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
Dysfunction of GABAergic interneurons underlies altered neural network oscillations associated with epileptiform activity in PPT1-deficient mice.
Tong J et al.
Translational Psychiatry, 2026
Gastrointestinal symptoms in neuronal ceroid lipofuscinoses (NCLs): an observational study on prevalence, timing of progression, and impact on quality of life.
Della Vecchia S et al.
Neurogenetics, 2025
Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets.
Ziółkowska EA et al.
Nature Reviews. Neurology, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Cracking rare disorders: a new minimally invasive RNA-seq protocol.
De Cock L et al.
Npj Genomic Medicine, 2025
Niemann Pick C1 mistargeting disrupts lysosomal cholesterol homeostasis contributing to neurodegeneration in a Batten disease model.
Appu AP et al.
Science Advances, 2025
Activation of D2-like dopamine receptors improves the neuronal network and cognitive function of PPT1KI mice.
Zhao JQ et al.
Acta Pharmacologica Sinica, 2025
Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models.
Ziółkowska EA et al.
Science Translational Medicine, 2025
GABAAR-PPT1 palmitoylation homeostasis controls synaptic transmission and circuitry oscillation.
Tong J et al.
Translational Psychiatry, 2024
Diagnostic findings and yield of investigations for children with developmental regression.
Furley K et al.
American Journal of Medical Genetics. Part A, 2024
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.
Nair LS et al.
Pediatric Neurology, 2024
Disruption of lysosomal nutrient sensing scaffold contributes to pathogenesis of a fatal neurodegenerative lysosomal storage disease.
Bagh MB et al.
The Journal of Biological Chemistry, 2024
Microbiome and Inherited Retinal Degenerations.
Douglas VP et al.
The American Journal of Pathology, 2023
Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders.
Leppert HG et al.
Biorxiv : the Preprint Server for Biology, 2023
Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.
Placci M et al.
Advanced Drug Delivery Reviews, 2023
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme.
Hahn A et al.
Molecular Genetics and Metabolism Reports, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep.
Nelvagal HR et al.
The Journal of Clinical Investigation, 2022
Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.
Zhang X et al.
International Journal of Molecular Sciences, 2022
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected Individuals.
Brudvig JJ et al.
Biomarker Insights, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
Pharmacological approaches to tackle NCLs.
Kauss V et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease).
Eaton SL et al.
Scientific Reports, 2019
Considerations in multi-gene panel testing in pediatric ophthalmology.
Turriff AE et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
Therapeutic landscape for Batten disease: current treatments and future prospects.
Johnson TB et al.
Nature Reviews. Neurology, 2019
Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration.
Murgiano L et al.
G3 (bethesda, Md.), 2019
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
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
Sleat DE et al.
Journal of Proteome Research, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.
Geraets RD et al.
Plos One, 2017
Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.
Geraets RD et al.
Orphanet Journal of Rare Diseases, 2016
Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).
Nagel-Wolfrum K et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2016
Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCL.
Thada V et al.
Journal of Cellular and Molecular Medicine, 2016
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Kohan R et al.
Biochimica Et Biophysica Acta, 2015
Evaluation of disease progression in INCL by MR spectroscopy.
Baker EH et al.
Annals of Clinical and Translational Neurology, 2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.
Miller JN et al.
Human Molecular Genetics, 2015
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C et al.
Journal of Neurology, 2015
Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.
Bouchelion A et al.
Annals of Clinical and Translational Neurology, 2014