Associated Papers
Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip.
Corti S et al.
Cell Reports. Medicine, 2025
Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease.
Sondhi D et al.
Human Gene Therapy, 2024
Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease.
Ma L et al.
Stem Cell Research, 2021
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Sima N et al.
Orphanet Journal of Rare Diseases, 2018
mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases.
Palmieri M et al.
Nature Communications, 2017
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
Di Giacopo R et al.
Journal of the Neurological Sciences, 2015
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Sun Y et al.
Human Mutation, 2013
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
Walus M et al.
Human Mutation, 2010
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
Steinfeld R et al.
American Journal of Medical Genetics, 2002
Select a paper to view details