메뉴 건너뛰기




Volumn 335, Issue 1-2, 2010, Pages 273-282

Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients

Author keywords

Endocytic compartment; GM2 storage; Lysosomal storage disease; Sandhoff disease

Indexed keywords

ARTICLE; CELL METABOLISM; CELL ORGANELLE; CELL VACUOLE; CONTROLLED STUDY; ENDOCYTOSIS; ENDOSOME; FIBROBLAST; HUMAN; HUMAN CELL; LYSOSOME; PATHOGENESIS; SANDHOFF DISEASE; SIGNAL TRANSDUCTION;

EID: 75949093765     PISSN: 03008177     EISSN: 15734919     Source Type: Journal    
DOI: 10.1007/s11010-009-0277-0     Document Type: Article
Times cited : (15)

References (38)
  • 1
    • 0021357886 scopus 로고
    • Down regulation of epidermal growth factor receptors: Direct demonstration of receptor degradation in human fibroblasts
    • DOI 10.1083/jcb.98.3.1048
    • CM Stoscheck G Carpenter 1984 Down regulation of epidermal growth factor receptors: direct demonstration of receptor degradation in human fibroblasts J Cell Biol 98 1048 1053 10.1083/jcb.98.3.1048 1:CAS:528:DyaL2cXhs12jsbo%3D 6321514 (Pubitemid 14166537)
    • (1984) Journal of Cell Biology , vol.98 , Issue.3 , pp. 1048-1053
    • Stoscheck, C.M.1    Carpenter, G.2
  • 3
    • 0036481624 scopus 로고    scopus 로고
    • Secretory lysosomes
    • 10.1038/nrm732 1:CAS:528:DC%2BD38XhsFSrs7w%3D 11836514
    • EJ Blott GM Griffiths 2002 Secretory lysosomes Nat Rev Mol Cell Biol 3 122 131 10.1038/nrm732 1:CAS:528:DC%2BD38XhsFSrs7w%3D 11836514
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 122-131
    • Blott, E.J.1    Griffiths, G.M.2
  • 4
    • 0035958557 scopus 로고    scopus 로고
    • 2+-regulated exocytosis of lysosomes
    • DOI 10.1016/S0092-8674(01)00421-4
    • A Reddy EV Caler NW Andrews 2001 Plasma membrane repair is mediated by Ca2+-regulated exocytosis of lysosomes Cell 106 157 169 10.1016/S0092-8674(01) 00421-4 1:CAS:528:DC%2BD3MXlvVClsLw%3D 11511344 (Pubitemid 32772627)
    • (2001) Cell , vol.106 , Issue.2 , pp. 157-169
    • Reddy, A.1    Caler, E.V.2    Andrews, N.W.3
  • 5
    • 0033869715 scopus 로고    scopus 로고
    • Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer's disease and Down syndrome: Differential effects of APOE genotype and presenilin mutations
    • 1:CAS:528:DC%2BD3cXlsVGmtLw%3D 10880397
    • AM Cataldo CM Peterhoff JC Troncoso, et al. 2000 Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer's disease and Down syndrome: differential effects of APOE genotype and presenilin mutations Am J Pathol 157 277 286 1:CAS:528:DC%2BD3cXlsVGmtLw%3D 10880397
    • (2000) Am J Pathol , vol.157 , pp. 277-286
    • Cataldo, A.M.1    Peterhoff, C.M.2    Troncoso, J.C.3
  • 6
    • 0000857916 scopus 로고    scopus 로고
    • Lysosomal disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle DD (eds) 8th edn McGraw-Hill, New York
    • Scriver CR, Beaudet AL, Sly WS, Valle DD (eds) (2001) Lysosomal disorders. The metabolic and molecular bases of inherited disease, 8th edn, vol III. McGraw-Hill, New York, pp 3371-3894
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , vol.3 , pp. 3371-3894
  • 7
    • 25144442267 scopus 로고    scopus 로고
    • Storage solutions: Treating lysosomal disorders of the brain
    • 16049428
    • M Jeyakumar RA Dwek TD Butters FM Platt 2005 Storage solutions: treating lysosomal disorders of the brain Nat Rev Neurosci 6 713 725 16049428
    • (2005) Nat Rev Neurosci , vol.6 , pp. 713-725
    • Jeyakumar, M.1    Dwek, R.A.2    Butters, T.D.3    Platt, F.M.4
  • 8
    • 2942652829 scopus 로고    scopus 로고
    • The pathogenesis of glycosphingolipid storage disorders
    • DOI 10.1016/j.semcdb.2004.03.003, PII S1084952104000333
