Interactions of the proteins of neuronal ceroid lipofuscinosis: Clues to function

Cellular and Molecular Life Sciences

Volumn 68, Issue 3, 2011, Pages 453-474

  Getty, Amanda L ^a,b   Pearce, David A ^a  

^a UNIVERSITY OF SOUTH DAKOTA   (United States)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

Batten disease; Lysosomal storage disorder

Indexed keywords

CALSENILIN; CATHEPSIN D; DIPEPTIDYL PEPTIDASE; LIPOFUSCIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; NOTCH RECEPTOR; PALMITOYL PROTEIN THIOESTERASE;

APOPTOSIS; CELL MATURATION; CELL PH; CELL PROLIFERATION; ENZYME ACTIVITY; GENE DELETION; GENE MUTATION; GLYCOSYLATION; HUMAN; NEURONAL CEROID LIPOFUSCINOSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; REVIEW; TARGET CELL;

AMINOPEPTIDASES; ANIMALS; CATHEPSIN D; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; HUMANS; LYSOSOMES; MEMBRANE PROTEINS; NEURONAL CEROID-LIPOFUSCINOSES; PROTEIN INTERACTION MAPPING; SERINE PROTEASES; THIOLESTER HYDROLASES;

EID: 79951552729     PISSN: 1420682X     EISSN: 14209071     Source Type: Journal    
DOI: 10.1007/s00018-010-0468-6     Document Type: Review

References (220)

1. AH Futerman G van Meer 2004 The cell biology of lysosomal storage disorders Nat Rev Mol Cell Biol 5 554 565 1:CAS:528:DC%2BD2cXlt1Ortb8%3D 15232573 (Pubitemid 38868584)
2. Goebel HH, Mole S, Lake BD (1999) The neuronal ceroid lipofuscinoses (Batten Disease). IOS Press, Amsterdam, Netherlands
3. SE Mole RE Williams HH Goebel 2005 Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses Neurogenetics 6 107 126 15965709 (Pubitemid 41396987)
4. JD Cooper C Russell HM Mitchison 2006 Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis Biochim Biophys Acta 1762 873 889 1:CAS:528:DC%2BD28XhtFekurbF 17023146 (Pubitemid 44740126)
5. JY Lu J Hu SL Hofmann 2010 Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis Mol Genet Metab 99 374 378 1:CAS:528:DC%2BC3cXjt1elsLY%3D 20036592
6. M Chang JD Cooper DE Sleat SH Cheng JC Dodge MA Passini P Lobel BL Davidson 2008 Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis Mol Ther 16 649 656 1:CAS:528:DC%2BD1cXjslCnt78%3D 18362923 (Pubitemid 351426165)
7. MA Griffey D Wozniak M Wong E Bible K Johnson SM Rothman AE Wentz JD Cooper MS Sands 2006 CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis Mol Ther 13 538 547 1:CAS:528:DC%2BD28Xhslykt7w%3D 16364693 (Pubitemid 43257621)
8. MA Passini JC Dodge J Bu W Yang Q Zhao D Sondhi NR Hackett SM Kaminsky Q Mao LS Shihabuddin SH Cheng DE Sleat GR Stewart BL Davidson P Lobel RG Crystal 2006 Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis J Neurosci 26 1334 1342 1:CAS:528:DC%2BD28XhsFaitro%3D 16452657 (Pubitemid 43237004)
9. SJ Tamaki Y Jacobs M Dohse A Capela JD Cooper M Reitsma D He R Tushinski PV Belichenko A Salehi W Mobley FH Gage S Huhn AS Tsukamoto IL Weissman N Uchida 2009 Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis Cell Stem Cell 5 310 319 1:CAS:528:DC%2BD1MXhsVCiurbL 19733542
10. DN Palmer RD Jolly HC van Mil J Tyynela VJ Westlake 1997 Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease) Neuropediatrics 28 45 48 1:CAS:528:DyaK2sXjs1Wrtbk%3D 9151321 (Pubitemid 27283158)
11. DN Palmer IM Fearnley JE Walker NA Hall BD Lake LS Wolfe M Haltia RD Martinus RD Jolly 1992 Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease) Am J Med Genet 42 561 567 1:STN:280:DyaK38zgtlKhsw%3D%3D 1535179
12. SS Seehafer DA Pearce 2006 You say lipofuscin, we say ceroid: defining autofluorescent storage material Neurobiol Aging 27 576 588 1:CAS:528: DC%2BD28XitVClsbc%3D 16455164 (Pubitemid 43290526)
13. E Siintola S Partanen P Stromme A Haapanen M Haltia J Maehlen AE Lehesjoki J Tyynela 2006 Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis Brain 129 1438 1445 16670177 (Pubitemid 43999376)
14. SN Phillips N Muzaffar S Codlin CA Korey PE Taschner G de Voer SE Mole DA Pearce 2006 Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems Biochim Biophys Acta 1762 906 919 1:CAS:528: DC%2BD28XhtFekurfK 17049819 (Pubitemid 44602365)
15. N Zaidi A Maurer S Nieke H Kalbacher 2008 Cathepsin D: a cellular roadmap Biochem Biophys Res Commun 376 5 9 1:CAS:528:DC%2BD1cXhtFyqtL%2FK 18762174
16. P Benes V Vetvicka M Fusek 2008 Cathepsin D-many functions of one aspartic protease Crit Rev Oncol Hematol 68 12 28 18396408
17. D Ramirez-Montealegre PG Rothberg DA Pearce 2006 Another disorder finds its gene Brain 129 1353 1356 16738059 (Pubitemid 43999369)
18. R Steinfeld K Reinhardt K Schreiber M Hillebrand R Kraetzner W Bruck P Saftig J Gartner 2006 Cathepsin D deficiency is associated with a human neurodegenerative disorder Am J Hum Genet 78 988 998 1:CAS:528: DC%2BD28XltVyks78%3D 16685649 (Pubitemid 43787690)
19. T Awano ML Katz DP O'Brien JF Taylor J Evans S Khan I Sohar P Lobel GS Johnson 2006 A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis Mol Genet Metab 87 341 348 1:CAS:528: DC%2BD28XivVGrtb4%3D 16386934
20. L Myllykangas J Tyynela A Page-McCaw GM Rubin MJ Haltia MB Feany 2005 Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses Neurobiol Dis 19 194 199 1:CAS:528:DC%2BD2MXjtlajsLk%3D 15837574 (Pubitemid 40544736)
21. J Tyynela I Sohar DE Sleat RM Gin RJ Donnelly M Baumann M Haltia P Lobel 2000 A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration EMBO J 19 2786 2792 1:CAS:528:DC%2BD3cXmtFCru7s%3D 10856224 (Pubitemid 30386751)
22. M Koike M Shibata Y Ohsawa H Nakanishi T Koga S Kametaka S Waguri T Momoi E Kominami C Peters K Figura P Saftig Y Uchiyama 2003 Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice Mol Cell Neurosci 22 146 161 1:CAS:528:DC%2BD3sXisFWmurg%3D 12676526 (Pubitemid 36379180)
23. M Koike H Nakanishi P Saftig J Ezaki K Isahara Y Ohsawa W Schulz-Schaeffer T Watanabe S Waguri S Kametaka M Shibata K Yamamoto E Kominami C Peters K von Figura Y Uchiyama 2000 Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons J Neurosci 20 6898 6906 1:CAS:528:DC%2BD3cXmvVGhsrc%3D 10995834
