1992 Fiscal Year Annual Research Report

単一遺伝子病の分子・細胞生物学的研究,疾患発症の分子機構の解明

Research Project

Project/Area Number	04260102
Research Institution	Kumamoto University
Principal Investigator	松田一郎熊本大学, 医学部, 教授 (10000986)
Co-Investigator(Kenkyū-buntansha)	岡田伸太郎大阪大学, 医学部, 教授 (30028609) 折居忠夫岐阜大学, 医学部, 教授 (20045339) 北川照男日本大学, 医学部, 教授 (50058765) 成澤邦明東北大学, 医学部, 教授 (90004647) 山村研一熊本大学, 医学部, 教授 (90115197)
Keywords	先天代謝異常 / 遺伝子解析 / モデル動物 / レセプター異常 / 細胞小器官異常 / 遺伝子導入 / 遺伝子発現
Research Abstract	「単一遺伝子病の分子,細胞生物学的研究,疾患発症の分子機構の解明」は以下の如く、いくつかのプロジェクトに分かれて、班員9人、公募研究員18人により行われた。 1.単一遺伝子病の変異遺伝子の解析:対象となった疾患、ないし酵素は、Gancher病,グルコキナーゼ欠損症,クラベ病,Denys-Drash症候群,メチルマロン酸血症,フェニルケトン尿症,オルニチントランスカルバミラーゼ欠損症,メープルシロップ尿症,インスリン受容体,GP_1結合膜蛋白の1つであるHR20,ホスフォフルクトキナーゼ,チロシナーゼ,プロテインS,βガラクトシダーゼ,Tay Sachs病,NADHシトクロームb還元酵素,Pit-1欠損症について解析が行われた。特にグルコキナーゼ欠損症は糖尿病の病因の1つとして注目されているし、Pit-1(下垂体特異的転写因子)欠損症は現在知られている唯一の転写因子の遺伝病である。 2.モデルマウスの作成及びこれを用いた解析遺伝子相同組み換えを用いた遺伝子病モデルマウスが家族性アミロイドニューロパシィ,色素性乾皮症について作成され、それぞれを用いた病態解析による臨床研究では得られない貴重な結果を得た。 3.細胞小器官異常症の分子病理:ミトコンドリヤ病,ペリオキシゾーム病についてそれぞれ新しい変異が見出され、さらに細胞生物学の手法を用いた病態の解明がなされた。 4.遺伝子導入とそれを用いた変異遺伝子の発症制御遺伝子導入についてリボゾームを用いた新しい手法が開発され、今後これを用いた目的臓器への遺伝子導入が期待される。動物実験ではGunnラットや正常ラットへそれぞれUDP-グルクロニルトランスフェラーゼ遺伝子,ジストロフィン遺伝子が導入され発現研究が行われている。

Research Products

(94 results)

All Other

All Publications (94 results)