    • L Ginzburg Y Kacher AH Futerman 2004 The pathogenesis of glycosphingolipid storage disorder Semin Cell Dev Bio 15 417 431 10.1016/j.semcdb.2004.03.003 1:CAS:528:DC%2BD2cXltVCisLg%3D (Pubitemid 38781904)
    • (2004) Seminars in Cell and Developmental Biology , vol.15 , Issue.4 , pp. 417-431
    • Ginzburg, L.1    Kacher, Y.2    Futerman, A.H.3
  • 9
    • 0036830228 scopus 로고    scopus 로고
    • The neuropathogenic contributions of lysosomal dysfunction
    • DOI 10.1046/j.1471-4159.2002.01192.x
    • BA Bahr J Bendiske 2002 The neuropathogenic contributions of lysosomal dysfunction J Neurochem 83 481 489 10.1046/j.1471-4159.2002.01192.x 1:CAS:528:DC%2BD38Xos1SjtLg%3D 12390510 (Pubitemid 35231802)
    • (2002) Journal of Neurochemistry , vol.83 , Issue.3 , pp. 481-489
    • Bahr, B.A.1    Bendiske, J.2
  • 10
    • 0026276092 scopus 로고
    • Estimation and comparison of lysosomal and cytoplasmic pH of human fibroblasts from healthy donors and patients with lysosomal storage diseases
    • 1:STN:280:DyaK387ot1Wltw%3D%3D 1797144
    • TS Ivleva TA Ogloblina LL Litinskaya GY Wiederschain 1991 Estimation and comparison of lysosomal and cytoplasmic pH of human fibroblasts from healthy donors and patients with lysosomal storage diseases Biomed Sci 2 398 402 1:STN:280:DyaK387ot1Wltw%3D%3D 1797144
    • (1991) Biomed Sci , vol.2 , pp. 398-402
    • Ivleva, T.S.1    Ogloblina, T.A.2    Litinskaya, L.L.3    Wiederschain, G.Y.4
  • 11
    • 0032965433 scopus 로고    scopus 로고
    • Elevated lysosomal pH in mucolipidosis type IV cells
    • DOI 10.1016/S0009-8981(98)00183-1, PII S0009898198001831
    • G Bach CS Chen RE Pagano 1999 Elevated lysosomal pH in Mucolipidosis type IV cells Clin Chim Acta 280 173 179 10.1016/S0009-8981(98)00183-1 1:CAS:528:DyaK1MXnslyktw%3D%3D 10090534 (Pubitemid 29094592)
    • (1999) Clinica Chimica Acta , vol.280 , Issue.1-2 , pp. 173-179
    • Bach, G.1    Chen, C.-S.2    Pagano, R.E.3
  • 12
    • 0033516559 scopus 로고    scopus 로고
    • Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes. Impaired proteolytic processing of cathepsin B in fibroblasts of patients with lysosomal sialic acid storage disease
    • DOI 10.1074/jbc.274.27.19063
    • JA Schmid L Mach E Paschke J Glössl 1999 Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes J Biol Chem 274 19063 19071 10.1074/jbc.274.27.19063 1:CAS:528:DyaK1MXksVWlsbc%3D 10383408 (Pubitemid 29314102)
    • (1999) Journal of Biological Chemistry , vol.274 , Issue.27 , pp. 19063-19071
    • Schmid, J.A.1    Mach, L.2    Paschke, E.3    Glossl, J.4
  • 14
    • 0037762569 scopus 로고    scopus 로고
    • Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases
    • DOI 10.1098/rstb.2003.1275
    • RE Pagano 2003 Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases Philos Trans R Soc Lond B Biol Sci 358 885 891 10.1098/rstb.2003.1275 1:CAS:528:DC%2BD3sXlsFeqsr4%3D 12803922 Review (Pubitemid 36639713)
    • (2003) Philosophical Transactions of the Royal Society B: Biological Sciences , vol.358 , Issue.1433 , pp. 885-891
    • Pagano, R.E.1
  • 15
    • 2942689642 scopus 로고    scopus 로고
    • Glycosphingolipids in endocytic membrane transport
    • DOI 10.1016/j.semcdb.2004.03.004, PII S1084952104000345
    • DJ Sillence FM Platt 2004 Glycosphingolipids in endocytic membrane transport Semin Cell Dev Biol 15 409 416 10.1016/j.semcdb.2004.03.004 1:CAS:528:DC%2BD2cXltVCisLs%3D 15207831 (Pubitemid 38781903)
    • (2004) Seminars in Cell and Developmental Biology , vol.15 , Issue.4 , pp. 409-416
    • Sillence, D.J.1    Platt, F.M.2
  • 18
    • 0032850439 scopus 로고    scopus 로고