24. Shevtsova Z, Garrido M, Weishaupt J, Saftig P, Bahr M, Luhder F, Kugler S (2010) CNS-Expressed Cathepsin D Prevents Lymphopenia in a Murine Model of Congenital Neuronal Ceroid Lipofuscinosis. Am J Pathol doi: 10.2353/ajpath.2010. 091267[25 ]
25. Masson O, Bach AS, Derocq D, Prebois C, Laurent-Matha V, Pattingre S, Liaudet-Coopman E (2010) Pathophysiological functions of cathepsin D: targeting its catalytic activity versus its protein binding activity? Biochimie doi: 10.1016/j.biochi.2010.05.009
26. A Kenessey P Nacharaju LW Ko SH Yen 1997 Degradation of tau by lysosomal enzyme cathepsin D: implication for Alzheimer neurofibrillary degeneration J Neurochem 69 2026 2038 1:CAS:528:DyaK2sXmvVKktr0%3D 9349548 (Pubitemid 27452750)
27. M Heinrich J Neumeyer M Jakob C Hallas V Tchikov S Winoto-Morbach M Wickel W Schneider-Brachert A Trauzold A Hethke S Schutze 2004 Cathepsin D links TNF-induced acid sphingomyelinase to Bid-mediated caspase-9 and -3 activation Cell Death Differ 11 550 563 1:CAS:528:DC%2BD2cXjtFOisbc%3D 14739942 (Pubitemid 38660140)
28. P Saftig M Hetman W Schmahl K Weber L Heine H Mossmann A Koster B Hess M Evers K von Figura C Peters 1995 Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells EMBO J 14 3599 3608 1:CAS:528:DyaK2MXnsFGqtrk%3D 7641679
29. V Sagulenko D Muth E Sagulenko T Paffhausen M Schwab F Westermann 2008 Cathepsin D protects human neuroblastoma cells from doxorubicin-induced cell death Carcinogenesis 29 1869 1877 1:CAS:528:DC%2BD1cXht1SitLrM 18566016
30. AC Johansson H Steen K Ollinger K Roberg 2003 Cathepsin D mediates cytochrome c release and caspase activation in human fibroblast apoptosis induced by staurosporine Cell Death Differ 10 1253 1259 1:CAS:528: DC%2BD3sXotlaqsbs%3D 14576777 (Pubitemid 37407127)
31. O Schestkowa D Geisel R Jacob A Hasilik 2007 The catalytically inactive precursor of cathepsin D induces apoptosis in human fibroblasts and HeLa cells J Cell Biochem 101 1558 1566 1:CAS:528:DC%2BD2sXpt1ansr4%3D 17340625 (Pubitemid 47242783)
32. J Tyynela I Sohar DE Sleat RM Gin RJ Donnelly M Baumann M Haltia P Lobel 2001 Congenital ovine neuronal ceroid lipofuscinosis-a cathepsin D deficiency with increased levels of the inactive enzyme Eur J Paediatr Neurol 5 Suppl A 43 45 11589006 (Pubitemid 32677110)
33. KC Walls BJ Klocke P Saftig M Shibata Y Uchiyama KA Roth JJ Shacka 2007 Altered regulation of phosphatidylinositol 3-kinase signaling in cathepsin D-deficient brain Autophagy 3 222 229 1:CAS:528:DC%2BD2sXhtVGrtLjO 17297299 (Pubitemid 46752682)
34. B Haidar RS Kiss L Sarov-Blat R Brunet C Harder R McPherson YL Marcel 2006 Cathepsin D, a lysosomal protease, regulates ABCA1-mediated lipid efflux J Biol Chem 281 39971 39981 1:CAS:528:DC%2BD28XhtlCrtrfF 17032648 (Pubitemid 46041801)
35. MD Wang V Franklin M Sundaram RS Kiss K Ho M Gallant YL Marcel 2007 Differential regulation of ATP binding cassette protein A1 expression and ApoA-I lipidation by Niemann-Pick type C1 in murine hepatocytes and macrophages J Biol Chem 282 22525 22533 1:CAS:528:DC%2BD2sXot1WjtrY%3D 17553802 (Pubitemid 47267343)
36. S Jabs A Quitsch R Kakela B Koch J Tyynela H Brade M Glatzel S Walkley P Saftig MT Vanier T Braulke 2008 Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis J Neurochem 106 1415 1425 1:CAS:528:DC%2BD1cXpsFOisbo%3D 18498441
37. AL Mutka A Haapanen R Kakela M Lindfors AK Wright T Inkinen M Hermansson A Rokka G Corthals M Jauhiainen TH Gillingwater E Ikonen J Tyynela 2010 Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain J Neurochem 112 193 203 1:CAS:528:DC%2BC3cXhs1Ggsg%3D%3D 19845830
38. D el-Husseini Ael DS Bredt 2002 Protein palmitoylation: a regulator of neuronal development and function Nat Rev Neurosci 3 791 802 (Pubitemid 135706690)
39. HM Mitchison SL Hofmann CH Becerra PB Munroe BD Lake YJ Crow JB Stephenson RE Williams IL Hofman PE Taschner JJ Martin M Philippart E Andermann F Andermann SE Mole RM Gardiner AM O'Rawe 1998 Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits Hum Mol Genet 7 291 297 1:STN:280:DyaK1c%2FoslGrsA%3D%3D 9425237 (Pubitemid 28048545)
40. SL Hofmann AK Das W Yi JY Lu KE Wisniewski 1999 Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency Mol Genet Metab 66 234 239 1:CAS:528:DyaK1MXit1SntL8%3D 10191107 (Pubitemid 29390179)
41. J Vesa E Hellsten LA Verkruyse LA Camp J Rapola P Santavuori SL Hofmann L Peltonen 1995 Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis Nature 376 584 587 1:CAS:528: DyaK2MXns1Sjt7k%3D 7637805
42. LA Camp LA Verkruyse SJ Afendis CA Slaughter SL Hofmann 1994 Molecular cloning and expression of palmitoyl-protein thioesterase J Biol Chem 269 23212 23219 1:CAS:528:DyaK2cXmsV2gu78%3D 7916016 (Pubitemid 24283309)
43. DE Sleat I Sohar H Lackland J Majercak P Lobel 1996 Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis J Biol Chem 271 19191 19198 1:CAS:528:DyaK28XkvFyntL0%3D 8702598 (Pubitemid 26271584)
44. SL Hofmann A Atashband SK Cho AK Das P Gupta JY Lu 2002 Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2) Curr Mol Med 2 423 437 1:CAS:528:DC%2BD38XltlCqtL8%3D 12125808 (Pubitemid 34760025)
45. AK Das JY Lu SL Hofmann 2001 Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis Hum Mol Genet 10 1431 1439 1:CAS:528: DC%2BD3MXlsVegtL8%3D 11440996 (Pubitemid 32640672)
46. R Mazzei FL Conforti A Magariello C Bravaccio R Militerni AL Gabriele S Sampaolo A Patitucci G Di Iorio M Muglia A Quattrone 2002 A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis J Neurol 249 1398 1400 1:CAS:528:DC%2BD38XovFGruro%3D 12382155 (Pubitemid 35217661)
47. R Kalviainen K Eriksson M Losekoot I Sorri I Harvima P Santavuori I Jarvela T Autti R Vanninen T Salmenpera OP van Diggelen 2007 Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency Eur J Neurol 14 369 372 1:STN:280:DC%2BD2s7osl2iuw%3D%3D 17388982 (Pubitemid 46481155)
48. M Griffey E Bible C Vogler B Levy P Gupta J Cooper MS Sands 2004 Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis Neurobiol Dis 16 360 369 1:CAS:528:DC%2BD2cXkvVegtrw%3D 15193292 (Pubitemid 38757317)