[Publications] Mitsubuchi H.: "Gene analysis of Mennonite maple syrup urine disease kindred,using primer-specific restriction map modification." J.Inh.Metab.Dis.15. 181-187 (1992)
[Publications] Nobukuni Y.: "Morecular diagnosis of maple syrup urine disease:Screening and identification of gene mutations in branched chain α-ketoacid dehydrogenase multienzyme complex." J.Inher.Metab.Dis.15. 827-833 (1992)
[Publications] Matsuura S: "Leukocyte adhesion deficiency:identification of nobel mutation in two Japanese patients with severe form." Bioch.Bioph.Res.Comm.184. 1460-1467 (1992)
[Publications] Ohta K.: "Structure organization and chromosomal localization of the gene for the human Pit-1." Gene. 122. 387-388 (1992)
[Publications] Ohta T.: "Differential effect of subsepecies of lipoprotein coptaining apolipoprotein A-1 on cholesterol loaded macrophages:Functional correlation with lethithin:cholostorol acyltransforaso." Bioph.Beochem.Acta.1165. 119-128 (1992)
[Publications] Uchino T.: "Three novel mutations in the lever-type arginase gene in three unrelated Japanese patients with arginiemia." Am.J.Human Genet.51. 1406-1412 (1992)
[Publications] Ohta K.: "Mutations in the Pit-1 gene in children with combined Pitnnitary hormone deficiency." Biolph.Res.Commun.189. 851-855 (1992)
[Publications] Tanoue A.: "Sex-determing region Y(SRY) in a patient 46,XX true hermaphroditism." JPN J.Human Genet.37. 311-320 (1992)
[Publications] Takashima H.: "Characterization of cell tolerance to hepatitis B virus (HBV) antigen in transgenic mice." Immunology. 75. 398-405 (1992)
[Publications] Yamamura K.: "Transgenic mouse as tool for the study of autoimmune disease:insulin-dependent diabetes mellitus." Int J.Immunopharmac. 14. 451-455 (1992)
[Publications] Zhao X.: "Developmental and liver-specific expression directed by the serum amyloid P component promoter in transgenic mice." J.Biochem.111. 736-738 (1992)
[Publications] Murakami T.: "Effect of serum amuloid P component level on transtyretin derived amyloid deposition in a transgenic mouse mobel of familial amyloedotic polyneuropathy." Am.J.Pathol.141. 451-456 (1992)
[Publications] Miyazaki T.: "prevention of autuimmune insulitis in nonobese dic mice by expression of major histocopatibility complex class IL molecules." Proc.Natl.Acad.Sci.USA. 89. 9519-9523 (1992)
[Publications] Kure S.: "Idehtification of a common mutation in finnish patients with nonketotic hyperglycinemia." J.Clin.Invest. 90. 160-164 (1992)
[Publications] Kure S.: "Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts." J.Pediatr.120. 95-98 (1992)
[Publications] Matsubara Y.: "Medium-chain acyl CoA dehydrogenasa dificiency:Molecular aspects." Eur.J.Pediatr.151. 154-159 (1992)
[Publications] Matsubara Y.: "Dried blood spot on filter paper as a source of mRNA." nucleic acids res. 20. 1998 (1992)
[Publications] Tada K.: "Non-ketotic hyperglycinemia:a life-threatening disorder in the neonate." Early Human Development. 29. 75-81 (1992)
[Publications] Suzuki Y.: "Neonatal form of biotin responsive multiple calboxylase dificiency." J.Nutri.Sci.Vitamn.,Speceal Issue. 597-600 (1992)
[Publications] Narisawa K.: "Thiamine responsive pyruvate dehydrogenase defiency" J.Nutr.Sci.Vitamn.,Special Issue. 585-588 (1992)
[Publications] Takahashi K.: "Phenylketonuria-a novel mutation detected by the analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast." Lancet. 340. 1473 (1992)
