메뉴 건너뛰기




Volumn 9, Issue 11, 2000, Pages 1691-1697

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY; CEROID; COMPLEMENTARY DNA; MEMBRANE PROTEIN;

EID: 18844471093     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.11.1691     Document Type: Article
Times cited : (96)

References (39)
  • 1
    • 0023917534 scopus 로고    scopus 로고
    • Neuronal ceroid-lipofuscinosis in childhood
    • Santavuori, P. (1998) Neuronal ceroid-lipofuscinosis in childhood. Brain Dev., 10, 80-83.
    • (1998) Brain Dev. , vol.10 , pp. 80-83
    • Santavuori, P.1
  • 2
    • 0032427786 scopus 로고    scopus 로고
    • Batten disease: Four genes and still counting
    • Mole, S.E. (1998) Batten disease: four genes and still counting. Neurobiol. Dis., 5, 287-303.
    • (1998) Neurobiol. Dis. , vol.5 , pp. 287-303
    • Mole, S.E.1
  • 3
    • 0029147298 scopus 로고
    • Isolation of a novel gene underlying Batten disease, CLN3
    • The international Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease, CLN3, Cell, 82, 949-957.
    • (1995) Cell , vol.82 , pp. 949-957
  • 5
    • 0030866233 scopus 로고    scopus 로고
    • Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
    • Sleat, D.E., Donnelly, R.J., Lackland, H., Liu, C.G., Sohar, I., Putlarkat, R.K. and Lobel, P. (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science, 277, 1802-1805.
    • (1997) Science , vol.277 , pp. 1802-1805
    • Sleat, D.E.1    Donnelly, R.J.2    Lackland, H.3    Liu, C.G.4    Sohar, I.5    Putlarkat, R.K.6    Lobel, P.7
  • 6
    • 0031803649 scopus 로고    scopus 로고
    • CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
    • Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E.S. and Peltonen, L. (1998) CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genet., 19, 286-288.
    • (1998) Nature Genet. , vol.19 , pp. 286-288
    • Savukoski, M.1    Klockars, T.2    Holmberg, V.3    Santavuori, P.4    Lander, E.S.5    Peltonen, L.6
  • 9
    • 0032838468 scopus 로고    scopus 로고
    • Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5
    • Mole, S.E., Mitchison, H.M. and Munroe, P.B. (1999) Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. Hum. Mutat., 14, 199-215.
    • (1999) Hum. Mutat. , vol.14 , pp. 199-215
    • Mole, S.E.1    Mitchison, H.M.2    Munroe, P.B.3
  • 11
    • 0028345785 scopus 로고
    • Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration
    • Hirvasniemi, A., Lang, H., Lehesjoki, A.-E. and Leisti, J. (1994) Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. J. Med. Genet., 31, 177-182.
    • (1994) J. Med. Genet. , vol.31 , pp. 177-182
    • Hirvasniemi, A.1    Lang, H.2    Lehesjoki, A.-E.3    Leisti, J.4
  • 12
    • 0027453099 scopus 로고
    • Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)
    • Bronson, R.T., Lake, B.D., Cook, S., Taylor, S. and Davisson, M.T. (1993) Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann. Neurol., 33, 381-385.
    • (1993) Ann. Neurol. , vol.33 , pp. 381-385
    • Bronson, R.T.1    Lake, B.D.2    Cook, S.3    Taylor, S.4    Davisson, M.T.5
  • 13
    • 0022976796 scopus 로고
    • Autosomal dominance in a late-onset motor neuron disease in the mouse
    • Messer, A. and Flaherty, L. (1986) Autosomal dominance in a late-onset motor neuron disease in the mouse. J. Neurogenet., 3, 345-355.
    • (1986) J. Neurogenet. , vol.3 , pp. 345-355
    • Messer, A.1    Flaherty, L.2
  • 15
    • 0025184422 scopus 로고
    • Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum
    • Jackson, M.R., Nilsson, T. and Peterson, P.A. (1990) Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum. EMBO J., 9, 3153-3162.
    • (1990) EMBO J. , vol.9 , pp. 3153-3162
    • Jackson, M.R.1    Nilsson, T.2    Peterson, P.A.3
  • 16
    • 0028181745 scopus 로고
    • Coatomer interaction with di-lysine endoplasmic reticulum retention motifs
    • Cosson, P. and Letourneur, F. (1994) Coatomer interaction with di-lysine endoplasmic reticulum retention motifs. Science, 263, 1629-1631.
    • (1994) Science , vol.263 , pp. 1629-1631
    • Cosson, P.1    Letourneur, F.2
  • 17
    • 0029843717 scopus 로고    scopus 로고
    • Human palmitoyl protein thioesterase: Evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis
    • Hellsten, E., Vesa, J., Olkkonen, V.M., Jalanko, A. and Peltonen, L. (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.
    • (1996) EMBO J. , vol.15 , pp. 5240-5245
    • Hellsten, E.1    Vesa, J.2    Olkkonen, V.M.3    Jalanko, A.4    Peltonen, L.5
  • 18
    • 0030009044 scopus 로고    scopus 로고
    • Lysosomal targeting of palmitoyl-protein thioesterase
    • Verkruyse, L.A. and Hofmann, S.L. (1996) Lysosomal targeting of palmitoyl-protein thioesterase. J. Biol. Chem., 271, 15831-15836.
    • (1996) J. Biol. Chem. , vol.271 , pp. 15831-15836
    • Verkruyse, L.A.1    Hofmann, S.L.2
  • 19
