Krabbe Disease: Genetic Aspects and Progress toward Therapy
Tóm tắt
Từ khóa
Tài liệu tham khảo
Wenger, 1997, Krabbe disease (globoid cell leukodystrophy), 421
Wenger, D, A, Suzuki, K, Suzuki, Y, Suzuki, K, Galactosylceramide lipidosis. Globoid cell leukodystrophy (Krabbe disease). In, The Metabolic and Molecular Bases of Inherited Disease, 8th ed. (, Scriver, C, R, Beaudet, A, L, Sly, W, AS, Valle, D, Childs, B, Vogelstein, B, Eds.), New York, McGraw-Hill, in press.
Yeager, 1984, Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse, Science, 225, 1053, 10.1126/science.6382609
Krivit, 1998, Hematopoietic stem-cell transplantation in globoid cell leukodystrophy, New Engl J Med, 338, 1119, 10.1056/NEJM199804163381605
Krabbe, 1916, A new familial, infantile form of diffuse brain sclerosis, Brain, 39, 74, 10.1093/brain/39.1-2.74
Hagberg, 1970, Infantile globoid cell leucodystrophy (Krabbe's disease): A clinical and genetic study of 32 Swedish cases 1953–1967, Neuropaediatrie, 1, 74, 10.1055/s-0028-1091865
Thomas, 1984, Galactosylceramide lipidosis: Novel presentation as a slowly progressive spinocerebellar degeneration, Ann Neurol, 16, 618, 10.1002/ana.410160515
Vanier, 1991, Symptomatology of late onset Krabbe's leukodystrophy: The European experience, Dev Neurosci, 13, 240, 10.1159/000112167
Verdu, 1991, Globoid cell leukodystrophy: A family with both late-infantile and adult type, Neurology, 41, 1382, 10.1212/WNL.41.9.1382
Kolodny, 1991, Late-onset Krabbe disease (globoid cell leukodystrophy): Clinical and biochemical features of 15 cases, Dev Neurosci, 13, 232, 10.1159/000112166
Luzi, 1996, Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease, Ann Neurol, 40, 116, 10.1002/ana.410400119
Satoh, 1997, Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene, Neurology, 49, 1392, 10.1212/WNL.49.5.1392
Jardim, 1999, Protracted course of Krabbe disease in an adult patient bearing a novel mutation, Arch Neurol, 56, 1014, 10.1001/archneur.56.8.1014
Wenger, 1997, Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications, Hum Mutat, 10, 268, 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D
Fu, 1999, Molecular heterogeneity of Krabbe disease, J Inher Metab Dis, 22, 155, 10.1023/A:1005449919660
Chen, 1993, Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy, Hum Molec Genet, 2, 1841, 10.1093/hmg/2.11.1841
Sakai, 1994, Krabbe disease: Isolation and characterization of a full-length cDNA for human galactocerebrosidase, Biochem Biophys Res Commun, 198, 485, 10.1006/bbrc.1994.1071
Luzi, 1995, Structure and organization of the human galactocerebrosidase (GALC) gene, Genomics, 26, 407, 10.1016/0888-7543(95)80230-J
Luzi, 1997, Analysis of the 5′ flanking region of the human galactocerebrosidase (GALC) gene, Biochem Molec Med, 62, 159, 10.1006/bmme.1997.2643
Sakai, 1998, Human galactocerebrosidase gene: Promoter analysis of the 5′-flanking region and structural organization, Biochim Biophys Acta, 1395, 62, 10.1016/S0167-4781(97)00140-1
Chen, 1993, Galactocerebrosidase from human urine: Purification and partial characterization, Biochim Biophys Acta, 1170, 53, 10.1016/0005-2760(93)90175-9
Sakai, 1994, Purification and characterization of galactocerebrosidase from human lymphocytes, J Biochem, 116, 615, 10.1093/oxfordjournals.jbchem.a124569
Nagano, 1998, Expression and processing of recombinant human galactosylceramidase, Clin Chim Acta, 272, 53, 10.1016/S0009-8981(98)00095-3
Rafi, 1995, A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease, Hum Molec Genet, 4, 1285, 10.1093/hmg/4.8.1285
Luzi, 1995, Characterization of the large deletion in the GALC gene found in patients with Krabbe disease, Hum Molec Genet, 4, 2335, 10.1093/hmg/4.12.2335