[Publications] Hendrickx J.: "Prenatal exclusion of medium chain acyl CoA dehydrogenase (MCAD) deficiency by direct ditection of the mutation with PCR." Prenatal Diagnosis. 12. 74-76 (1992)
[Publications] 衛藤義勝: "遺伝子治療の現状" 小児医学. 1129-1153 (1992)
[Publications] 衛藤義勝: "遺伝性脱髄モデルマウスに於ける発症機序" 神経研究の進歩. 36. 27-40 (1992)
[Publications] Ida H.: "cDNA cloning of sphingomyelinase." J.Biochem.(1993)
[Publications] Hasegawa Y.: "Molecular studies of arylsulfatase A gene in Japanese patients with metachromatic leukodystrophy." DNA and Cell biology. (1993)
[Publications] Kaoru Izai: "Novel fatty acid-ozidation enzymes rat liver mitochondria.Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase." J.Biol.Chem.267. 1027-1033 (1992)
[Publications] Yasushi Uchida: "Novel fatty acid-oxidation enzymes in rat liver mitocgondria.purification and properties of enoy-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl CoA thiolase trifunetional protoin." J.Biol.Chem.267. 1034-1041 (1992)
[Publications] Toshiyuki Fukao: "Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase:A complete analysis of two generations of a family weth 3-ketothiolase doficioncy." J.Clin.Invest.89. 474-479 (1992)
[Publications] Nobuyuki Shimozawa: "A human gene responsible for Zwllweger syndrome that affects peroxisome assembly." Science. 255. 1132-1134 (1992)
[Publications] Kazuko Sukegawa: "Intermediate form of mucopolysaccharidosis type (Hunter disease):A C1327 to T substitution in the iduronate sulfatase gene." Biochem.Biophys.Res.Commun.183. 809-813 (1992)
[Publications] Yasuyuki Suzuki.: "Different intracellular localization of peroxisomal proteins in fibroblasts from patients with aberrant peroxisome assemble." Cell Struct.Funct.17. 1-8 (1992)
[Publications] Hiroyuki Okamoto: "Optimization of electroporation for transfection of human fibroblact cell lines with origin-defective SV40 DNA:Development of human transformed fibroblast cell lines with mucopolysaccharidoses" Cell Struct.Funct.17. 123-128 (1992)
[Publications] M.Masuno: "Interstitial deletion of 17P11.2 with brain abnormalities." Clin.Genet.41. 278-280 (1992)
[Publications] Yutaka Nakamura: "Severe infantile sialidosis:The characteristics of oligosaccharides isolated form the urine and the abdominal ascites." Tohoku J.Exip.Med.166. 407-415 (1992)
[Publications] Shigehiro Yajima: "Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells." Human.Genet.88. 491-499 (1992)
[Publications] M.Masuno: "Chromosome mapping of the human mitochondrial acetoacetylcoenzyme A thiolase gene to 11q 22.3 q23.1 by fluorescence in situ hybridization/" Cytogenet Cell Genet. 60. 121-122 (1992)
[Publications] ToShiyuki Fukao: "Molecular basis of 3-ketothiolase deficincy." New Developments in Fatty Acid Oxidation,Wiley-Liss,Inc.,New York. 573. 573-581 (1992)
[Publications] Toshiyuke Fukao: "Molecular basis of 3-ketothiolase deficiency:idntification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping." Biochim.Biophys.Acta.1139. 184-188 (1992)
[Publications] Hiroyuki Nagasawa: "Neurological findings in glutaric aciduria type:report of fort Japanese patients." Acta Pediatrica Japonica. 34. 409-415 (1992)
[Publications] Toshiyuki Fukao: "Molecular basis of 3-ketothiolase deficiency:detection of gene mutations and expression of mutant cDNA of mitochondrial acetoacetyl-CoA thiolase." Human Genet.90. 208-210 (1992)
[Publications] Seiji Yamagushi: "Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency." Tohoku J.Exp.Med.167. 143-153 (1992)
