Associated Papers
Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL).
Thirumal Kumar D et al.
Advances in Protein Chemistry and Structural Biology, 2022
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
34445196 (PubMed )
Supplement: ijms-22-08490-s001.zip › Table_S4_revised__2.8.21.xlsx › Sheet1
Electrophysiological Profile Remodeling via Selective Suppression of Voltage-Gated Currents by CLN1/PPT1 Overexpression in Human Neuronal-Like Cells.
Demontis GC et al.
Frontiers in Cellular Neuroscience, 2020
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
Mathavarajah S et al.
Cells, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases.
Palmieri M et al.
Nature Communications, 2017
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.
Travaglini L et al.
Brain & Development, 2017
The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.
Pezzini F et al.
Frontiers in Molecular Neuroscience, 2017
Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.
Tikka S et al.
Neuromolecular Medicine, 2016
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM et al.
Orphanet Journal of Rare Diseases, 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
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Simonati A et al.
Pediatric Neurology, 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
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