49. M Griffey SL Macauley JM Ogilvie MS Sands 2005 AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis Mol Ther 12 413 421 1:CAS:528:DC%2BD2MXos1ahu7o%3D 15979943 (Pubitemid 41150126)
50. JJ Bellizzi 3rd J Widom C Kemp JY Lu AK Das SL Hofmann J Clardy 2000 The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis Proc Natl Acad Sci USA 97 4573 4578 1:CAS:528:DC%2BD3cXivFKjtrw%3D 10781062 (Pubitemid 30238599)
51. E Hellsten J Vesa VM Olkkonen A Jalanko L Peltonen 1996 Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis EMBO J 15 5240 5245 1:CAS:528:DyaK28XmsVeiurY%3D 8895569 (Pubitemid 26336207)
52. A Lyly C von Schantz T Salonen O Kopra J Saarela M Jauhiainen A Kyttala A Jalanko 2007 Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)-distinct characteristics in neurons BMC Cell Biol 8 22 17565660
53. LA Verkruyse SL Hofmann 1996 Lysosomal targeting of palmitoyl-protein thioesterase J Biol Chem 271 15831 15836 1:CAS:528:DyaK28XjvFWhsbg%3D 8663305 (Pubitemid 26225364)
54. JY Lu LA Verkruyse SL Hofmann 2002 The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function Biochim Biophys Acta 1583 35 44 1:CAS:528:DC%2BD38XksF2hsLg%3D 12069847 (Pubitemid 34634094)
55. LA Camp SL Hofmann 1993 Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras J Biol Chem 268 22566 22574 1:CAS:528:DyaK3sXlvFyhtro%3D 7901201 (Pubitemid 23318311)
56. L Ahtiainen OP Van Diggelen A Jalanko O Kopra 2003 Palmitoyl protein thioesterase 1 is targeted to the axons in neurons J Comp Neurol 455 368 377 1:CAS:528:DC%2BD3sXislyrtrs%3D 12483688 (Pubitemid 36076503)
57. O Heinonen A Kyttala E Lehmus T Paunio L Peltonen A Jalanko 2000 Expression of palmitoyl protein thioesterase in neurons Mol Genet Metab 69 123 129 1:CAS:528:DC%2BD3cXhsleqtL8%3D 10720439 (Pubitemid 30180696)
58. M Lehtovirta A Kyttala EL Eskelinen M Hess O Heinonen A Jalanko 2001 Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL) Hum Mol Genet 10 69 75 1:CAS:528:DC%2BD3MXovVOjsA%3D%3D 11136716 (Pubitemid 32051570)
59. SJ Kim Z Zhang C Sarkar PC Tsai YC Lee L Dye AB Mukherjee 2008 Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice J Clin Invest 118 3075 3086 1:CAS:528:DC%2BD1cXhtV2isb3J 18704195
60. T Virmani P Gupta X Liu ET Kavalali SL Hofmann 2005 Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice Neurobiol Dis 20 314 323 1:CAS:528: DC%2BD2MXhtFCjs7nI 16242638 (Pubitemid 41476259)
61. J Tyynela DN Palmer M Baumann M Haltia 1993 Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis FEBS Lett 330 8 12 1:STN:280:DyaK3szotVGktA%3D%3D 8370464 (Pubitemid 23263030)
62. SJ Kim Z Zhang YC Lee AB Mukherjee 2006 Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL Hum Mol Genet 15 1580 1586 1:CAS:528: DC%2BD28XktlSisb0%3D 16571600 (Pubitemid 43904824)
63. SJ Kim Z Zhang E Hitomi YC Lee AB Mukherjee 2006 Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL Hum Mol Genet 15 1826 1834 1:CAS:528:DC%2BD28Xksl2huro%3D 16644870 (Pubitemid 43821773)
64. H Wei SJ Kim Z Zhang PC Tsai KE Wisniewski AB Mukherjee 2008 ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones Hum Mol Genet 17 469 477 1:CAS:528:DC%2BD1cXhsVSnt7Y%3D 17989065 (Pubitemid 351201763)
65. Z Zhang YC Lee SJ Kim MS Choi PC Tsai Y Xu YJ Xiao P Zhang A Heffer AB Mukherjee 2006 Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL Hum Mol Genet 15 337 346 1:CAS:528:DC%2BD28XktF2ltw%3D%3D 16368712 (Pubitemid 43125987)
66. C Tardy F Sabourdy V Garcia A Jalanko N Therville T Levade N Andrieu-Abadie 2009 Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis Biochim Biophys Acta 1793 1250 1258 1:CAS:528:DC%2BD1MXnsFyit74%3D 19345705
67. SL Macauley DF Wozniak C Kielar Y Tan JD Cooper MS Sands 2009 Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse Exp Neurol 217 124 135 1:CAS:528:DC%2BD1MXkslKjsb4%3D 19416667
68. L Ahtiainen J Kolikova AL Mutka K Luiro M Gentile E Ikonen L Khiroug A Jalanko O Kopra 2007 Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction Neurobiol Dis 28 52 64 1:CAS:528:DC%2BD2sXhtVOgurzE 17656100 (Pubitemid 47440130)
69. H Buff AC Smith CA Korey 2007 Genetic modifiers of Drosophila palmitoyl-protein thioesterase 1-induced degeneration Genetics 176 209 220 1:CAS:528:DC%2BD2sXntlOgsrs%3D 17409080 (Pubitemid 350021020)
70. CA Korey ME MacDonald 2003 An over-expression system for characterizing Ppt1 function in Drosophila BMC Neurosci 4 30 14629778
71. A Lyly SK Marjavaara A Kyttala K Uusi-Rauva K Luiro O Kopra LO Martinez K Tanhuanpaa N Kalkkinen A Suomalainen M Jauhiainen A Jalanko 2008 Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism Hum Mol Genet 17 1406 1417 1:CAS:528:DC%2BD1cXltl2jurs%3D 18245779 (Pubitemid 351627337)
72. CD Cottone S Chattopadhyay DA Pearce 2001 Searching for interacting partners of CLN1, CLN2 and Btn1p with the two-hybrid system Eur J Paediatr Neurol 5 Suppl A 95 98 11589016 (Pubitemid 32677119)
73. KE Wisniewski E Kida M Walus P Wujek W Kaczmarski AA Golabek 2001 Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders Eur J Paediatr Neurol 5 Suppl A 73 79 11589013 (Pubitemid 32677116)
74. DE Sleat RJ Donnelly H Lackland CG Liu I Sohar RK Pullarkat P Lobel 1997 Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis Science 277 1802 1805 1:CAS:528: DyaK2sXmtFGht7Y%3D 9295267 (Pubitemid 27449188)
75. DE Sleat RM Gin I Sohar K Wisniewski S Sklower-Brooks RK Pullarkat DN Palmer TJ Lerner RM Boustany P Uldall AN Siakotos RJ Donnelly P Lobel 1999 Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder Am J Hum Genet 64 1511 1523 1:CAS:528:DyaK1MXltlOgtLY%3D 10330339 (Pubitemid 30481504)
76. AA Golabek E Kida 2006 Tripeptidyl-peptidase I in health and disease Biol Chem 387 1091 1099 1:CAS:528:DC%2BD28XptlSnur4%3D 16895480 (Pubitemid 44200504)
77. J Ezaki M Takeda-Ezaki K Oda E Kominami 2000 Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis Biochem Biophys Res Commun 268 904 908 1:CAS:528:DC%2BD3cXhtFGis70%3D 10679303 (Pubitemid 30150889)
78. L Lin I Sohar H Lackland P Lobel 2001 The human CLN2 protein/tripeptidyl- peptidase I is a serine protease that autoactivates at acidic pH J Biol Chem 276 2249 2255 1:CAS:528:DC%2BD3MXotVCluw%3D%3D 11054422 (Pubitemid 32109709)
