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| Title : Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis - Lu_2015_Mol.Genet.Metab_116_98 |
| Author(s) : Lu JY , Nelvagal HR , Wang L , Birnbaum SG , Cooper JD , Hofmann SL |
| Ref : Mol Genet Metab , 116 :98 , 2015 |
| Abstract : Lu_2015_Mol.Genet.Metab_116_98 |
| ESTHER : Lu_2015_Mol.Genet.Metab_116_98 |
| PubMedSearch : Lu_2015_Mol.Genet.Metab_116_98 |
| PubMedID: 25982063 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis - Hu_2012_Mol.Genet.Metab_107_213 |
| Author(s) : Hu J , Lu JY , Wong AM , Hynan LS , Birnbaum SG , Yilmaz DS , Streit BM , Lenartowicz EM , Thompson TC , Cooper JD , Hofmann SL |
| Ref : Mol Genet Metab , 107 :213 , 2012 |
| Abstract : Hu_2012_Mol.Genet.Metab_107_213 |
| ESTHER : Hu_2012_Mol.Genet.Metab_107_213 |
| PubMedSearch : Hu_2012_Mol.Genet.Metab_107_213 |
| PubMedID: 22704978 |
| Gene_locus related to this paper: mouse-ppt |
| Title : A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund - Sanders_2010_Mol.Genet.Metab_100_349 |
| Author(s) : Sanders DN , Farias FH , Johnson GS , Chiang V , Cook JR , O'Brien DP , Hofmann SL , Lu JY , Katz ML |
| Ref : Mol Genet Metab , 100 :349 , 2010 |
| Abstract : Sanders_2010_Mol.Genet.Metab_100_349 |
| ESTHER : Sanders_2010_Mol.Genet.Metab_100_349 |
| PubMedSearch : Sanders_2010_Mol.Genet.Metab_100_349 |
| PubMedID: 20494602 |
| Title : Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis - Lu_2010_Mol.Genet.Metab_99_374 |
| Author(s) : Lu JY , Hu J , Hofmann SL |
| Ref : Mol Genet Metab , 99 :374 , 2010 |
| Abstract : Lu_2010_Mol.Genet.Metab_99_374 |
| ESTHER : Lu_2010_Mol.Genet.Metab_99_374 |
| PubMedSearch : Lu_2010_Mol.Genet.Metab_99_374 |
| PubMedID: 20036592 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response - Qiao_2007_BMC.Neurosci_8_95 |
| Author(s) : Qiao X , Lu JY , Hofmann SL |
| Ref : BMC Neurosci , 8 :95 , 2007 |
| Abstract : Qiao_2007_BMC.Neurosci_8_95 |
| ESTHER : Qiao_2007_BMC.Neurosci_8_95 |
| PubMedSearch : Qiao_2007_BMC.Neurosci_8_95 |
| PubMedID: 18021406 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins - Kyttala_2006_Biochim.Biophys.Acta_1762_920 |
| Author(s) : Kyttala A , Lahtinen U , Braulke T , Hofmann SL |
| Ref : Biochimica & Biophysica Acta , 1762 :920 , 2006 |
| Abstract : Kyttala_2006_Biochim.Biophys.Acta_1762_920 |
| ESTHER : Kyttala_2006_Biochim.Biophys.Acta_1762_920 |
| PubMedSearch : Kyttala_2006_Biochim.Biophys.Acta_1762_920 |
| PubMedID: 16839750 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Thematic review series: lipid posttranslational modifications. Lysosomal metabolism of lipid-modified proteins - Lu_2006_J.Lipid.Res_47_1352 |
| Author(s) : Lu JY , Hofmann SL |
| Ref : J Lipid Res , 47 :1352 , 2006 |
| Abstract : Lu_2006_J.Lipid.Res_47_1352 |
| ESTHER : Lu_2006_J.Lipid.Res_47_1352 |
| PubMedSearch : Lu_2006_J.Lipid.Res_47_1352 |
| PubMedID: 16627894 |
| Title : Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice - Virmani_2005_Neurobiol.Dis_20_314 |
| Author(s) : Virmani T , Gupta P , Liu X , Kavalali ET , Hofmann SL |
| Ref : Neurobiol Dis , 20 :314 , 2005 |
| Abstract : Virmani_2005_Neurobiol.Dis_20_314 |
| ESTHER : Virmani_2005_Neurobiol.Dis_20_314 |
| PubMedSearch : Virmani_2005_Neurobiol.Dis_20_314 |
| PubMedID: 16242638 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Early changes in gene expression in two models of Batten disease - Elshatory_2003_FEBS.Lett_538_207 |
| Author(s) : Elshatory Y , Brooks AI , Chattopadhyay S , Curran TM , Gupta P , Ramalingam V , Hofmann SL , Pearce DA |
| Ref : FEBS Letters , 538 :207 , 2003 |