    • 0029788513 scopus 로고    scopus 로고
    • Lipid thioesters derived from acylated proteins accumulate in infantile neuronal lipofuscinosis: Correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase
    • Lu, J.Y., Verkruyse, L.A. and Hofmann, S.L. (1996) Lipid thioesters derived from acylated proteins accumulate in infantile neuronal lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. Proc. Natl. Acad. Sci. USA, 93, 10046-10050.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 10046-10050
    • Lu, J.Y.1    Verkruyse, L.A.2    Hofmann, S.L.3
  • 20
    • 0033052570 scopus 로고    scopus 로고
    • Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I
    • Vines, D.J. and Warburton, M.J. (1999) Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I. FEBS Lett., 433, 131-135.
    • (1999) FEBS Lett. , vol.433 , pp. 131-135
    • Vines, D.J.1    Warburton, M.J.2
  • 21
    • 0032897884 scopus 로고    scopus 로고
    • Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis
    • Rawlings, N.D. and Barrett, A.J. (1999) Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta, 2, 496-500.
    • (1999) Biochim. Biophys. Acta , vol.2 , pp. 496-500
    • Rawlings, N.D.1    Barrett, A.J.2
  • 22
    • 0344867852 scopus 로고    scopus 로고
    • Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
    • Järvelä, I., Lehtovirta, M., Tikkanen, R., Kyttälä, A. and Jalanko, A. (1999) Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Hum. Mol. Genet., 8, 1091-1098.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1091-1098
    • Järvelä, I.1    Lehtovirta, M.2    Tikkanen, R.3    Kyttälä, A.4    Jalanko, A.5
  • 23
    • 0033963467 scopus 로고    scopus 로고
    • Localization and processing of CLN3, the protein associated to Batten disease: Where is it and what does it do
    • Pearce, D.A. (2000) Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do? J. Neurosci. Res., 1, 19-23.
    • (2000) J. Neurosci. Res. , vol.1 , pp. 19-23
    • Pearce, D.A.1
  • 25
    • 0032516855 scopus 로고    scopus 로고
    • COPII and selective export from the endoplasmic reticulum
    • Barlowe C. (1998) COPII and selective export from the endoplasmic reticulum. Biochim. Biophys. Acta, 1404, 67-76.
    • (1998) Biochim. Biophys. Acta , vol.1404 , pp. 67-76
    • Barlowe, C.1
  • 26
    • 0030760897 scopus 로고    scopus 로고
    • Coatomer (COPI)-coated vesicles: Role in intracellular transport and protein sorting
    • Cosson, P. and Letourneur, F. (1997) Coatomer (COPI)-coated vesicles: role in intracellular transport and protein sorting. Curr. Opin. Cell Biol., 9, 484-487.
    • (1997) Curr. Opin. Cell Biol. , vol.9 , pp. 484-487
    • Cosson, P.1    Letourneur, F.2
  • 28
    • 0033591357 scopus 로고    scopus 로고
    • Protein targeting to endoplasmic reticulum by dilysine signals involves direct retention in addition to retrieval
    • Andersson, H., Kappeler, F. and Hauri, H.P. (1999) Protein targeting to endoplasmic reticulum by dilysine signals involves direct retention in addition to retrieval. J. Biol. Chem., 274, 15080-15084.
    • (1999) J. Biol. Chem. , vol.274 , pp. 15080-15084
    • Andersson, H.1    Kappeler, F.2    Hauri, H.P.3
  • 35
    • 0033958665 scopus 로고    scopus 로고
    • Alzheimer's presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitor
    • Scheper, W., Zwart, R., van der Sluijs, P., Annaert, W., van Gool, W.A. and Baas, F. (2000) Alzheimer's presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitor. Hum. Mol. Genet., 9, 303-310.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 303-310
    • Scheper, W.1    Zwart, R.2    Van Der Sluijs, P.3    Annaert, W.4    Van Gool, W.A.5    Baas, F.6
  • 36
    • 0345465663 scopus 로고    scopus 로고
    • Integration of endoplasmic reticulum signaling in health and disease
    • Aridor, M. and Balch, W.E. (1999) Integration of endoplasmic reticulum signaling in health and disease. Nature Med., 5, 745-751.
    • (1999) Nature Med. , vol.5 , pp. 745-751
    • Aridor, M.1    Balch, W.E.2
  • 37
    • 0025268284 scopus 로고
    • SVpoly: A versatile mammalian expression vector
    • Stacey, A. and Schnieke, A. (1990) SVpoly: a versatile mammalian expression vector. Nucleic Acids Res., 18, 2829.
    • (1990) Nucleic Acids Res. , vol.18 , pp. 2829
    • Stacey, A.1    Schnieke, A.2
  • 38
    • 0019884568 scopus 로고
    • Glucocorticoids regulate expression of dihydrofolate reductase cDNA in mouse mammary tumor virus cimeric plasmids
    • Lee, F., Mulligan, R., Berg, P. and Ringold, G. (1981) Glucocorticoids regulate expression of dihydrofolate reductase cDNA in mouse mammary tumor virus cimeric plasmids. Nature, 294, 228-232.
    • (1981) Nature , vol.294 , pp. 228-232
    • Lee, F.1    Mulligan, R.2    Berg, P.3    Ringold, G.4
  • 39
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, U.K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.