79. J Guhaniyogi I Sohar K Das AM Stock P Lobel 2009 Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis J Biol Chem 284 3985 3997 1:CAS:528:DC%2BD1MXht1Oqsrg%3D 19038967
80. AA Golabek E Kida M Walus P Wujek P Mehta KE Wisniewski 2003 Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I J Biol Chem 278 7135 7145 1:CAS:528:DC%2BD3sXhsVKisLw%3D 12488460 (Pubitemid 36800712)
81. A Wlodawer SR Durell M Li H Oyama K Oda BM Dunn 2003 A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases BMC Struct Biol 3 8 14609438
82. K Tsiakas R Steinfeld S Storch J Ezaki Z Lukacs E Kominami A Kohlschutter K Ullrich T Braulke 2004 Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity Glycobiology 14 1C 5C 1:CAS:528:DC%2BD2cXjtVShur4%3D 14736728 (Pubitemid 38628107)
83. R Steinfeld HB Steinke D Isbrandt A Kohlschutter J Gartner 2004 Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes Hum Mol Genet 13 2483 2491 1:CAS:528:DC%2BD2cXnvVOktb0%3D 15317752 (Pubitemid 39377852)
84. P Wujek E Kida M Walus KE Wisniewski AA Golabek 2004 N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I J Biol Chem 279 12827 12839 1:CAS:528:DC%2BD2cXitl2gtLk%3D 14702339 (Pubitemid 38445856)
85. AA Golabek N Dolzhanskaya M Walus KE Wisniewski E Kida 2008 Prosegment of tripeptidyl peptidase I is a potent, slow-binding inhibitor of its cognate enzyme J Biol Chem 283 16497 16504 1:CAS:528:DC%2BD1cXmslOjtb8%3D 18411270
86. R Steinfeld JC Fuhrmann J Gartner 2006 Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates J Histochem Cytochem 54 991 996 1:CAS:528:DC%2BD28XosFCrtrY%3D 16782851 (Pubitemid 44298585)
87. Y Kurachi A Oka M Itoh M Mizuguchi M Hayashi S Takashima 2001 Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product Acta Neuropathol 102 20 26 1:CAS:528: DC%2BD3MXlslGksrY%3D 11547947 (Pubitemid 32734261)
88. DE Sleat M El-Banna I Sohar KH Kim K Dobrenis SU Walkley P Lobel 2008 Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis Mol Genet Metab 94 222 233 1:CAS:528:DC%2BD1cXmtVSgtbY%3D 18343701
89. MJ Warburton F Bernardini 2001 The specificity of lysosomal tripeptidyl peptidase-I determined by its action on angiotensin-II analogues FEBS Lett 500 145 148 1:CAS:528:DC%2BD3MXkvVels7s%3D 11445074 (Pubitemid 32607550)
90. F Bernardini MJ Warburton 2002 Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis Biochem J 366 521 529 1:CAS:528:DC%2BD38XnvFGltLg%3D 12038963 (Pubitemid 35001696)
91. S Kopan U Sivasubramaniam MJ Warburton 2004 The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis Biochem Biophys Res Commun 319 58 65 1:CAS:528: DC%2BD2cXkt1Cguro%3D 15158442 (Pubitemid 38670161)
92. H Autefage V Albinet V Garcia H Berges ML Nicolau N Therville MF Altie C Caillaud T Levade N Andrieu-Abadie 2009 Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner J Biol Chem 284 11507 11516 1:CAS:528:DC%2BD1MXkslalsbg%3D 19246452
93. J Ezaki M Takeda-Ezaki E Kominami 2000 Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase J Biochem 128 509 516 1:CAS:528:DC%2BD3cXns1altbk%3D 10965052
94. Y Tian I Sohar JW Taylor P Lobel 2006 Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates J Biol Chem 281 6559 6572 1:CAS:528:DC%2BD28XhvFOgs7k%3D 16339154 (Pubitemid 43847590)
95. J Vesa MH Chin K Oelgeschlager J Isosomppi EC DellAngelica A Jalanko L Peltonen 2002 Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3 Mol Biol Cell 13 2410 2420 1:CAS:528:DC%2BD38XlvVCku78%3D 12134079 (Pubitemid 34831344)
96. M Walus E Kida AA Golabek 2010 Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I Hum Mutat 31 710 721 1:CAS:528:DC%2BC3cXosl2lu7k%3D 20340139
97. M Savukoski T Klockars V Holmberg P Santavuori ES Lander L Peltonen 1998 CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis Nat Genet 19 286 288 1:CAS:528:DyaK1cXls1SnsLc%3D 9662406 (Pubitemid 28309345)
98. J Isosomppi J Vesa A Jalanko L Peltonen 2002 Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein Hum Mol Genet 11 885 891 1:CAS:528:DC%2BD38XjtlGktr4%3D 11971870 (Pubitemid 34449776)
99. ML Schmiedt C Bessa C Heine MG Ribeiro A Jalanko A Kyttala 2010 The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations Hum Mutat 31 356 365 1:CAS:528:DC%2BC3cXktVOnsrY%3D 20052765
100. V Holmberg A Jalanko J Isosomppi AL Fabritius L Peltonen O Kopra 2004 The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain Neurobiol Dis 16 29 40 1:CAS:528:DC%2BD2cXjs1altL0%3D 15207259 (Pubitemid 38569793)
101. DE Sleat L Ding S Wang C Zhao Y Wang W Xin H Zheng DF Moore KB Sims P Lobel 2009 Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology Mol Cell Proteomics 8 1708 1718 1:CAS:528:DC%2BD1MXos1GjurY%3D 19383612
102. AH Lebrun S Storch F Ruschendorf ML Schmiedt A Kyttala SE Mole C Kitzmuller K Saar LD Mewasingh V Boda A Kohlschutter K Ullrich T Braulke A Schulz 2009 Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship Hum Mutat 30 E651 E661 19309691
103. DE Sleat Y Wang I Sohar H Lackland Y Li H Li H Zheng P Lobel 2006 Identification and validation of mannose 6-phosphate glycoproteins in human plasma reveal a wide range of lysosomal and non-lysosomal proteins Mol Cell Proteomics 5 1942 1956 1:CAS:528:DC%2BD28XhtFGqsbfK 16709564 (Pubitemid 44688202)
104. J Vesa L Peltonen 2002 Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins Curr Mol Med 2 439 444 1:CAS:528:DC%2BD38XltlCqtLw%3D 12125809 (Pubitemid 34760026)
105. A Lyly C von Schantz C Heine ML Schmiedt T Sipila A Jalanko A Kyttala 2009 Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins BMC Cell Biol 10 83 19941651
106. C Bessa CA Teixeira M Mangas A Dias MC Sa Miranda A Guimaraes JC Ferreira N Canas P Cabral MG Ribeiro 2006 Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency Mol Genet Metab 89 245 253 1:CAS:528:DC%2BD28XhtVajsL7M 16814585 (Pubitemid 44442986)
107. T Klockars V Holmberg M Savukoski ES Lander L Peltonen 1999 Transcript identification on the CLN5 region on chromosome 13q22 Hum Genet 105 51 56 1:CAS:528:DyaK1MXmsVartbY%3D 10480355 (Pubitemid 29396964)