    • Biochemical consequences of mutations causing the GM2 gangliosidoses
    • 1:CAS:528:DyaK1MXntlOhurg%3D 10571007
    • DJ Mahuran 1999 Biochemical consequences of mutations causing the GM2 gangliosidoses Biochim Biophys Acta 1455 105 138 1:CAS:528:DyaK1MXntlOhurg%3D 10571007
    • (1999) Biochim Biophys Acta , vol.1455 , pp. 105-138
    • Mahuran, D.J.1
  • 20
    • 58149139511 scopus 로고    scopus 로고
    • Identification and characterization of mature beta-hexosaminidases associated with human placenta lysosomal membrane
    • 1:CAS:528:DC%2BD1cXhtV2js7fE 18588514
    • A Magini S Mencarelli B Tancini, et al. 2008 Identification and characterization of mature beta-hexosaminidases associated with human placenta lysosomal membrane Biosci Rep 28 229 237 1:CAS:528:DC%2BD1cXhtV2js7fE 18588514
    • (2008) Biosci Rep , vol.28 , pp. 229-237
    • Magini, A.1    Mencarelli, S.2    Tancini, B.3
  • 22
    • 0031831404 scopus 로고    scopus 로고
    • Fibroblast models of neurological disorders: Fluorescence measurement studies
    • DOI 10.1016/S0165-6147(98)01202-4
    • GP Connolly 1998 Fibroblast models of neurological disorders: fluorescence measurement studies Trends Pharmacol Sci 19 171 177 10.1016/S0165-6147(98)01202-4 1:CAS:528:DyaK1cXjsFygt7w%3D 9652189 (Pubitemid 28255403)
    • (1998) Trends in Pharmacological Sciences , vol.19 , Issue.5 , pp. 171-177
    • Connolly, G.P.1
  • 23
    • 58649092359 scopus 로고    scopus 로고
    • Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: Identification of six novel alleles
    • Zampieri S, Filocamo M, Buratti E et al (2009) Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. Neurogenetics 10:49-58
    • (2009) Neurogenetics , vol.10 , pp. 49-58
    • Zampieri, S.1    Filocamo, M.2    Buratti, E.3
  • 24
    • 0034280104 scopus 로고    scopus 로고
    • Procathepsin L self-association as a mechanism for selective secretion
    • 10.1034/j.1600-0854.2000.010905.x 1:CAS:528:DC%2BD3cXmsFWmurc%3D 11208160
    • S Yeyeodu K Ahn V Madden, et al. 2000 Procathepsin L self-association as a mechanism for selective secretion Traffic 1 724 737 10.1034/j.1600-0854.2000. 010905.x 1:CAS:528:DC%2BD3cXmsFWmurc%3D 11208160
    • (2000) Traffic , vol.1 , pp. 724-737
    • Yeyeodu, S.1    Ahn, K.2    Madden, V.3
  • 25
    • 0014949207 scopus 로고
    • Cleavage of structural protein during the assembly of the head of bacteriophage T4
    • 10.1038/227680a0 1:CAS:528:DC%2BD3MXlsFags7s%3D 5432063
    • UK Laemmli 1970 Cleavage of structural protein during the assembly of the head of bacteriophage T4 Nature 227 680 685 10.1038/227680a0 1:CAS:528:DC%2BD3MXlsFags7s%3D 5432063
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, U.K.1
  • 26
    • 0025306180 scopus 로고
    • An enzyme with properties similar to those of beta N-acetylhexosaminidase S is expressed in the promyelocytic cell line HL-60
    • 1:CAS:528:DyaK3cXhvFKjt7c%3D 2139328
    • C Emiliani T Beccari A Tabilio, et al. 1990 An enzyme with properties similar to those of beta N-acetylhexosaminidase S is expressed in the promyelocytic cell line HL-60 Biochem J 267 111 117 1:CAS:528:DyaK3cXhvFKjt7c%3D 2139328
    • (1990) Biochem J , vol.267 , pp. 111-117
    • Emiliani, C.1    Beccari, T.2    Tabilio, A.3
  • 27
    • 0017184389 scopus 로고
    • A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
    • 10.1016/0003-2697(76)90527-3 1:CAS:528:DyaE28XksVehtrY%3D 942051
    • MM Bradford 1976 A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding Anal Biochem 72 248 254 10.1016/0003-2697(76)90527-3 1:CAS:528: DyaE28XksVehtrY%3D 942051
