메뉴 건너뛰기




Volumn 18, Issue 9, 2003, Pages 591-594

Metachromatic leukodystrophy: Recent research developments

Author keywords

[No Author keywords available]

Indexed keywords

ARYLSULFATASE; LYSOSOME ENZYME; MYELIN; MYELIN PROTEIN; PROTEOLIPID PROTEIN; SULFATIDE;

EID: 0141997305     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738030180090301     Document Type: Article
Times cited : (54)

References (22)
  • 3
    • 0026085978 scopus 로고
    • Molecular basis of different forms of metachromatic leukodystrophy
    • Polten A, Fluharty AL, Fluharty CB, et al: Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 1991;324:18-22.
    • (1991) N. Engl. J. Med. , vol.324 , pp. 18-22
    • Polten, A.1    Fluharty, A.L.2    Fluharty, C.B.3
  • 4
    • 0027417907 scopus 로고
    • Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain
    • Barth ML, Fensom A, Harris A: Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Hum Genet 1993;91:73-77.
    • (1993) Hum. Genet. , vol.91 , pp. 73-77
    • Barth, M.L.1    Fensom, A.2    Harris, A.3
  • 5
    • 0026353838 scopus 로고
    • Two new arylsulfatase A mutations in a juvenile metachromatic leukodystrophy patient
    • Fluharty AL, Fluharty CB, von Figura K, Gieselmann V: Two new arylsulfatase A mutations in a juvenile metachromatic leukodystrophy patient. Am J Hum Genet 1991;49:1340-1350.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 1340-1350
    • Fluharty, A.L.1    Fluharty, C.B.2    von Figura, K.3    Gieselmann, V.4
  • 6
    • 0030460131 scopus 로고    scopus 로고
    • Late juvenile metachromatic leukodystrophy in three patients with a similar clinical course and an identical mutation on one allele
    • Tylky-Szymanska A, Berger J, Loschl B, et al: Late juvenile metachromatic leukodystrophy in three patients with a similar clinical course and an identical mutation on one allele. Clin Genet 1996;50:281-292.
    • (1996) Clin. Genet. , vol.50 , pp. 281-292
    • Tylky-Szymanska, A.1    Berger, J.2    Loschl, B.3
  • 7
    • 0024409026 scopus 로고
    • Arylsulfatase A pseudodeficiency: Loss of a polyadenylylation signal and a N-glycosylation site
    • Gieselmann V, Polten A, Kreysing J, von Figura K: Arylsulfatase A pseudodeficiency: Loss of a polyadenylylation signal and a N-glycosylation site. Proc Natl Acad Sci U S A 1989;86:9436-9440.
    • (1989) Proc. Natl. Acad. Sci. U S A , vol.86 , pp. 9436-9440
    • Gieselmann, V.1    Polten, A.2    Kreysing, J.3    von Figura, K.4
  • 8
    • 0023156645 scopus 로고
    • Pseudodeficiency of arylsulfatase A: A counseling dilemma
    • Baldinger S, Pierpont ME, Wenger DA: Pseudodeficiency of arylsulfatase A: A counseling dilemma. Clin Genet 1987;31:70-76.
    • (1987) Clin. Genet. , vol.31 , pp. 70-76
    • Baldinger, S.1    Pierpont, M.E.2    Wenger, D.A.3
  • 9
    • 10544235699 scopus 로고    scopus 로고
    • Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy
    • Hess B, Saftig P, Hartmann D,et al: Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci U S A 1996;93:14821-14826.
    • (1996) Proc. Natl. Acad. Sci. U S A , vol.93 , pp. 14821-14826
    • Hess, B.1    Saftig, P.2    Hartmann, D.3
  • 10
    • 0032729255 scopus 로고    scopus 로고
    • Decline in brain stem auditory evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase deficient mice
    • D'Hooge R, Coenen R, Gieselmann V, et al: Decline in brain stem auditory evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase deficient mice. Brain Res 1999;847:352-356.
    • (1999) Brain Res. , vol.847 , pp. 352-356
    • D'Hooge, R.1    Coenen, R.2    Gieselmann, V.3
  • 11
    • 0032840656 scopus 로고    scopus 로고
    • Neuromotor alterations and cerebellar deficits in aged arylsulfatase A deficient mice
    • D'Hooge R, Hartmann D, Manil J, et al: Neuromotor alterations and cerebellar deficits in aged arylsulfatase A deficient mice. Neurosci Lett 1999;273:93-95.
    • (1999) Neurosci. Lett. , vol.273 , pp. 93-95
    • D'Hooge, R.1    Hartmann, D.2    Manil, J.3
  • 12
    • 0035099437 scopus 로고    scopus 로고