108. T Klockars M Savukoski J Isosomppi L Peltonen 1999 Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL Mol Genet Metab 66 324 328 1:CAS:528:DyaK1MXit1Snurg%3D 10191122 (Pubitemid 29390194)
109. N Pineda-Trujillo W Cornejo J Carrizosa RB Wheeler S Munera A Valencia J Agudelo-Arango A Cogollo G Anderson G Bedoya SE Mole A Ruiz-Linares 2005 A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset Neurology 64 740 742 1:STN:280:DC%2BD2M%2FpvVyhtw%3D%3D 15728307 (Pubitemid 40261913)
110. N Cannelli N Nardocci D Cassandrini M Morbin C Aiello M Bugiani L Criscuolo F Zara P Striano T Granata E Bertini A Simonati FM Santorelli 2007 Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis Neuropediatrics 38 46 49 1:CAS:528:DC%2BD2sXhtFKns77J 17607606 (Pubitemid 47226923)
111. BD Consortium 1995 Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium Cell 82 949 957
112. CH Chan HM Mitchison DA Pearce 2008 Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models Hum Mol Genet 17 3332 3339 1:CAS:528:DC%2BD1cXht1entrjJ 18678598
113. LR Margraf RL Boriack AA Routheut I Cuppen L Alhilali CJ Bennett MJ Bennett 1999 Tissue expression and subcellular localization of CLN3, the Batten disease protein Mol Genet Metab 66 283 289 1:CAS:528:DyaK1MXit1Snuro%3D 10191116 (Pubitemid 29390188)
114. AA Golabek W Kaczmarski E Kida A Kaczmarski MP Michalewski KE Wisniewski 1999 Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro Mol Genet Metab 66 277 282 1:CAS:528:DyaK1MXit1Snu74%3D 10191115 (Pubitemid 29390187)
115. E Kida W Kaczmarski AA Golabek A Kaczmarski M Michalewski KE Wisniewski 1999 Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro Mol Genet Metab 66 265 271 1:CAS:528:DyaK1MXit1Snu78%3D 10191113 (Pubitemid 29390185)
116. G Kremmidiotis IL Lensink RL Bilton E Woollatt TK Chataway GR Sutherland DF Callen 1999 The Batten disease gene product (CLN3p) is a Golgi integral membrane protein Hum Mol Genet 8 523 531 1:CAS:528:DyaK1MXhslKksr8%3D 9949212 (Pubitemid 29097341)
117. ML Katz CL Gao M Prabhakaram H Shibuya PC Liu GS Johnson 1997 Immunochemical localization of the Batten disease (CLN3) protein in retina Invest Ophthalmol Vis Sci 38 2375 2386 1:STN:280:DyaK1c%2FgtlSntA%3D%3D 9344361 (Pubitemid 27446955)
118. J Ezaki M Takeda-Ezaki M Koike Y Ohsawa H Taka R Mineki K Murayama Y Uchiyama T Ueno E Kominami 2003 Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein J Neurochem 87 1296 1308 1:CAS:528:DC%2BD3sXps1Ohsb4%3D 14622109 (Pubitemid 37485085)
119. S Storch S Pohl A Quitsch K Falley T Braulke 2007 C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes Traffic 8 431 444 1:CAS:528:DC%2BD2sXktFGis7s%3D 17286803 (Pubitemid 46421624)
120. K Luiro O Kopra M Lehtovirta A Jalanko 2001 CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease Hum Mol Genet 10 2123 2131 1:CAS:528:DC%2BD3MXnsl2ktbw%3D 11590129 (Pubitemid 32998824)
121. I Jarvela M Lehtovirta R Tikkanen A Kyttala A Jalanko 1999 Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) Hum Mol Genet 8 1091 1098 1:CAS:528:DyaK1MXjs1Wksr4%3D 10332042 (Pubitemid 29250898)
122. SN Phillips JW Benedict JM Weimer DA Pearce 2005 CLN3, the protein associated with batten disease: structure, function and localization J Neurosci Res 79 573 583 1:CAS:528:DC%2BD2MXit1Smsro%3D 15657902 (Pubitemid 40476436)
123. S Storch S Pohl T Braulke 2004 A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting J Biol Chem 279 53625 53634 1:CAS:528:DC%2BD2cXhtVKqu7zE 15469932 (Pubitemid 40051870)
124. A Kyttala K Yliannala P Schu A Jalanko JP Luzio 2005 AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif J Biol Chem 280 10277 10283 15598649 (Pubitemid 40395883)
125. A Kyttala G Ihrke J Vesa MJ Schell JP Luzio 2004 Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells Mol Biol Cell 15 1313 1323 14699076 (Pubitemid 38316237)
126. Q Mao BJ Foster H Xia BL Davidson 2003 Membrane topology of CLN3, the protein underlying Batten disease FEBS Lett 541 40 46 1:CAS:528: DC%2BD3sXjtFWrtr0%3D 12706816 (Pubitemid 36428914)
127. Q Mao H Xia BL Davidson 2003 Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease FEBS Lett 555 351 357 1:CAS:528:DC%2BD3sXpsVWjtrw%3D 14644441 (Pubitemid 37486054)
128. T Nugent SE Mole DT Jones 2008 The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data FEBS Lett 582 1019 1024 1:CAS:528: DC%2BD1cXjs1KhsLY%3D 18314010
129. S Fields O Song 1989 A novel genetic system to detect protein-protein interactions Nature 340 245 246 1:CAS:528:DyaL1MXltlShsL8%3D 2547163 (Pubitemid 19171591)
130. K Uusi-Rauva K Luiro K Tanhuanpaa O Kopra P Martin-Vasallo A Kyttala A Jalanko 2008 Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex Exp Cell Res 314 2895 2905 1:CAS:528:DC%2BD1cXhtVKnu7fP 18621045
131. MA De Matteis JS Morrow 2000 Spectrin tethers and mesh in the biosynthetic pathway J Cell Sci 113 2331 2343 10852813 (Pubitemid 30599339)
132. V Bennett AJ Baines 2001 Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues Physiol Rev 81 1353 1392 1:CAS:528:DC%2BD3MXlt1Ohsrg%3D 11427698 (Pubitemid 32606672)
133. WE Zimmer Y Zhao AF Sikorski SD Critz J Sangerman LA Elferink XS Xu SR Goodman 2000 The domain of brain beta-spectrin responsible for synaptic vesicle association is essential for synaptic transmission Brain Res 881 18 27 1:CAS:528:DC%2BD3cXntF2gsLo%3D 11033089
134. WJ Nelson RW Hammerton 1989 A membrane-cytoskeletal complex containing Na+, K+-ATPase, ankyrin, and fodrin in Madin-Darby canine kidney (MDCK) cells: implications for the biogenesis of epithelial cell polarity J Cell Biol 108 893 902 1:CAS:528:DyaL1MXhsFWlurw%3D 2537837 (Pubitemid 19083741)
135. K Kizhatil NK Sandhu NS Peachey V Bennett 2009 Ankyrin-B is required for coordinated expression of beta-2-spectrin, the Na/K-ATPase and the Na/Ca exchanger in the inner segment of rod photoreceptors Exp Eye Res 88 57 64 1:CAS:528:DC%2BD1cXhsFajs7bF 19007774
136. JH Kaplan 2002 Biochemistry of Na, K-ATPase Annu Rev Biochem 71 511 535 1:CAS:528:DC%2BD38Xos1Cltrc%3D 12045105