| Abstract : Elshatory_2003_FEBS.Lett_538_207 |
| ESTHER : Elshatory_2003_FEBS.Lett_538_207 |
| PubMedSearch : Elshatory_2003_FEBS.Lett_538_207 |
| PubMedID: 12633880 |
| Gene_locus related to this paper: mouse-ppt |
| Title : 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_2003_J.Biol.Chem_278_37957 |
| Author(s) : Calero G , Gupta P , Nonato MC , Tandel S , Biehl ER , Hofmann SL , Clardy J |
| Ref : Journal of Biological Chemistry , 278 :37957 , 2003 |
| Abstract : Calero_2003_J.Biol.Chem_278_37957 |
| ESTHER : Calero_2003_J.Biol.Chem_278_37957 |
| PubMedSearch : Calero_2003_J.Biol.Chem_278_37957 |
| PubMedID: 12855696 |
| Gene_locus related to this paper: human-PPT2 |
| Title : Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features - Gupta_2003_Proc.Natl.Acad.Sci.U.S.A_100_12325 |
| Author(s) : Gupta P , Soyombo AA , Shelton JM , Wilkofsky IG , Wisniewski KE , Richardson JA , Hofmann SL |
| Ref : Proc Natl Acad Sci U S A , 100 :12325 , 2003 |
| Abstract : Gupta_2003_Proc.Natl.Acad.Sci.U.S.A_100_12325 |
| ESTHER : Gupta_2003_Proc.Natl.Acad.Sci.U.S.A_100_12325 |
| PubMedSearch : Gupta_2003_Proc.Natl.Acad.Sci.U.S.A_100_12325 |
| PubMedID: 14528005 |
| Gene_locus related to this paper: mouse-PPT2 |
| Title : Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice - Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| Author(s) : Gupta P , Soyombo AA , Atashband A , Wisniewski KE , Shelton JM , Richardson JA , Hammer RE , Hofmann SL |
| Ref : Proc Natl Acad Sci U S A , 98 :13566 , 2001 |
| Abstract : Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| ESTHER : Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| PubMedSearch : Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| PubMedID: 11717424 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis - Das_2001_Hum.Mol.Genet_10_1431 |
| Author(s) : Das AK , Lu JY , Hofmann SL |
| Ref : Hum Mol Genet , 10 :1431 , 2001 |
| Abstract : Das_2001_Hum.Mol.Genet_10_1431 |
| ESTHER : Das_2001_Hum.Mol.Genet_10_1431 |
| PubMedSearch : Das_2001_Hum.Mol.Genet_10_1431 |
| PubMedID: 11440996 |
| Gene_locus related to this paper: human-PPT1 |
| Title : The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis - Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| Author(s) : Bellizzi JJ, 3rd , Widom J , Kemp C , Lu JY , Das AK , Hofmann SL , Clardy J |
| Ref : Proc Natl Acad Sci U S A , 97 :4573 , 2000 |
| Abstract : Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| ESTHER : Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| PubMedSearch : Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| PubMedID: 10781062 |
| Gene_locus related to this paper: bovin-ppt , human-PPT1 |
| Title : Structural basis for the insensitivity of a serine enzyme (palmitoyl-protein thioesterase) to phenylmethylsulfonyl fluoride - Das_2000_J.Biol.Chem_275_23847 |
| Author(s) : Das AK , Bellizzi JJ, 3rd , Tandel S , Biehl E , Clardy J , Hofmann SL |
| Ref : Journal of Biological Chemistry , 275 :23847 , 2000 |
| Abstract : Das_2000_J.Biol.Chem_275_23847 |
| ESTHER : Das_2000_J.Biol.Chem_275_23847 |
| PubMedSearch : Das_2000_J.Biol.Chem_275_23847 |
| PubMedID: 10801859 |
| Gene_locus related to this paper: bovin-ppt2 , human-PPT1 |
| Title : Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis - Waliany_2000_Hum.Mutat_15_206 |
| Author(s) : Waliany S , Das AK , Gaben A , Wisniewski KE , Hofmann SL |
| Ref : Hum Mutat , 15 :206 , 2000 |
| Abstract : Waliany_2000_Hum.Mutat_15_206 |
| ESTHER : Waliany_2000_Hum.Mutat_15_206 |
| PubMedSearch : Waliany_2000_Hum.Mutat_15_206 |