    • In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: Correction of neuropathology and protection against learning impairments in affected mice
    • Consiglio A, Quattrini A, Martino S, et al: In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: Correction of neuropathology and protection against learning impairments in affected mice. Nat Med 2001;7:310-316.
    • (2001) Nat. Med. , vol.7 , pp. 310-316
    • Consiglio, A.1    Quattrini, A.2    Martino, S.3
  • 13
    • 0026637316 scopus 로고
    • Structure and function of the mannose-6-phosphate/insulin like growth factor II receptors
    • Kornfeld S: Structure and function of the mannose-6-phosphate/insulin like growth factor II receptors. Annu Rev Biochem 1992;61:307-330.
    • (1992) Annu. Rev. Biochem. , vol.61 , pp. 307-330
    • Kornfeld, S.1
  • 14
    • 0030787644 scopus 로고    scopus 로고
    • Kinetics of central nervous system microglial and macrophage engraftment: Analysis using a transgenic bone marrow transplantation model
    • Kennedy DW, Abkowitz JL: Kinetics of central nervous system microglial and macrophage engraftment: Analysis using a transgenic bone marrow transplantation model. Blood 1997;90:986-993.
    • (1997) Blood , vol.90 , pp. 986-993
    • Kennedy, D.W.1    Abkowitz, J.L.2
  • 15
    • 0033943326 scopus 로고    scopus 로고
    • Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector
    • Matzner U, Harzer K, Learish RD, et al: Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector. Gene Ther 2000;14:1250-1257.
    • (2000) Gene Ther. , vol.14 , pp. 1250-1257
    • Matzner, U.1    Harzer, K.2    Learish, R.D.3
  • 16
    • 85047696614 scopus 로고    scopus 로고
    • Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells
    • Matzner U, Habetha M, Gieselmann V: Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells. Gene Ther 2000;7:805-812.
    • (2000) Gene Ther. , vol.7 , pp. 805-812
    • Matzner, U.1    Habetha, M.2    Gieselmann, V.3
  • 17
    • 0030949124 scopus 로고    scopus 로고
    • Functional rafts in cell membranes
    • Simons K, Ikonen E: Functional rafts in cell membranes. Nature 1997;387:569-572.
    • (1997) Nature , vol.387 , pp. 569-572
    • Simons, K.1    Ikonen, E.2
  • 19
    • 0344053287 scopus 로고    scopus 로고
    • Oligodendrocytes direct glycosylphosphatidyl inositol anchored proteins to the myelin sheath in glycosphingolipid-rich complexes
    • Kramer EM, Koch T, Niehaus A, Trotter J: Oligodendrocytes direct glycosylphosphatidyl inositol anchored proteins to the myelin sheath in glycosphingolipid-rich complexes. J Biol Chem 1997;272: 8937-8945.
    • (1997) J. Biol. Chem. , vol.272 , pp. 8937-8945
    • Kramer, E.M.1    Koch, T.2    Niehaus, A.3    Trotter, J.4
  • 20
    • 0038933866 scopus 로고    scopus 로고
    • Compartmentation of Fyn kinase with glycosylphosphatidyl-inositol-anchored molecules in oligodendrocytes facilitates kinase activation during myelination
    • Kramer EM, Klein C, Koch T, et al: Compartmentation of Fyn kinase with glycosylphosphatidyl-inositol-anchored molecules in oligodendrocytes facilitates kinase activation during myelination. J Biol Chem 1999;274:29042-29049.
    • (1999) J. Biol. Chem. , vol.274 , pp. 29042-29049
    • Kramer, E.M.1    Klein, C.2    Koch, T.3
  • 21
    • 0033964123 scopus 로고    scopus 로고
    • MAL, a proteolipid in glycosphingolipid enriched domains: Functional implications in myelin and beyond
    • Frank M: MAL, a proteolipid in glycosphingolipid enriched domains: Functional implications in myelin and beyond. Prog Neurobiol 2000;60:531-544.
    • (2000) Prog. Neurobiol. , vol.60 , pp. 531-544
    • Frank, M.1
  • 22
    • 0032543261 scopus 로고    scopus 로고
    • Late-onset neurodegeneration in mice with increased dosage of the proteo protein gene
    • Anderson TJ, Schneider A, Barrie JA, et al: Late-onset neurodegeneration in mice with increased dosage of the proteo protein gene. J Comp Neurol 1998;394:506-519.
    • (1998) J. Comp. Neurol. , vol.394 , pp. 506-519
    • Anderson, T.J.1    Schneider, A.2    Barrie, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.