[Publications] A.Wakazono: "Interstitial deletion of the long arm of chromosome 11:Report of a case and review of the literature." Jpn.J.Hum.Genet.37. 229-234 (1992)
[Publications] Seiji Fukuda: "Mucopolysaccharidosis type A N-Acetylatlactosamine-6-sulfate sulfatase exonic point mutation in classical morquio and mild cases." J.Clin.Invest.90. 1049-1053 (1992)
[Publications] Tatsuya Ogawa: "Molecular basis of mucopolysaccharidosis A.N-acetylgalactosamine-6-sulfate exonic point mutations." Connective Tissue. 24(3). 177-178 (1992)
[Publications] Yoshihiro Nakashima: "Molecular basis of mucopolysaccharidosis A at the genome level." Commective Tissue. 24(3). 179-180 (1992)
[Publications] H.Okamoto: "Transformation and characterization of mutant human fibroblasts defective in peroxisome assembly." Experimentel Cell Research. 201. 307-312 (1992)
[Publications] N.Shimozawa: "Animal cell mutants represent two complementation groups of peroxisomedefecteve Zellweger syndrome." J.Clin.Invest.90. 1864-1870 (1992)
[Publications] K.Maeda: "Improvement of clinical and MRI findings in a boy with adrenoleukodystrophy by dietary erucic acid therapy." Brain & Devilopment.
[Publications] S.Yamaguchi: "Chemical diagnosis of a mild form of glutaric aciduria type:Study of urinary metaboletes and experience of prenatal diagnosis." Advances in Chemical Diagnosis and Treatment of Inherited Mctabolic Disorders.
[Publications] Seiji Yamaguchi: "Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency:diagnosis of geterozygotes using immunochemical determination of the ratio of mitochondrial acetoneetyl CoA thiolase and 3-ketoacyl CoA thiolase proteins." Pediatr.Res.
[Publications] 折居忠夫: "遺伝子変異が同定されたムコ多糖症II型(Huntre症候群)中間型の1例" 代謝. 7. 641-649 (1992)
[Publications] 折居忠夫: "ムコ多糖療" 小児科診療. 55. 2320-2325 (1992)
[Publications] 折居忠夫: "新薬の使い方と問題点-先天代謝異常" 小児科臨床. 45. 2645-2656 (1992)
[Publications] 鈴木康之: "ペルオキシゾーム病" Biomedica. 7(2). 155-159 (1992)
[Publications] 折居忠夫: "先天代謝異常のDNA診断-ペルオキシソーム病-" 小児科診療. 55(5). 1037-1042 (1992)
[Publications] 折居忠夫: "Zellwegre症候群の遺伝子変異" 臨床検査. 36. 230-232 (1992)
[Publications] 下沢伸行: "遺伝子工学からみたペルオキシソーム欠損症" 小児医学. 25. 1193-1116 (1992)
[Publications] 山口清次: "有機酸代謝異常症の発症時期と予後" 日本小児科学会雑誌. 96. 1058-1064 (1992)
[Publications] 坂井敦子: "β-ケトチオラーゼ欠損症の酵素診断:ヒトの組織におけるチオラーゼ活性と酵素蛋白の検出" 日本小児科学会雑誌. 96. 1657-1662 (1992)
[Publications] Inui K: "Mitochondrial encephalonyopathies with the muation of the mitochondrial tRNA Leu (UUR) gene." J.Pediatr.120. 62-66 (1992)
[Publications] Taniike M.: "A case of pigmentaty type of orthochromatic leukodystrophy with early onset and globoid cells." Acta neuropathol.83. 427-433 (1992)
[Publications] Taniike M.: "Mitochondrial tRNA IIe mutation in fatal cardiomyopathyl." Biochem.Bioph.Res.Comm.186. 47-53 (1992)
[Publications] Inui K.: "Detection of the A to G (3243) mutation of mitochondrial DNA in Jajpanese families with mitochondrial encephalomyopathies." J.Inher.Metab.Dis.15. 311-314 (1992)
[Publications] Tsukamoto H.: "A case of hallerborden-spatz disease:progressive and intractable dystonia controlled by bilateral thalanotomy." Brain & Development. 14. 269-272 (1992)
[Publications] Masahiko Tsuda: "Molecular analysis of two japanese cases of dinys-drash syndrome." J.Inher.Metad.Dis.16. (1993)
[Publications] Sakiyama T.: "Study of bone mattow transplantation for niemann-Pick mice using sry and zfy genes." J.inher.Metab.Dis.15. 821-826 (1992)
[Publications] Tsuda M: "The primary structure of mouse saposin" Biochem.Biophys.Res.Commun.184. 1266-1272 (1992)