| PubMedID: 10649502 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3 - Soyombo_1999_Genomics_56_208 |
| Author(s) : Soyombo AA , Yi W , Hofmann SL |
| Ref : Genomics , 56 :208 , 1999 |
| Abstract : Soyombo_1999_Genomics_56_208 |
| ESTHER : Soyombo_1999_Genomics_56_208 |
| PubMedSearch : Soyombo_1999_Genomics_56_208 |
| PubMedID: 10051407 |
| Gene_locus related to this paper: human-PPT2 |
| Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291 |
| Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM |
| Ref : Hum Mol Genet , 7 :291 , 1998 |
| Abstract : Mitchison_1998_Hum.Mol.Genet_7_291 |
| ESTHER : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedID: 9425237 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S - Das_1998_J.Clin.Invest_102_361 |
| Author(s) : Das AK , Becerra CH , Yi W , Lu JY , Siakotos AN , Wisniewski KE , Hofmann SL |
| Ref : Journal of Clinical Investigation , 102 :361 , 1998 |
| Abstract : Das_1998_J.Clin.Invest_102_361 |
| ESTHER : Das_1998_J.Clin.Invest_102_361 |
| PubMedSearch : Das_1998_J.Clin.Invest_102_361 |
| PubMedID: 9664077 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity - Soyombo_1997_J.Biol.Chem_272_27456 |
| Author(s) : Soyombo AA , Hofmann SL |
| Ref : Journal of Biological Chemistry , 272 :27456 , 1997 |
| Abstract : Soyombo_1997_J.Biol.Chem_272_27456 |
| ESTHER : Soyombo_1997_J.Biol.Chem_272_27456 |
| PubMedSearch : Soyombo_1997_J.Biol.Chem_272_27456 |
| PubMedID: 9341199 |
| Gene_locus related to this paper: human-PPT2 |
| Title : Lysosomal targeting of palmitoyl-protein thioesterase - Verkruyse_1996_J.Biol.Chem_271_15831 |
| Author(s) : Verkruyse LA , Hofmann SL |
| Ref : Journal of Biological Chemistry , 271 :15831 , 1996 |
| Abstract : Verkruyse_1996_J.Biol.Chem_271_15831 |
| ESTHER : Verkruyse_1996_J.Biol.Chem_271_15831 |
| PubMedSearch : Verkruyse_1996_J.Biol.Chem_271_15831 |
| PubMedID: 8663305 |
| Gene_locus related to this paper: bovin-ppt |
| Title : cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis - Schriner_1996_Genomics_34_317 |
| Author(s) : Schriner JE , Yi W , Hofmann SL |
| Ref : Genomics , 34 :317 , 1996 |
| Abstract : Schriner_1996_Genomics_34_317 |
| ESTHER : Schriner_1996_Genomics_34_317 |
| PubMedSearch : Schriner_1996_Genomics_34_317 |
| PubMedID: 8786130 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase - Lu_1996_Proc.Natl.Acad.Sci.U.S.A_93_10046 |
| Author(s) : Lu JY , Verkruyse LA , Hofmann SL |
| Ref : Proc Natl Acad Sci U S A , 93 :10046 , 1996 |
| Abstract : Lu_1996_Proc.Natl.Acad.Sci.U.S.A_93_10046 |
| ESTHER : Lu_1996_Proc.Natl.Acad.Sci.U.S.A_93_10046 |
| PubMedSearch : Lu_1996_Proc.Natl.Acad.Sci.U.S.A_93_10046 |
| PubMedID: 8816748 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis - Vesa_1995_Nature_376_584 |
| Author(s) : Vesa J , Hellsten E , Verkruyse LA , Camp LA , Rapola J , Santavuori P , Hofmann SL , Peltonen L |
| Ref : Nature , 376 :584 , 1995 |
| Abstract : Vesa_1995_Nature_376_584 |
| ESTHER : Vesa_1995_Nature_376_584 |
| PubMedSearch : Vesa_1995_Nature_376_584 |
| PubMedID: 7637805 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular cloning and expression of palmitoyl-protein thioesterase - Camp_1994_J.Biol.Chem_269_23212 |
| Author(s) : Camp LA , Verkruyse LA , Afendis SJ , Slaughter CA , Hofmann SL |
| Ref : Journal of Biological Chemistry , 269 :23212 , 1994 |
| Abstract : Camp_1994_J.Biol.Chem_269_23212 |
| ESTHER : Camp_1994_J.Biol.Chem_269_23212 |
| PubMedSearch : Camp_1994_J.Biol.Chem_269_23212 |
| PubMedID: 7916016 |
| Gene_locus related to this paper: bovin-ppt , ratno-ppt , human-PPT1 |