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Article

Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.

Journal of inherited metabolic disease - 1 Sept 2020

Sarkar Chinmoy, Sadhukhan Tamal, Bagh Maria B, Appu Abhilash P, Chandra Goutam, Mondal Avisek, Saha Arjun, Mukherjee Anil B

Abstract excerpt

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...

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Adaptor Proteins, Signal Transducing
Autophagy
Lysosomes
Mice, Knockout
Neuronal Ceroid-Lipofuscinoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

rab GTP-Binding Proteins

rab7 GTP-Binding Proteins

Thiolester Hydrolases

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Identifiers

PMID: 32279353
DOI: 10.1002/jimd.12242
PMCID: PMC8261861

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