Gene Review:
PPT1 - palmitoyl-protein thioesterase 1
Homo sapiens
Synonyms:
CLN1, INCL, PPT, PPT-1, Palmitoyl-protein hydrolase 1, ...
Zhong,
Wisniewski,
Lönnqvist,
Vanhanen,
Vettenranta,
Autti,
Rapola,
Santavuori,
Saarinen-Pihkala,
Zhong,
Wisniewski,
Ju,
Moroziewicz,
Jurkiewicz,
McLendon,
Jenkins,
Brown,
Tsukamoto,
Iida,
Dobashi,
Furukawa,
Konishi,
Van Diggelen,
Keulemans,
Kleijer,
Thobois,
Tilikete,
Voznyi,
Mitchison,
Hofmann,
Becerra,
Munroe,
Lake,
Crow,
Stephenson,
Williams,
Hofman,
Taschner,
Martin,
Philippart,
Andermann,
Andermann,
Mole,
Gardiner,
O'Rawe,
Junaid,
Pullarkat,
- Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses. Zhong, N.A., Wisniewski, K.E., Ju, W., Moroziewicz, D.N., Jurkiewicz, A., McLendon, L., Jenkins, E.C., Brown, W.T. Genet. Test. (2000)
- Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta, P., Soyombo, A.A., Atashband, A., Wisniewski, K.E., Shelton, J.M., Richardson, J.A., Hammer, R.E., Hofmann, S.L. Proc. Natl. Acad. Sci. U.S.A. (2001)
- Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis. Griffey, M., Bible, E., Vogler, C., Levy, B., Gupta, P., Cooper, J., Sands, M.S. Neurobiol. Dis. (2004)
- Overexpression in colorectal carcinoma of two lysosomal enzymes, CLN2 and CLN1, involved in neuronal ceroid lipofuscinosis. Tsukamoto, T., Iida, J., Dobashi, Y., Furukawa, T., Konishi, F. Cancer (2006)
- Palmitoyl protein thioesterase 1 protects against apoptosis mediated by Ras-Akt-caspase pathway in neuroblastoma cells. Cho, S., Dawson, G. J. Neurochem. (2000)
- The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. Calero, G., Gupta, P., Nonato, M.C., Tandel, S., Biehl, E.R., Hofmann, S.L., Clardy, J. J. Biol. Chem. (2003)
- Individual differences in cognitive aging: implication of pregnenolone sulfate. Mayo, W., George, O., Darbra, S., Bouyer, J.J., Vallée, M., Darnaudéry, M., Pallarès, M., Lemaire-Mayo, V., Le Moal, M., Piazza, P.V., Abrous, N. Prog. Neurobiol. (2003)
- The relation between psychometric test performance and physical performance in older adults. Binder, E.F., Storandt, M., Birge, S.J. J. Gerontol. A Biol. Sci. Med. Sci. (1999)
- Comparing diagnostic validity of the TAT and a new picture projective test. Sharkey, K.J., Ritzler, B.A. Journal of personality assessment. (1985)
- Long-term cued recall of tasks in senile dementia. Bird, M., Kinsella, G. Psychology and aging. (1996)
- Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Zhang, Z., Butler, J.D., Levin, S.W., Wisniewski, K.E., Brooks, S.S., Mukherjee, A.B. Nat. Med. (2001)
- Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Vesa, J., Hellsten, E., Verkruyse, L.A., Camp, L.A., Rapola, J., Santavuori, P., Hofmann, S.L., Peltonen, L. Nature (1995)
- Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells. Cho, S., Dawson, P.E., Dawson, G. J. Neurosci. Res. (2000)
- Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis. Cho, S., Dawson, P.E., Dawson, G. Eur. J. Paediatr. Neurol. (2001)
- Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis. Lu, J.Y., Hofmann, S.L. J. Inherit. Metab. Dis. (2006)
- A novel TARP-promoter-based adenovirus against hormone-dependent and hormone-refractory prostate cancer. Cheng, W.S., Kraaij, R., Nilsson, B., van der Weel, L., de Ridder, C.M., Tötterman, T.H., Essand, M. Mol. Ther. (2004)
- Stability of plasma human immunodeficiency virus load in VACUTAINER PPT plasma preparation tubes during overnight shipment. Holodniy, M., Rainen, L., Herman, S., Yen-Lieberman, B. J. Clin. Microbiol. (2000)