Ichioka, 1987, Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): Effects on levels of galactosylceramidase, psychosine, and galactocerebrosides, Proc Natl Acad Sci USA, 84, 4259, 10.1073/pnas.84.12.4259
Hoogerbrugge, 1988, Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse, J Clin Invest, 81, 1790, 10.1172/JCI113521
Hoogerbrugge, 1988, Donor derived cells in the central nervous system of twitcher mice after bone marrow transplantation, Science, 239, 1035, 10.1126/science.3278379
Huppes, 1992, Detection of migrated allogeneic oligodendrocytes throughout the central nervous system of the galactocerebrosidase-deficient twitcher mouse, J Neurocytol, 21, 129, 10.1007/BF01189011
Matsumoto, 1998, Transgenic introduction of human galactosylceramidase into twitcher mouse: Significant phenotype improvement with a minimal expression, Dev Brain Dysfunc, 10, 142
Rafi, 1996, Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells, Biochem Molec Med, 58, 142, 10.1006/bmme.1996.0042
Gama Sosa, 1996, Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL-3 retroviral-mediated gene transfer, Biochem Biophys Res Commun, 218, 766, 10.1006/bbrc.1996.0136
Costantino-Ceccarini, 1999, Transduction of cultured oligodendrocytes from normal and twitcher mice by a retroviral vector containing human galactocerebrosidase (GALC) cDNA, Neurochem Res, 24, 287, 10.1023/A:1022574323784
Bambach, 1997, Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy, Bone Marrow Transplant, 19, 399, 10.1038/sj.bmt.1700665
Taniike, 1999, An apoptotic depletion of oligodendrocytes in the twitcher, a murine model of globoid cell leukodystrophy, J Neuropathol Exp Neurol, 58, 644, 10.1097/00005072-199906000-00009
Suzuki, 1998, Twenty-five years of the “psychosine hypothesis”: A personal perspective of its history and present status, Neurochem Res, 23, 251, 10.1023/A:1022436928925
Ghodsi, 1998, Extensive β-glucuronidase activity in murine central nervous system after adenovirus-mediated gene transfer to brain, Hum Gene Ther, 9, 2331, 10.1089/hum.1998.9.16-2331
Skorupa, 1999, Sustained production of β-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in a large volume of brain in mucopolysaccharidosis VII mice, Exp Neurol, 160, 17, 10.1006/exnr.1999.7176
Bosch, 2000, Long-term and significant correction of brain lesions in adult mucopolysaccharidosis Type VII mice using recombinant AAV vectors, Molec Ther, 1, 63, 10.1006/mthe.1999.0005
Johe, 1996, Single factors direct the differentiation of stem cells from the fetal and adult central nervous system, Genes Dev, 10, 3129, 10.1101/gad.10.24.3129
McKay, 1997, Stem cells in the central nervous system, Science, 276, 66, 10.1126/science.276.5309.66
Azizi, 1998, Engraftment and migration of human bone marrow stromal cells implanted in the brains of albino rats—Similarities to astrocyte grafts, Proc Natl Acad Sci USA, 95, 3908, 10.1073/pnas.95.7.3908
Ourednik, 1999, Neural stem cells—A versatile tool for cell replacement and gene therapy in the central nervous system, Clin Genet, 56, 267, 10.1034/j.1399-0004.1999.560403.x
Brustle, 1999, Embryonic stem cell-derived glial precursors: A source of myelinating transplants, Science, 285, 754, 10.1126/science.285.5428.754
Yandava, 1999, “Global” cell replacement is feasible via neural stem cell transplantation: Evidence from the dysmyelinated shiverer mouse brain, Proc Natl Acad Sci USA, 96, 7029, 10.1073/pnas.96.12.7029
Torchiana, 1998, Retroviral-mediated transfer of the galactocerebrosidase gene in neural progenitor cells, NeuroReport, 9, 3823, 10.1097/00001756-199812010-00011
Wenger, 1999, Neural stem cells for the treatment of the twitcher mouse model of Krabbe disease, Am J Hum Genet, 65, A116