-282X']
DOI: https://doi.org/10.1055/s-0043-1774446