- Molecular genetics of the neuronal ceroid lipofuscinoses. Mole, S., Gardiner, M. Epilepsia (1999)
- Early changes in gene expression in two models of Batten disease. Elshatory, Y., Brooks, A.I., Chattopadhyay, S., Curran, T.M., Gupta, P., Ramalingam, V., Hofmann, S.L., Pearce, D.A. FEBS Lett. (2003)
- Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3. Soyombo, A.A., Yi, W., Hofmann, S.L. Genomics (1999)
- Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL). Haines, J.L., Boustany, R.M., Worster, T., Ter-Minassian, M., Jondro, P., Lerner, T.J. Am. J. Med. Genet. (1995)
- Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). Van Diggelen, O.P., Keulemans, J.L., Kleijer, W.J., Thobois, S., Tilikete, C., Voznyi, Y.V. Eur. J. Paediatr. Neurol. (2001)
- The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. Weimer, J.M., Kriscenski-Perry, E., Elshatory, Y., Pearce, D.A. Neuromolecular Med. (2002)
- Analysis of phospholipid molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry. Käkelä, R., Somerharju, P., Tyynelä, J. J. Neurochem. (2003)
- Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. Wisniewski, K.E., Kida, E., Walus, M., Wujek, P., Kaczmarski, W., Golabek, A.A. Eur. J. Paediatr. Neurol. (2001)
- Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. Zhang, Z., Lee, Y.C., Kim, S.J., Choi, M.S., Tsai, P.C., Xu, Y., Xiao, Y.J., Zhang, P., Heffer, A., Mukherjee, A.B. Hum. Mol. Genet. (2006)
- Outlook for future treatment. Zhong, N., Wisniewski, K.E. Adv. Genet. (2001)
- Characterization of a human MHC class III region gene product with S-thioesterase activity. Aguado, B., Campbell, R.D. Biochem. J. (1999)
- High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3. Sitter, B., Autti, T., Tyynelä, J., Sonnewald, U., Bathen, T.F., Puranen, J., Santavuori, P., Haltia, M.J., Paetau, A., Polvikoski, T., Gribbestad, I.S., Häkkinen, A.M. J. Neurosci. Res. (2004)
- Biochemistry of neuronal ceroid lipofuscinoses. Junaid, M.A., Pullarkat, R.K. Adv. Genet. (2001)
- Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'. Elleder, M., Franc, J., Kraus, J., Nevsímalová, S., Sixtová, K., Zeman, J. Eur. J. Paediatr. Neurol. (1997)
- Mitochondrial abnormalities in CLN2 and CLN3 forms of Batten disease. Dawson, G., Kilkus, J., Siakotos, A.N., Singh, I. Mol. Chem. Neuropathol. (1996)
- Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Mitchison, H.M., Hofmann, S.L., Becerra, C.H., Munroe, P.B., Lake, B.D., Crow, Y.J., Stephenson, J.B., Williams, R.E., Hofman, I.L., Taschner, P.E., Martin, J.J., Philippart, M., Andermann, E., Andermann, F., Mole, S.E., Gardiner, R.M., O'Rawe, A.M. Hum. Mol. Genet. (1998)
- The neuronal ceroid-lipofuscinoses. Goebel, H.H. Seminars in pediatric neurology. (1996)
- Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. Lönnqvist, T., Vanhanen, S.L., Vettenranta, K., Autti, T., Rapola, J., Santavuori, P., Saarinen-Pihkala, U.M. Neurology (2001)
- Differential regulation of ceramide in lipid-rich microdomains (rafts): antagonistic role of palmitoyl:protein thioesterase and neutral sphingomyelinase 2. Goswami, R., Ahmed, M., Kilkus, J., Han, T., Dawson, S.A., Dawson, G. J. Neurosci. Res. (2005)
- Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). Lehtovirta, M., Kyttälä, A., Eskelinen, E.L., Hess, M., Heinonen, O., Jalanko, A. Hum. Mol. Genet. (2001)