[Publications] 崎山武志: "ライソゾーム病の骨髄移植による治療" 第23回日本医学会総会会誌. II. 66 (1992)
[Publications] 崎山武志: "Niemann-Pick病の分子生物学的研究" 日大医学雑誌. 51. 43-46 (1992)
[Publications] 崎山武志: "リソゾーム病に対する骨髄移植法-現状と移植効果のメカニズム-" 小児科臨床. 45. 2401-2410 (1992)
[Publications] Aoyama Toshifumi: "A noves disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase."
[Publications] Kamijo Takehiko: "Biochemical and molecular hiterogeneity of mutant trifunctional protein in fibroblasts from two patients with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency."
[Publications] Asano T.: "Up-cegulatio of GLUT2 mRNA by glucose,monnose,and fractose in isolated rat hepatocytes." Diabetes. 41. 22-25 (1992)
[Publications] Shibasaki Y.: "Two glucose transporter isoforms are sorted differentially and aer expressed in distinct cellular compartments." Biochem.J.281. 829-834 (1992)
[Publications] Asano T.: "Glucose increases the papain susceptibility of GLUT1 glucose transporter." FEBS letters. 298. 129-132 (1992)
[Publications] Lin,J-L: "Delition of C-terminal 12 amino acids of GLUT1 protein does not abolish glucose transport activity." Biochem.biophys.Res.Commun.184. 865-870 (1992)
[Publications] Asano T.: "Domains responsible for differential targeting of glucose transporter isoforms." J.Biol.Chem.267. 19636-19641 (1992)
[Publications] Katagiri H.: "Replacement of intracellular C-terminal domain of GLUT1 glucose transporter with that of GLUT2 increases Vmax and Km of transport activity." J.Biol.Chem.267. 22550-22555 (1992)
[Publications] Murakami T.: "A novel transthyretin mutation associated with familial amyloidotic polyneuropathy." Biochem.Biophys.Res.Comm.182. 520-526 (1992)
[Publications] Shiozaki H.: "Suppresive effect of LD78 on the proliferation of human hemopoietic progenitors." Jpn.J.Cancer Res.83. 499-504 (1992)
[Publications] Murakami T.: "Effect of serum amyloid P component level on transthyretin-derived amyloid deposition in a transgenic mouse model of familial amyloidotic polyneuropathy." Am.J.Pathol.141. 451-456 (1992)
[Publications] Qiu H.: "Chromosomal localization of the nouse prealbumin gene (ttr) by in situ hybridization." Cytogenet.Cell Genet.61. 186-188 (1992)
[Publications] Episkopou V.: "Disruption of the transthyretin gene results in mice weth depressed levels of plasma retinol and thyroid hormone." Proc.Natl.Sci.USA. (1993)
[Publications] Matsuura T.: "Four novel gene mutations in five Japanese male patients with neonatal late onset OTC deficiency.Applocation of PCR-single-strand conformation polymorphisms for all exons and adiacent introns." Hum.Genet.(1993)
[Publications] Hirashima M.: "Nucleotide sequence of the third cytokine LD78 gene and mapping of all three LD78 qene loci to human chromosome 17." DNA Sequence. (1993)
[Publications] 堀江恭二: "遺伝学領域におけるトランスジェニックマウス" 臨床科学. 28. 895-902 (1992)
[Publications] 島田和典: "家族性アミロイドボリニューロパチー" 臨床検査. 36. 221-222 (1992)
[Publications] 瀧原義宏: "胚性腫瘍細胞のcDNAプロジェクト" 蛋白質核酸酵素. 38. 468-475 (1993)
[Publications] 西口聖治: "遺伝子治療" ホルモンと臨床. (1993)
[Publications] Matsubara Y.: "Prevalence of k329e mutation in the medium chain acy1 CoA dehydrogenase gene determined from guthrie cards." Wiley-Liss Inc.in;New Developments in fatty acid oxidation., 10 (1992)
[Publications] Yamamura K.: "Molecular approaches to the Study and Treatment of Human Deseases." Elsevier Science Publisgers, 8 (1992)
[Publications] 西口聖治(分担執筆): "新生化学実験構座,.2(クローニングベクター)" 東京化学同人社, 29 (1992)
[Publications] 島田和典(分担執筆): "臨床遺伝医学III(家族性アミロイドポリニューロパチー)" 診断と治療社, 6 (1993)

