3.1.2.22 additional information no effect on palmitoylation of endothelial nitric oxide synthase 3.1.2.22 additional information mutations in the enzyme protein cause the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis 3.1.2.22 additional information defect in the palmitoyl-(protein) hydrolase gene causes a neurodegenerative disorder. Depalmitoylation of the still uncharacterized substrate(s) of the enzyme is critical for postnatal development or maintainance of cortical neurons 3.1.2.22 additional information the enzyme is required for the efficient lysosomal degradation of thioesters derived from S-acylated proteins 3.1.2.22 additional information enzyme deficiency causes infantile neuronal ceroid lipofuscinosis, the enzyme plays an important role in the development of the CNS 3.1.2.22 additional information enzyme deficiency causes progressive neurological and granular osmiophilic deposits, GROD, and infantile neuronal ceroid lipofuscinosis 3.1.2.22 additional information enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL 3.1.2.22 additional information enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL, a lysosomal storage disorder 3.1.2.22 additional information enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL, molecular basis 3.1.2.22 additional information enzyme deficiency causes the infantile form of neuronal ceroid lipofuscinosis INCL, a progressive encephalopathyof children 3.1.2.22 additional information epileptic seizures in adult rats lead to progressive and remarkable increase in enzyme activity inlimbic areas of the brain, the enzyme may protect neurons from excitotoxicity and have a role in synaptic plasticity, enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL 3.1.2.22 additional information PPT1 deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL 3.1.2.22 additional information PPT1 deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, only in neurons of the cerebral and cerbellar cortexes and retina not in other cell types, characterized by early loss of vision and massiv neuronal death 3.1.2.22 additional information PPT1 deficiency causes, together with tripeptidyl peptidase 1 deficiency, progressive neurological disorder infantile neuronal ceroid lipofuscinosis, a group of at least 8 inherited, progressive encephalopathies that are characterized by lipofuscin-like inclusions in various tissues and have been classified as CNL1-CNL8 3.1.2.22 additional information PPT1 mutations cause severe neurodegenerative storage disorder, termed infantile Batten, in humans, Schizosaccharomyces pombe is a genetically tractable model for the sutdy of this disease due to evolutionary highly conserved gene and function 3.1.2.22 additional information the enzyme has a role outside the lysosome in the brain and might be associated with synaptic functioning 3.1.2.22 additional information the enzyme is essential for both development and maintenance of cortical neurons, enzyme deficiency causes severe neurodegenerative disorders by loss of cortical neurons 3.1.2.22 additional information altough the ppt-1 gene is not essential for the animal‘s survival, its mutation results in a mild developmental and reproductive phenotype, affects the number and size of mitochondria and results in an abnormality in mitochondrial morphology 3.1.2.22 additional information in palmitoyl-protein thioesterase-1-knockout mice (that mimic human infantile neuronal ceroid lipofuscinosis) the endoplasmic reticulum in the brain cells is structurally abnormal. Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in human infantile neuronal ceroid lipofuscinosis 3.1.2.22 additional information Ppt1 modulates the activity of several pathways known to play a role in synaptic development either directly through its depalmitoylation activity or indirectly through effects on general endocytic mechanisms 3.1.2.22 additional information the most severe form of neuronal ceroid lipofuscinoses, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 gene, resulting in a deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 3.1.2.22 additional information depalmitoylation reaction, palmitoylation is the post-translational addition of a palmitate moiety to a cysteine residue through a covalent thioester bond 3.1.2.22 additional information PPT1 deficiency leads to abnormally low levels of soluble synaptic vesicle proteins like synaptobrevin 2 and SNAP25, that are known to undergo palmitoylation and are critical for fusion, exocytosis, recycling, and regeneration of fresh synaptic vesicles 3.1.2.22 palmitoyl-[protein] + H2O - 3.1.2.22 palmitoyl-[protein] + H2O palmitoylation plays critical roles in diverse biological functions, including membrane anchorage, vesicular transport, signal transduction and the maintenance of cellular architecture