Associated Papers
Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.
Lilles S et al.
Pediatric Reports, 2026
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes.
Zhang X et al.
Molecular Vision, 2024
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus.
Eto K et al.
Molecular Genetics and Metabolism Reports, 2023
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.
Refeat MM et al.
Neurogenetics, 2023
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Ppt1-deficiency dysregulates lysosomal Ca++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease.
Mondal A et al.
Journal of Inherited Metabolic Disease, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement Therapy.
Santi M et al.
Molecular Pharmaceutics, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
Sheth J et al.
Bmc Neurology, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.
Sleat DE et al.
Gene, 2016
Neuroprotection and lifespan extension in Ppt1(-/-) mice by NtBuHA: therapeutic implications for INCL.
Sarkar C et al.
Nature Neuroscience, 2013
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.
Miller JN et al.
Journal of Child Neurology, 2013
The neuronal ceroid-lipofuscinoses.
Bennett MJ et al.
Developmental Disabilities Research Reviews, 2013
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Omega-3 and omega-6 fatty acids suppress ER- and oxidative stress in cultured neurons and neuronal progenitor cells from mice lacking PPT1.
Kim SJ et al.
Neuroscience Letters, 2010
Structural basis of neuronal ceroid lipofuscinosis 1.
Ohno K et al.
Brain & Development, 2010
Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease.
Dawson G et al.
Biochemical and Biophysical Research Communications, 2010
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
Lyly A et al.
Bmc Cell Biology, 2009
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
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
Moore SJ et al.
Clinical Genetics, 2008
Analysis of NCL Proteins from an Evolutionary Standpoint.
Muzaffar NE et al.
Current Genomics, 2008
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.
Getty AL et al.
Expert Opinion on Medical Diagnostics, 2007
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
Lyly A et al.
Bmc Cell Biology, 2007
Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.
Kälviäinen R et al.
European Journal of Neurology, 2007
Diagnosis of the neuronal ceroid lipofuscinoses: an update.
Williams RE et al.
Biochimica Et Biophysica Acta, 2006
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].
Bi HY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.
Kim SJ et al.
Human Molecular Genetics, 2006
Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing.
Ahtiainen L et al.
Experimental Cell Research, 2006
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
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE et al.
Neurogenetics, 2005
[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
Taschner PE et al.
Nederlands Tijdschrift Voor Geneeskunde, 2005
Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
Jalanko A et al.
Neurobiology of Disease, 2005
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Mole SE
Brain Pathology (zurich, Switzerland), 2004
The neuronal ceroid-lipofuscinoses.
Haltia M
Journal of Neuropathology and Experimental Neurology, 2003
The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function.
Lu JY et al.
Biochimica Et Biophysica Acta, 2002
Database for the mutations of the Finnish disease heritage.
Sipilä K et al.
Human Mutation, 2002
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs).
Holopainen JM et al.
European Journal of Biochemistry, 2001
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
Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland.
Kallinen J et al.
Prenatal Diagnosis, 2001
Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood.
Zhang Z et al.
Nature Medicine, 2001
New mutations in the neuronal ceroid lipofuscinosis genes.
Mole SE et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2001
Batten's disease: clues to neuronal protein catabolism in lysosomes.
Dawson G et al.
Journal of Neuroscience Research, 2000
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
Salonen T et al.
Human Mutation, 2000