137. K Geering 2008 Functional roles of Na, K-ATPase subunits Curr Opin Nephrol Hypertens 17 526 532 1:CAS:528:DC%2BD1cXhtVejtbfN 18695395
138. Crambert G, Geering K (2003). FXYD proteins: new tissue-specific regulators of the ubiquitous Na, K-ATPase. Sci STKE 2003, RE1
139. G Blanco RW Mercer 1998 Isozymes of the Na-K-ATPase: heterogeneity in structure, diversity in function Am J Physiol 275 F633 F650 1:CAS:528: DyaK1cXnsF2ltL4%3D 9815123
140. K Luiro K Yliannala L Ahtiainen H Maunu I Jarvela A Kyttala A Jalanko 2004 Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway Hum Mol Genet 13 3017 3027 1:CAS:528: DC%2BD2cXhtVSkt7fP 15471887 (Pubitemid 39585234)
141. H Kramer M Phistry 1996 Mutations in the Drosophila hook gene inhibit endocytosis of the boss transmembrane ligand into multivesicular bodies J Cell Biol 133 1205 1215 1:CAS:528:DyaK28XjslKjsbs%3D 8682859 (Pubitemid 26192324)
142. JH Walenta AJ Didier X Liu H Kramer 2001 The Golgi-associated hook3 protein is a member of a novel family of microtubule-binding proteins J Cell Biol 152 923 934 1:CAS:528:DC%2BD3MXhslGmtbk%3D 11238449 (Pubitemid 34286069)
143. H Kramer M Phistry 1999 Genetic analysis of hook, a gene required for endocytic trafficking in drosophila Genetics 151 675 684 1:CAS:528: DyaK1MXhtlCgsrc%3D 9927460 (Pubitemid 29082935)
144. JM Weimer S Chattopadhyay AW Custer DA Pearce 2005 Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1 Biochem Biophys Res Commun 330 1176 1181 1:CAS:528:DC%2BD2MXjtVyksrc%3D 15823567
145. K Geering 2005 Function of FXYD proteins, regulators of Na, K-ATPase J Bioenerg Biomembr 37 387 392 1:CAS:528:DC%2BD28XjsV2htr0%3D 16691470 (Pubitemid 43725163)
146. EM Rose JC Koo JE Antflick SM Ahmed S Angers DR Hampson 2009 Glutamate transporter coupling to Na, K-ATPase J Neurosci 29 8143 8155 1:CAS:528:DC%2BD1MXotFKgtbc%3D 19553454
147. D Zhang Q Hou M Wang A Lin L Jarzylo A Navis A Raissi F Liu HY Man 2009 Na, K-ATPase activity regulates AMPA receptor turnover through proteasome-mediated proteolysis J Neurosci 29 4498 4511 1:CAS:528: DC%2BD1MXkvVyms78%3D 19357275
148. AD Kovacs JM Weimer DA Pearce 2006 Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease Neurobiol Dis 22 575 585 1:CAS:528:DC%2BD28Xls1alu7Y%3D 16483786 (Pubitemid 43832129)
149. S Chattopadhyay M Ito JD Cooper AI Brooks TM Curran JM Powers DA Pearce 2002 An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease Hum Mol Genet 11 1421 1431 1:CAS:528:DC%2BD38XksFWmsL0%3D 12023984
150. K Luiro O Kopra T Blom M Gentile HM Mitchison I Hovatta K Tornquist A Jalanko 2006 Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments J Neurosci Res 84 1124 1138 1:CAS:528:DC%2BD28XhtV2htrbP 16941499 (Pubitemid 44521057)
151. WF An MR Bowlby M Betty J Cao HP Ling G Mendoza JW Hinson KI Mattsson BW Strassle JS Trimmer KJ Rhodes 2000 Modulation of A-type potassium channels by a family of calcium sensors Nature 403 553 556 1:CAS:528:DC%2BD3cXht1Witr8%3D 10676964 (Pubitemid 30082201)
152. JD Buxbaum EK Choi Y Luo C Lilliehook AC Crowley DE Merriam W Wasco 1998 Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment Nat Med 4 1177 1181 1:CAS:528:DyaK1cXms1Ggt70%3D 9771752 (Pubitemid 28468832)
153. C Lilliehook S Chan EK Choi NF Zaidi W Wasco MP Mattson JD Buxbaum 2002 Calsenilin enhances apoptosis by altering endoplasmic reticulum calcium signaling Mol Cell Neurosci 19 552 559 1:CAS:528:DC%2BD38Xjt12rtbs%3D 11988022 (Pubitemid 34499534)
154. EK Choi NF Zaidi JS Miller AC Crowley DE Merriam C Lilliehook JD Buxbaum W Wasco 2001 Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2 J Biol Chem 276 19197 19204 1:CAS:528:DC%2BD3MXkt12rs7Y%3D 11278424
155. DG Jo MJ Kim YH Choi IK Kim YH Song HN Woo CW Chung YK Jung 2001 Pro-apoptotic function of calsenilin/DREAM/KChIP3 FASEB J 15 589 591 1:CAS:528:DC%2BD3MXitFWms7w%3D 11259376
156. AM Carrion WA Link F Ledo B Mellstrom JR Naranjo 1999 DREAM is a Ca2+-regulated transcriptional repressor Nature 398 80 84 1:STN:280: DyaK1M7ns1Chsg%3D%3D 10078534
157. NF Zaidi EE Thomson EK Choi JD Buxbaum W Wasco 2004 Intracellular calcium modulates the nuclear translocation of calsenilin J Neurochem 89 593 601 1:CAS:528:DC%2BD2cXjslWqu74%3D 15086516 (Pubitemid 38534145)
158. JW Chang H Choi HJ Kim DG Jo YJ Jeon JY Noh WJ Park YK Jung 2007 Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin Hum Mol Genet 16 317 326 1:CAS:528:DC%2BD2sXhtlKjtbk%3D 17189291 (Pubitemid 46323187)
159. L Yu C Sun R Mendoza J Wang ED Matayoshi E Hebert A Pereda-Lopez PJ Hajduk ET Olejniczak 2007 Solution structure and calcium-binding properties of EF-hands 3 and 4 of calsenilin Protein Sci 16 2502 2509 1:CAS:528: DC%2BD2sXht1ygu7nO 17962406 (Pubitemid 350036755)
160. R Shibata H Misonou CR Campomanes AE Anderson LA Schrader LC Doliveira KI Carroll JD Sweatt KJ Rhodes JS Trimmer 2003 A fundamental role for KChIPs in determining the molecular properties and trafficking of Kv4.2 potassium channels J Biol Chem 278 36445 36454 1:CAS:528:DC%2BD3sXnt1ejsb4%3D 12829703 (Pubitemid 37139974)
161. K Wang 2008 Modulation by clamping: Kv4 and KChIP interactions Neurochem Res 33 1964 1969 18415675
162. SG Birnbaum AW Varga LL Yuan AE Anderson JD Sweatt LA Schrader 2004 Structure and function of Kv4-family transient potassium channels Physiol Rev 84 803 833 1:CAS:528:DC%2BD2cXmtlCnurc%3D 15269337 (Pubitemid 38823767)
163. B Cebolla A Fernandez-Perez G Perea A Araque M Vallejo 2008 DREAM mediates cAMP-dependent, Ca2+-induced stimulation of GFAP gene expression and regulates cortical astrogliogenesis J Neurosci 28 6703 6713 1:CAS:528: DC%2BD1cXotF2hur0%3D 18579744
164. CC Pontikis SL Cotman ME MacDonald JD Cooper 2005 Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease Neurobiol Dis 20 823 836 1:CAS:528:DC%2BD2MXht1egsbzL 16006136 (Pubitemid 41619358)
165. R Francis G McGrath J Zhang DA Ruddy M Sym J Apfeld M Nicoll M Maxwell B Hai MC Ellis AL Parks W Xu J Li M Gurney RL Myers CS Himes R Hiebsch C Ruble JS Nye D Curtis 2002 aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation Dev Cell 3 85 97 1:CAS:528:DC%2BD38XlsFSmsL4%3D 12110170 (Pubitemid 34778398)
