Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
Jilani A et al.
Jimd Reports, 2019
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
Sheth J et al.
Bmc Neurology, 2018
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.
Sarkar C et al.
Molecular Genetics and Metabolism, 2011
Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease.
Dawson G et al.
Biochemical and Biophysical Research Communications, 2010
Abstracts of the XLVII International Symposium of the ISCEV (International Society for Clinical Electrophysiology of Vision). Abano Terme-Padova, Italy. July 6-10, 2009.
Unknown Author
Documenta Ophthalmologica. Advances in Ophthalmology, 2009
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.
Bonsignore M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2006
Founder mutations among the Dutch.
Zeegers MP et al.
European Journal of Human Genetics : Ejhg, 2004
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.
Mazzei R et al.
Journal of Neurology, 2002
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
Das AK et al.
Human Molecular Genetics, 2001
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
Das AK et al.
The Journal of Clinical Investigation, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
Mitchison HM et al.
Human Molecular Genetics, 1998
Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease.
Huey J et al.
Ophthalmology Science, 0