1992 Fiscal Year Annual Research Report

単一遺伝子病の分子・細胞生物学的研究,疾患発症の分子機構の解明

Principal Investigator

松田 一郎 熊本大学, 医学部, 教授 (10000986)

Research Products

[Publications] Mitsubuchi H.: "Gene analysis of Mennonite maple syrup urine disease kindred,using primer-specific restriction map modification." J.Inh.Metab.Dis.15. 181-187 (1992)

[Publications] Nobukuni Y.: "Morecular diagnosis of maple syrup urine disease:Screening and identification of gene mutations in branched chain α-ketoacid dehydrogenase multienzyme complex." J.Inher.Metab.Dis.15. 827-833 (1992)

[Publications] Matsuura S: "Leukocyte adhesion deficiency:identification of nobel mutation in two Japanese patients with severe form." Bioch.Bioph.Res.Comm.184. 1460-1467 (1992)

[Publications] Ohta K.: "Structure organization and chromosomal localization of the gene for the human Pit-1." Gene. 122. 387-388 (1992)

[Publications] Ohta T.: "Differential effect of subsepecies of lipoprotein coptaining apolipoprotein A-1 on cholesterol loaded macrophages:Functional correlation with lethithin:cholostorol acyltransforaso." Bioph.Beochem.Acta.1165. 119-128 (1992)

[Publications] Uchino T.: "Three novel mutations in the lever-type arginase gene in three unrelated Japanese patients with arginiemia." Am.J.Human Genet.51. 1406-1412 (1992)

[Publications] Ohta K.: "Mutations in the Pit-1 gene in children with combined Pitnnitary hormone deficiency." Biolph.Res.Commun.189. 851-855 (1992)

[Publications] Tanoue A.: "Sex-determing region Y(SRY) in a patient 46,XX true hermaphroditism." JPN J.Human Genet.37. 311-320 (1992)

[Publications] Takashima H.: "Characterization of cell tolerance to hepatitis B virus (HBV) antigen in transgenic mice." Immunology. 75. 398-405 (1992)

[Publications] Yamamura K.: "Transgenic mouse as tool for the study of autoimmune disease:insulin-dependent diabetes mellitus." Int J.Immunopharmac. 14. 451-455 (1992)

[Publications] Zhao X.: "Developmental and liver-specific expression directed by the serum amyloid P component promoter in transgenic mice." J.Biochem.111. 736-738 (1992)

[Publications] Murakami T.: "Effect of serum amuloid P component level on transtyretin derived amyloid deposition in a transgenic mouse mobel of familial amyloedotic polyneuropathy." Am.J.Pathol.141. 451-456 (1992)

[Publications] Miyazaki T.: "prevention of autuimmune insulitis in nonobese dic mice by expression of major histocopatibility complex class IL molecules." Proc.Natl.Acad.Sci.USA. 89. 9519-9523 (1992)

[Publications] Kure S.: "Idehtification of a common mutation in finnish patients with nonketotic hyperglycinemia." J.Clin.Invest. 90. 160-164 (1992)

[Publications] Kure S.: "Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts." J.Pediatr.120. 95-98 (1992)

[Publications] Matsubara Y.: "Medium-chain acyl CoA dehydrogenasa dificiency:Molecular aspects." Eur.J.Pediatr.151. 154-159 (1992)

[Publications] Matsubara Y.: "Dried blood spot on filter paper as a source of mRNA." nucleic acids res. 20. 1998 (1992)

[Publications] Tada K.: "Non-ketotic hyperglycinemia:a life-threatening disorder in the neonate." Early Human Development. 29. 75-81 (1992)

[Publications] Suzuki Y.: "Neonatal form of biotin responsive multiple calboxylase dificiency." J.Nutri.Sci.Vitamn.,Speceal Issue. 597-600 (1992)

[Publications] Narisawa K.: "Thiamine responsive pyruvate dehydrogenase defiency" J.Nutr.Sci.Vitamn.,Special Issue. 585-588 (1992)

[Publications] Takahashi K.: "Phenylketonuria-a novel mutation detected by the analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast." Lancet. 340. 1473 (1992)

[Publications] Hendrickx J.: "Prenatal exclusion of medium chain acyl CoA dehydrogenase (MCAD) deficiency by direct ditection of the mutation with PCR." Prenatal Diagnosis. 12. 74-76 (1992)

[Publications] 衛藤 義勝: "遺伝子治療の現状" 小児医学. 1129-1153 (1992)

[Publications] 衛藤 義勝: "遺伝性脱髄モデルマウスに於ける発症機序" 神経研究の進歩. 36. 27-40 (1992)

