Caspase 1 activity influences juvenile Batten disease (CLN3) pathogenesis.
CLN3
Caspase 1
juvenile Batten disease
Journal
Journal of neurochemistry
ISSN: 1471-4159
Titre abrégé: J Neurochem
Pays: England
ID NLM: 2985190R
Informations de publication
Date de publication:
03 2019
03 2019
Historique:
received:
18
04
2018
revised:
30
05
2018
accepted:
04
06
2018
pubmed:
7
6
2018
medline:
29
10
2019
entrez:
7
6
2018
Statut:
ppublish
Résumé
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is an autosomal recessive lysosomal storage disease caused by loss-of-function mutations in CLN3. Symptoms appear between 5 and 10 years of age, beginning with blindness and seizures, followed by progressive cognitive and motor decline, and premature death. Glial activation and impaired neuronal activity are early signs of pathology in the Cln3
Substances chimiques
Casp1 protein, mouse
EC 3.4.22.36
Caspase 1
EC 3.4.22.36
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
652-668Informations de copyright
© 2018 International Society for Neurochemistry.