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<< < Results 11 - 20 of 25 > >>
EC Number Natural Substrates Commentary (Nat. Sub.)
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more 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
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more PPT1 deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more 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
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more 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
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more 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
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more the enzyme has a role outside the lysosome in the brain and might be associated with synaptic functioning
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more the enzyme is essential for both development and maintenance of cortical neurons, enzyme deficiency causes severe neurodegenerative disorders by loss of cortical neurons
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more 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
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more 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
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more 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
<< < Results 11 - 20 of 25 > >>