Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.
Adaptor Proteins, Signal Transducing
/ metabolism
Animals
Autophagy
Cells, Cultured
Disease Models, Animal
Lysosomes
/ enzymology
Mice
Mice, Inbred C57BL
Mice, Knockout
Mutation
Neuronal Ceroid-Lipofuscinoses
/ genetics
Thiolester Hydrolases
/ genetics
rab GTP-Binding Proteins
/ metabolism
rab7 GTP-Binding Proteins
S-palmitoylation
infantile neuronal ceroid lipofuscinosis
lysosomal storage disease
neurodegeneration
palmitoyl-protein thioesterases-1
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
15
11
2019
revised:
12
03
2020
accepted:
08
04
2020
pubmed:
13
4
2020
medline:
6
10
2021
entrez:
13
4
2020
Statut:
ppublish
Résumé
Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative lysosomal storage disease (LSD) caused by inactivating mutations in the CLN1 gene. CLN1 encodes palmitoyl-protein thioesterase-1 (PPT1), a lysosomal enzyme that catalyzes the deacylation of S-palmitoylated proteins to facilitate their degradation and clearance by lysosomal hydrolases. Despite the discovery more than two decades ago that CLN1 mutations causing PPT1-deficiency underlies INCL, the precise molecular mechanism(s) of pathogenesis has remained elusive. Here, we report that autophagy is dysregulated in Cln1
Identifiants
pubmed: 32279353
doi: 10.1002/jimd.12242
pmc: PMC8261861
mid: NIHMS1718824
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
RILP protein, human
0
rab7 GTP-Binding Proteins
0
rab7 GTP-binding proteins, human
0
rab7 GTP-binding proteins, mouse
0
Thiolester Hydrolases
EC 3.1.2.-
palmitoyl-protein thioesterase
EC 3.1.2.22
rab GTP-Binding Proteins
EC 3.6.5.2
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1082-1101Subventions
Organisme : Intramural NIH HHS
ID : Z99 HD999999
Pays : United States
Informations de copyright
Published 2020. This article is a U.S. Government work and is in the public domain in the USA.
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