166. C Lilliehook O Bozdagi J Yao M Gomez-Ramirez NF Zaidi W Wasco S Gandy AC Santucci V Haroutunian GW Huntley JD Buxbaum 2003 Altered Abeta formation and long-term potentiation in a calsenilin knock-out J Neurosci 23 9097 9106 1:CAS:528:DC%2BD3sXotFOms7c%3D 14534243 (Pubitemid 37243810)
167. JD Lathia MP Mattson A Cheng 2008 Notch: from neural development to neurological disorders J Neurochem 107 1471 1481 1:CAS:528: DC%2BD1MXis1Sluw%3D%3D 19094054
168. JM Weimer JW Benedict AL Getty CC Pontikis MJ Lim JD Cooper DA Pearce 2009 Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis Brain Res 1266 93 107 1:CAS:528:DC%2BD1MXktFalsbg%3D 19230832
169. DJ Solecki XL Liu T Tomoda Y Fang ME Hatten 2001 Activated Notch2 signaling inhibits differentiation of cerebellar granule neuron precursors by maintaining proliferation Neuron 31 557 568 1:CAS:528:DC%2BD3MXmvV2itbo%3D 11545715 (Pubitemid 32835111)
170. RI Tuxworth V Vivancos MB O'Hare G Tear 2009 Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways Hum Mol Genet 18 667 678 1:CAS:528:DC%2BD1MXhtVWjsb8%3D 19028667
171. N Kataoka MD Diem VN Kim J Yong G Dreyfuss 2001 Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon-exon junction complex EMBO J 20 6424 6433 1:CAS:528:DC%2BD3MXovFOntb4%3D 11707413 (Pubitemid 33078715)
172. DR Micklem R Dasgupta H Elliott F Gergely C Davidson A Brand A Gonzalez-Reyes D St Johnston 1997 The mago nashi gene is required for the polarisation of the oocyte and the formation of perpendicular axes in Drosophila Curr Biol 7 468 478 1:CAS:528:DyaK2sXkslequ7w%3D 9210377 (Pubitemid 27308970)
173. SP Vitiello JW Benedict S Padilla-Lopez DA Pearce 2010 Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease Hum Mol Genet 19 931 942 1:CAS:528:DC%2BC3cXhs1Kguro%3D 20015955
174. GR Boocock MR Marit JM Rommens 2006 Phylogeny, sequence conservation, and functional complementation of the SBDS protein family Genomics 87 758 771 1:CAS:528:DC%2BD28XltVOltr8%3D 16529906 (Pubitemid 43776867)
175. TF Menne B Goyenechea N Sanchez-Puig CC Wong LM Tonkin PJ Ancliff RL Brost M Costanzo C Boone AJ Warren 2007 The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast Nat Genet 39 486 495 1:CAS:528:DC%2BD2sXjsV2hs78%3D 17353896 (Pubitemid 46514776)
176. JS Luz RC Georg CH Gomes GM Machado-Santelli CC Oliveira 2009 Sdo1p, the yeast orthologue of Shwachman-Bodian-Diamond syndrome protein, binds RNA and interacts with nuclear rRNA-processing factors Yeast 26 287 298 1:CAS:528:DC%2BD1MXmt1Cmsb8%3D 19350533
177. HL Ball B Zhang JJ Riches R Gandhi J Li JM Rommens JS Myers 2009 Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses Hum Mol Genet 18 3684 3695 1:CAS:528: DC%2BD1MXhtFagsbjK 19602484
178. GR Boocock JA Morrison M Popovic N Richards L Ellis PR Durie JM Rommens 2003 Mutations in SBDS are associated with Shwachman-Diamond syndrome Nat Genet 33 97 101 1:CAS:528:DC%2BD38XpvVeqs7o%3D 12496757 (Pubitemid 36068690)
179. S Toiviainen-Salo O Makitie M Mannerkoski J Hamalainen L Valanne T Autti 2008 Shwachman-Diamond syndrome is associated with structural brain alterations on MRI Am J Med Genet A 146A 1558 1564 18478597 (Pubitemid 351792402)
180. RL Boriack MJ Bennett 2001 CLN-3 protein is expressed in the pancreatic somatostatin-secreting delta cells Eur J Paediatr Neurol 5 Suppl A 99 102 11589017 (Pubitemid 32677120)
181. D Wessels T Srikantha S Yi S Kuhl L Aravind DR Soll 2006 The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis J Cell Sci 119 370 379 1:CAS:528:DC%2BD28Xhs1eitbo%3D 16410554 (Pubitemid 43210705)
182. V Stepanovic D Wessels FD Goldman J Geiger DR Soll 2004 The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes Cell Motil Cytoskeleton 57 158 174 1:CAS:528:DC%2BD2cXislyksL8%3D 14743349 (Pubitemid 38263868)
183. M Vicente-Manzanares X Ma RS Adelstein AR Horwitz 2009 Non-muscle myosin II takes centre stage in cell adhesion and migration Nat Rev Mol Cell Biol 10 778 790 1:CAS:528:DC%2BD1MXhtlSjur7I 19851336
184. JD Sharp RB Wheeler BD Lake M Fox RM Gardiner RE Williams 1999 Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23 Mol Genet Metab 66 329 331 1:CAS:528:DyaK1MXit1SntLo%3D 10191123 (Pubitemid 29390195)
185. H Gao RM Boustany JA Espinola SL Cotman L Srinidhi KA Antonellis T Gillis X Qin S Liu LR Donahue RT Bronson JR Faust D Stout JL Haines TJ Lerner ME MacDonald 2002 Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse Am J Hum Genet 70 324 335 1:CAS:528:DC%2BD38XhsVSqsLY%3D 11791207 (Pubitemid 34112288)
186. C Heine B Koch S Storch A Kohlschutter DN Palmer T Braulke 2004 Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A J Biol Chem 279 22347 22352 1:CAS:528:DC%2BD2cXjvF2rtrs%3D 15010453 (Pubitemid 38679431)
187. SE Mole G Michaux S Codlin RB Wheeler JD Sharp DF Cutler 2004 CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein Exp Cell Res 298 399 406 1:CAS:528:DC%2BD2cXlvVWhtrw%3D 15265688 (Pubitemid 38950857)
188. C Heine A Quitsch S Storch Y Martin L Lonka AE Lehesjoki SE Mole T Braulke 2007 Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6 Mol Membr Biol 24 74 87 1:CAS:528:DC%2BD2sXitlykurk%3D 17453415
189. JW Benedict AL Getty TM Wishart TH Gillingwater DA Pearce 2009 Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2 J Neurosci Res 87 2157 2166 1:CAS:528:DC%2BD1MXlvV2rt7Y%3D 19235893
190. N Inagaki K Chihara N Arimura C Menager Y Kawano N Matsuo T Nishimura M Amano K Kaibuchi 2001 CRMP-2 induces axons in cultured hippocampal neurons Nat Neurosci 4 781 782 1:CAS:528:DC%2BD3MXlslSjs7g%3D 11477421 (Pubitemid 32702507)
191. N Arimura C Menager Y Fukata K Kaibuchi 2004 Role of CRMP-2 in neuronal polarity J Neurobiol 58 34 47 1:CAS:528:DC%2BD2cXlvVemsw%3D%3D 14598368 (Pubitemid 37543336)
192. T Yoshimura Y Kawano N Arimura S Kawabata A Kikuchi K Kaibuchi 2005 GSK-3beta regulates phosphorylation of CRMP-2 and neuronal polarity Cell 120 137 149 1:CAS:528:DC%2BD2MXot1CgsQ%3D%3D 15652488 (Pubitemid 40094609)
