Results 41 to 50 of about 2,889 (188)
Acta Neuropathologica Communications, 2018 The neuronal ceroid lipofuscinoses (NCLs) are the most common cause of childhood dementia and are invariably fatal. Early localized glial activation occurs in these disorders, and accurately predicts where neuronal loss is most pronounced.
Jenny Lange +6 more
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Neuroprotection and lifespan extension in Ppt1−/− mice by NtBuHA: therapeutic implications for INCL [PDF]
Nature Neuroscience, 2013 Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating childhood neurodegenerative lysosomal storage disease (LSD) that has no effective treatment. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 deficiency impairs the cleavage of thioester linkage in palmitoylated proteins (constituents of ...
Sarkar, Chinmoy +5 more
openaire +2 more sources
Direct depalmitoylation with PPT1 validates putative synaptic substrates.
, 2022 (A) (i) Schematic of PPT1-mediated depalmitoylation assay, in which solubilized synaptosomes are treated with recombinant mPPT1 or GFP generated from HEK293T cells during Acyl RAC (Fig 1Bii). (ii) Venn diagram of PPT1-mediated depalmitoylation assay (n =
Sreeganga S. Chandra (12329746) +8 more
core +1 more source
eLife, 2019 Protein palmitoylation and depalmitoylation alter protein function. This post-translational modification is critical for synaptic transmission and plasticity.
Kevin P Koster +5 more
doaj +1 more source
Neurobiology of Disease, 2002 Kainic acid (KA)-induced experimental epilepsy, a model of excitotoxicity, leads to selective neuronal death and synaptic restructuring. We used this model to investigate the effects of neuronal hyperactivation on palmitoyl-protein thioesterase 1 (PPT1),
J. Suopanki +6 more
doaj +1 more source
A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund [PDF]
Molecular Genetics and Metabolism, 2010 The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by progressive neurodegeneration and accumulation of autofluorescent storage granules. A 9-month-old Miniature Dachshund presented with NCL-like signs that included disorientation, ataxia, weakness, visual impairment, and behavioral changes.
Douglas N, Sanders +8 more
openaire +3 more sources
PPT1 depalmitoylates the IgG domain of synaptic adhesion molecules.
, 2022 4. (A) Domain organization of IgG domain-containing synaptic adhesion molecules identified as high-confidence PPT1 substrates with palmitoylation sites represented as lipid chains. IG-L–Ig-like; FN3 –fibronectin 3; TM–transmembrane.
Sreeganga S. Chandra (12329746) +8 more
core +1 more source
Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration [PDF]
G3 Genes|Genomes|Genetics, 2019 Abstract Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to progressive degeneration and eventually blindness.
Murgiano L +12 more
openaire +4 more sources
, 2022 Additional file 1: Figure S1. TCGA database-based comparison of PPT1 mRNA expression in the HCC tissues (n = 50) and its paired-normal tissues. ***P < 0.001. Figure S2. Comparison of PPT1 protein expression in patient-derived HCC tissues (n = 15) and its paired-normal tissues. ***P < 0.001. Figure S3.
Xu, Jianjun +10 more
openaire +1 more source
Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function
Neurobiology of Disease, 2010 Infantile-onset Neuronal Ceroid Lipofuscinosis (INCL) is a severe pediatric neurodegenerative disorder produced by mutations in the gene encoding palmitoyl-protein thioesterase 1 (Ppt1).
Stephanie Saja +4 more
doaj +1 more source