    • (1976) Anal Biochem , vol.72 , pp. 248-254
    • Bradford, M.M.1
  • 28
    • 2642714342 scopus 로고
    • Fluorescence probe measurement of the intralysosomal pH in living cells and the perturbation of pH by various agents
    • 10.1073/pnas.75.7.3327 1:CAS:528:DyaE1cXlvFegsbY%3D 28524
    • S Ohkuma B Poole 1978 Fluorescence probe measurement of the intralysosomal pH in living cells and the perturbation of pH by various agents Proc Natl Acad Sci USA 75 3327 3331 10.1073/pnas.75.7.3327 1:CAS:528: DyaE1cXlvFegsbY%3D 28524
    • (1978) Proc Natl Acad Sci USA , vol.75 , pp. 3327-3331
    • Ohkuma, S.1    Poole, B.2
  • 29
    • 75949120446 scopus 로고
    • Keesey J (ed) Biochemica information, 1st edn Indianapolis
    • Keesey J (ed) (1987) Biochemica information, 1st edn. Boehringer Mannheim Biochemicals, Indianapolis, pp 19-20
    • (1987) Boehringer Mannheim Biochemicals , pp. 19-20
  • 30
    • 0000735565 scopus 로고
    • Peroxidase
    • H.W. Bergmeyer (eds). 3rd edn. Verlag-Chemie Weinheim, Germany
    • Putter J, Becker R (1983) Peroxidase. In: Bergmeyer HW (ed) Methods of enzymatic analysis, vol III, 3rd edn. Verlag-Chemie, Weinheim, Germany, pp 286-293
    • (1983) Methods of Enzymatic Analysis , vol.3 , pp. 286-293
    • Putter, J.1    Becker, R.2
  • 32
    • 0035257013 scopus 로고    scopus 로고
    • Rab proteins as membrane organizers
    • DOI 10.1038/35052055
    • M Zerial H McBride 2001 Rab proteins as membrane organizers Nat Rev Mol Cell Biol 2 107 117 10.1038/35052055 1:CAS:528:DC%2BD3MXivVSitL8%3D 11252952 (Pubitemid 33674039)
    • (2001) Nature Reviews Molecular Cell Biology , vol.2 , Issue.2 , pp. 107-117
    • Zerial, M.1    McBride, H.2
  • 33
    • 0037334339 scopus 로고    scopus 로고
    • At the acidic edge: Emerging functions for lysosomal membrane proteins
    • DOI 10.1016/S0962-8924(03)00005-9
    • EL Eskelinen Y Tanaka P Saftig 2003 At the acidic edge: emerging function for lysosomal membrane proteins Trends Cell Biol 13 137 145 10.1016/S0962-8924(03)00005-9 1:CAS:528:DC%2BD3sXhs1WqsLY%3D 12628346 (Pubitemid 36293786)
    • (2003) Trends in Cell Biology , vol.13 , Issue.3 , pp. 137-145
    • Eskelinen, E.-L.1    Tanaka, Y.2    Saftig, P.3
  • 34
    • 0020172109 scopus 로고
    • Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man
    • 10.1073/pnas.79.15.4535 6812049
    • A D'Azzo A Hoogeveen AJ Reuser D Robinson H Galjaard 1982 Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man Proc Natl Acad Sci USA 79 4535 4539 10.1073/pnas.79.15.4535 6812049
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 4535-4539
    • D'Azzo, A.1    Hoogeveen, A.2    Reuser, A.J.3    Robinson, D.4    Galjaard, H.5
  • 35
    • 0029030937 scopus 로고
    • EEA1, an early endosome-associated protein
    • 10.1074/jbc.270.22.13503 1:CAS:528:DyaK2MXmtV2hsLw%3D 7768953
    • F-T Mu 1995 EEA1, an early endosome-associated protein J Biol Chem 270 13503 13511 10.1074/jbc.270.22.13503 1:CAS:528:DyaK2MXmtV2hsLw%3D 7768953
    • (1995) J Biol Chem , vol.270 , pp. 13503-13511
    • Mu, F.-T.1
  • 37
    • 0035694168 scopus 로고    scopus 로고
    • Lysosome proteins are redistributed during expression of a GTP-hydrolysis-defective rab5a
    • 1:CAS:528:DC%2BD38XnvFKlug%3D%3D 11792815
    • JL Rosenfeld RH Moore KP Zimmer, et al. 2001 Lysosome proteins are redistributed during expression of a GTP-hydrolysis-defective rab5a J Cell Sci 114 4499 4508 1:CAS:528:DC%2BD38XnvFKlug%3D%3D 11792815
    • (2001) J Cell Sci , vol.114 , pp. 4499-4508
    • Rosenfeld, J.L.1    Moore, R.H.2    Zimmer, K.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.