|1.||Jalanko, Anu: 4 articles (06/2015 - 01/2003)|
|2.||Hofmann, S L: 4 articles (02/2006 - 04/2000)|
|3.||Tyynelä, Jaana: 3 articles (06/2015 - 10/2003)|
|4.||Korey, Christopher A: 3 articles (01/2014 - 10/2010)|
|5.||Kopra, Outi: 3 articles (05/2008 - 01/2003)|
|6.||Lu, J Y: 3 articles (06/2001 - 04/2000)|
|7.||Das, A K: 3 articles (06/2001 - 04/2000)|
|8.||Dawson, G: 3 articles (01/2001 - 04/2000)|
|9.||Cho, S: 3 articles (01/2001 - 04/2000)|
|10.||Uusi-Rauva, Kristiina: 2 articles (06/2015 - 05/2008)|
|1.||Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
08/05/2014 - "Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns."
09/01/2013 - "The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in many cell types, particularly neurons of the central nervous system. "
04/01/2013 - "Here we investigated the role of inflammatory cells in palmitoyl protein thioesterase 1-deficient (Ppt1(-/-)) mice, a model of infantile neuronal ceroid lipofuscinosis (CLN1 disease, infantile), predominantly focusing on the visual system. "
04/23/2010 - "Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease."
01/01/2010 - "The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development."
|2.||Neurodegenerative Diseases (Neurodegenerative Disease)
10/01/2013 - "Infantile-onset neuronal ceroid lipofuscinosis (INCL) is a severe pediatric neurodegenerative disorder produced by mutations in the gene encoding palmitoyl-protein thioesterase 1 (Ppt1). "
10/01/2010 - "Infantile-onset Neuronal Ceroid Lipofuscinosis (INCL) is a severe pediatric neurodegenerative disorder produced by mutations in the gene encoding palmitoyl-protein thioesterase 1 (Ppt1). "
06/15/2001 - "Deficiency in a recently characterized lysosomal enzyme, palmitoyl-protein thioesterase (PPT), leads to a severe neurodegenerative disorder of children, infantile neuronal ceroid lipofuscinosis (NCL). "
08/09/1996 - "This finding raises important questions about the cellular location and function of palmitoyl protein thioesterase, mutations in which result in the neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis."
05/15/2008 - "Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disease caused by deficiency of palmitoyl protein thioesterase 1 (PPT1). "
|3.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/01/2014 - "We subsequently found in a targeted genetic screen, however, that altered function of cisd2 modified the effects of overexpressing the fly orthologues of two lysosomal storage disease genes, palmitoyl-protein thioesterase 1 (PPT1 in humans, Ppt1 in flies) and ceroid-lipofuscinosis, neuronal 3 (CLN3 in humans, cln3 in flies), on eye morphology in flies. "
06/01/2013 - "Infantile and late-infantile neuronal ceroid lipofuscinoses (NCLs) are invariably fatal lysosomal storage diseases associated with defects in lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT-1) or tripeptidyl peptidase 1 (TPP1) activity. "
07/01/1998 - "Infantile neuronal ceroid lipofuscinosis (INCL) is a neurodegenerative lysosomal storage disease that results from a deficiency of palmitoyl protein thioesterase (PPT), a deacylating enzyme that removes cysteine-bound palmitate from proteins. "
06/18/2015 - "Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells."
10/15/2000 - "Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells."
04/01/2000 - "Palmitoyl protein thioesterase 1 protects against apoptosis mediated by Ras-Akt-caspase pathway in neuroblastoma cells."
|5.||Status Epilepticus (Complex Partial Status Epilepticus)
|1.||infantile neuronal 1 Ceroid lipofuscinosis
|2.||Proteins (Proteins, Gene)
|4.||Fatty Acids (Saturated Fatty Acids)
|6.||Complementary DNA (cDNA)
|8.||Biological Markers (Surrogate Marker)
|9.||Triose-Phosphate Isomerase (Triosephosphate Isomerase)
|1.||Enzyme Replacement Therapy