193. T Nishimura Y Fukata K Kato T Yamaguchi Y Matsuura H Kamiguchi K Kaibuchi 2003 CRMP-2 regulates polarized Numb-mediated endocytosis for axon growth Nat Cell Biol 5 819 826 1:CAS:528:DC%2BD3sXmvVWlurw%3D 12942088 (Pubitemid 37087170)
194. Y Fukata TJ Itoh T Kimura C Menager T Nishimura T Shiromizu H Watanabe N Inagaki A Iwamatsu H Hotani K Kaibuchi 2002 CRMP-2 binds to tubulin heterodimers to promote microtubule assembly Nat Cell Biol 4 583 591 1:CAS:528: DC%2BD38Xls1OrtL0%3D 12134159
195. Y Kawano T Yoshimura D Tsuboi S Kawabata T Kaneko-Kawano H Shirataki T Takenawa K Kaibuchi 2005 CRMP-2 is involved in kinesin-1-dependent transport of the Sra-1/WAVE1 complex and axon formation Mol Cell Biol 25 9920 9935 1:CAS:528:DC%2BD2MXht1altrjN 16260607 (Pubitemid 41572740)
196. RB Wheeler JD Sharp WA Mitchell SL Bate RE Williams BD Lake RM Gardiner 1999 A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7 Mol Genet Metab 66 337 338 1:CAS:528:DyaK1MXit1SntLw%3D 10191125 (Pubitemid 29390197)
197. WA Mitchell RB Wheeler JD Sharp SL Bate RM Gardiner US Ranta L Lonka RE Williams AE Lehesjoki SE Mole 2001 Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8 Eur J Paediatr Neurol 5 Suppl A 21 27 11589000 (Pubitemid 32677106)
198. M Kousi E Siintola L Dvorakova H Vlaskova J Turnbull M Topcu D Yuksel S Gokben BA Minassian M Elleder SE Mole AE Lehesjoki 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis Brain 132 810 819 19201763
199. C Aiello A Terracciano A Simonati G Discepoli N Cannelli D Claps YJ Crow M Bianchi C Kitzmuller D Longo A Tavoni E Franzoni A Tessa E Veneselli R Boldrini M Filocamo RE Williams ES Bertini R Biancheri R Carrozzo SE Mole FM Santorelli 2009 Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis Hum Mutat 30 E530 E540 19177532
200. E Siintola M Topcu N Aula H Lohi BA Minassian AD Paterson XQ Liu C Wilson U Lahtinen AK Anttonen AE Lehesjoki 2007 The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter Am J Hum Genet 81 136 146 1:CAS:528:DC%2BD2sXnt1CksLY%3D 17564970 (Pubitemid 47001163)
201. Steenhuis P, Herder S, Gelis S, Braulke T, Storch S (2010) Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif. Traffic doi: 10.1111/j.1600-0854.2010.01073. x
202. SS Pao IT Paulsen MH Saier Jr 1998 Major facilitator superfamily Microbiol Mol Biol Rev 62 1 34 1:CAS:528:DyaK1cXitF2jsLg%3D 9529885 (Pubitemid 28130794)
203. S Ranta M Topcu S Tegelberg H Tan A Ustubutun I Saatci A Dufke H Enders K Pohl Y Alembik WA Mitchell SE Mole AE Lehesjoki 2004 Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy Hum Mutat 23 300 305 1:CAS:528:DC%2BD2cXjslGrsrc%3D 15024724 (Pubitemid 38461511)
204. S Ranta Y Zhang B Ross L Lonka E Takkunen A Messer J Sharp R Wheeler K Kusumi S Mole W Liu MB Soares MF Bonaldo A Hirvasniemi A de la Chapelle TC Gilliam AE Lehesjoki 1999 The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 Nat Genet 23 233 236 1:CAS:528:DyaK1MXmtlOhuro%3D 10508524 (Pubitemid 29455400)
205. K Reinhardt M Grapp K Schlachter W Bruck J Gartner R Steinfeld 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis Clin Genet 77 79 85 1:CAS:528: DC%2BC3cXhsVyrtrg%3D 19807737
206. N Cannelli D Cassandrini E Bertini P Striano L Fusco R Gaggero N Specchio R Biancheri F Vigevano C Bruno A Simonati F Zara FM Santorelli 2006 Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean Neurogenetics 7 111 117 1:CAS:528:DC%2BD28XktFSqurw%3D 16570191
207. C Vantaggiato F Redaelli S Falcone C Perrotta A Tonelli S Bondioni M Morbin D Riva V Saletti MC Bonaglia R Giorda N Bresolin E Clementi MT Bassi 2009 A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function Hum Mutat 30 1104 1116 1:CAS:528:DC%2BD1MXptlSjtL4%3D 19431184
208. RT Bronson LR Donahue KR Johnson A Tanner PW Lane JR Faust 1998 Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9 Am J Med Genet 77 289 297 1:STN:280:DyaK1c3mtFeltw%3D%3D 9600738 (Pubitemid 28208721)
209. L Lonka A Kyttala S Ranta A Jalanko AE Lehesjoki 2000 The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum Hum Mol Genet 9 1691 1697 1:CAS:528:DC%2BD3cXkvFCkuro%3D 10861296 (Pubitemid 30427006)
210. L Lonka T Salonen E Siintola O Kopra AE Lehesjoki A Jalanko 2004 Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells J Neurosci Res 76 862 871 1:CAS:528:DC%2BD2cXkvVCnsbo%3D 15160397 (Pubitemid 38720692)
211. NP D'Mello AM Childress DS Franklin SP Kale C Pinswasdi SM Jazwinski 1994 Cloning and characterization of LAG1, a longevity-assurance gene in yeast J Biol Chem 269 15451 15459 8195187 (Pubitemid 24202126)
212. RS Hegde S Voigt TA Rapoport VR Lingappa 1998 TRAM regulates the exposure of nascent secretory proteins to the cytosol during translocation into the endoplasmic reticulum Cell 92 621 631 1:CAS:528:DyaK1cXhvVWqt74%3D 9506517 (Pubitemid 28141511)
213. E Winter CP Ponting 2002 TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? Trends Biochem Sci 27 381 383 1:CAS:528: DC%2BD38XlvVSmt7w%3D 12151215 (Pubitemid 34874742)
214. M Hermansson R Kakela M Berghall AE Lehesjoki P Somerharju U Lahtinen 2005 Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study J Neurochem 95 609 617 1:CAS:528:DC%2BD2MXht1SitbrJ 16086686 (Pubitemid 41567154)
215. JE Vance SJ Stone JR Faust 1997 Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis Biochim Biophys Acta 1344 286 299 1:CAS:528:DyaK2sXmsVWmuw%3D%3D 9059519 (Pubitemid 27079795)
216. NA Zhong DN Moroziewicz W Ju KE Wisniewski A Jurkiewicz WT Brown 2000 CLN-encoded proteins do not interact with each other Neurogenetics 3 41 44 1:CAS:528:DC%2BD3MXjvVOisb8%3D 11085596
217. DA Persaud-Sawin T Mousallem C Wang A Zucker E Kominami RM Boustany 2007 Neuronal ceroid lipofuscinosis: a common pathway? Pediatr Res 61 146 152 17237713 (Pubitemid 46146870)
218. C von Schantz J Saharinen O Kopra JD Cooper M Gentile I Hovatta L Peltonen A Jalanko 2008 Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases BMC Genomics 9 146
219. L Lonka A Aalto O Kopra M Kuronen Z Kokaia M Saarma AE Lehesjoki 2005 The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy BMC Neurosci 6 27 15826318
220. -/-. Exp Cell Res (submitted)