Outcomes of progranulin gene therapy in the retina are dependent on time and route of delivery.
AAV
neuronal ceroid lipofuscinosis
progranulin
retina
Journal
Molecular therapy. Methods & clinical development
ISSN: 2329-0501
Titre abrégé: Mol Ther Methods Clin Dev
Pays: United States
ID NLM: 101624857
Informations de publication
Date de publication:
10 Sep 2021
10 Sep 2021
Historique:
received:
05
03
2021
accepted:
19
05
2021
entrez:
6
9
2021
pubmed:
7
9
2021
medline:
7
9
2021
Statut:
epublish
Résumé
Neuronal ceroid lipofuscinosis (NCL) is a family of neurodegenerative diseases caused by mutations to genes related to lysosomal function. One variant, CNL11, is caused by mutations to the gene encoding the protein progranulin, which regulates neuronal lysosomal function. Absence of progranulin causes cerebellar atrophy, seizures, dementia, and vision loss. As progranulin gene therapies targeting the brain are developed, it is advantageous to focus on the retina, as its characteristics are beneficial for gene therapy development: the retina is easily visible through direct imaging, can be assessed through quantitative methods
Identifiants
pubmed: 34485593
doi: 10.1016/j.omtm.2021.05.009
pii: S2329-0501(21)00093-0
pmc: PMC8390452
doi:
Types de publication
Journal Article
Langues
eng
Pagination
40-51Informations de copyright
© 2021 The Author(s).
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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