Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement.
Adolescent
Adult
CRISPR-Cas Systems
/ genetics
Cathepsin B
/ pharmacology
Cell Line
Cerebellar Cortex
/ growth & development
Child
Humans
Induced Pluripotent Stem Cells
/ cytology
Lysosomal Membrane Proteins
/ antagonists & inhibitors
Lysosomes
/ genetics
Mutation
/ genetics
Neurodegenerative Diseases
/ complications
Neuronal Ceroid-Lipofuscinoses
/ complications
Neurons
/ drug effects
Phenotype
Young Adult
Batten disease
CLN5
CRISPR
cathepsin B
iPSC-derived human neurons
lysosome acidity
lysosome enzyme activity
lysosome function
lysosome movement
Journal
Biomolecules
ISSN: 2218-273X
Titre abrégé: Biomolecules
Pays: Switzerland
ID NLM: 101596414
Informations de publication
Date de publication:
27 09 2021
27 09 2021
Historique:
received:
01
09
2021
revised:
16
09
2021
accepted:
22
09
2021
entrez:
23
10
2021
pubmed:
24
10
2021
medline:
20
1
2022
Statut:
epublish
Résumé
Batten disease is a devastating, childhood, rare neurodegenerative disease characterised by the rapid deterioration of cognition and movement, leading to death within ten to thirty years of age. One of the thirteen Batten disease forms,
Identifiants
pubmed: 34680045
pii: biom11101412
doi: 10.3390/biom11101412
pmc: PMC8533494
pii:
doi:
Substances chimiques
CLN5 protein, human
0
Lysosomal Membrane Proteins
0
Cathepsin B
EC 3.4.22.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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