[Publications] Ida H.: "cDNA cloning of sphingomyelinase." J.Biochem.(1993)

[Publications] Hasegawa Y.: "Molecular studies of arylsulfatase A gene in Japanese patients with metachromatic leukodystrophy." DNA and Cell biology. (1993)

[Publications] Kaoru Izai: "Novel fatty acid-ozidation enzymes rat liver mitochondria.Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase." J.Biol.Chem.267. 1027-1033 (1992)

[Publications] Yasushi Uchida: "Novel fatty acid-oxidation enzymes in rat liver mitocgondria.purification and properties of enoy-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl CoA thiolase trifunetional protoin." J.Biol.Chem.267. 1034-1041 (1992)

[Publications] Toshiyuki Fukao: "Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase:A complete analysis of two generations of a family weth 3-ketothiolase doficioncy." J.Clin.Invest.89. 474-479 (1992)

[Publications] Nobuyuki Shimozawa: "A human gene responsible for Zwllweger syndrome that affects peroxisome assembly." Science. 255. 1132-1134 (1992)

[Publications] Kazuko Sukegawa: "Intermediate form of mucopolysaccharidosis type (Hunter disease):A C1327 to T substitution in the iduronate sulfatase gene." Biochem.Biophys.Res.Commun.183. 809-813 (1992)

[Publications] Yasuyuki Suzuki.: "Different intracellular localization of peroxisomal proteins in fibroblasts from patients with aberrant peroxisome assemble." Cell Struct.Funct.17. 1-8 (1992)

[Publications] Hiroyuki Okamoto: "Optimization of electroporation for transfection of human fibroblact cell lines with origin-defective SV40 DNA:Development of human transformed fibroblast cell lines with mucopolysaccharidoses" Cell Struct.Funct.17. 123-128 (1992)

[Publications] M.Masuno: "Interstitial deletion of 17P11.2 with brain abnormalities." Clin.Genet.41. 278-280 (1992)

[Publications] Yutaka Nakamura: "Severe infantile sialidosis:The characteristics of oligosaccharides isolated form the urine and the abdominal ascites." Tohoku J.Exip.Med.166. 407-415 (1992)

[Publications] Shigehiro Yajima: "Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells." Human.Genet.88. 491-499 (1992)

[Publications] M.Masuno: "Chromosome mapping of the human mitochondrial acetoacetylcoenzyme A thiolase gene to 11q 22.3 q23.1 by fluorescence in situ hybridization/" Cytogenet Cell Genet. 60. 121-122 (1992)

[Publications] ToShiyuki Fukao: "Molecular basis of 3-ketothiolase deficincy." New Developments in Fatty Acid Oxidation,Wiley-Liss,Inc.,New York. 573. 573-581 (1992)

[Publications] Toshiyuke Fukao: "Molecular basis of 3-ketothiolase deficiency:idntification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping." Biochim.Biophys.Acta.1139. 184-188 (1992)

[Publications] Hiroyuki Nagasawa: "Neurological findings in glutaric aciduria type:report of fort Japanese patients." Acta Pediatrica Japonica. 34. 409-415 (1992)

[Publications] Toshiyuki Fukao: "Molecular basis of 3-ketothiolase deficiency:detection of gene mutations and expression of mutant cDNA of mitochondrial acetoacetyl-CoA thiolase." Human Genet.90. 208-210 (1992)

[Publications] Seiji Yamagushi: "Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency." Tohoku J.Exp.Med.167. 143-153 (1992)

[Publications] A.Wakazono: "Interstitial deletion of the long arm of chromosome 11:Report of a case and review of the literature." Jpn.J.Hum.Genet.37. 229-234 (1992)

[Publications] Seiji Fukuda: "Mucopolysaccharidosis type A N-Acetylatlactosamine-6-sulfate sulfatase exonic point mutation in classical morquio and mild cases." J.Clin.Invest.90. 1049-1053 (1992)

[Publications] Tatsuya Ogawa: "Molecular basis of mucopolysaccharidosis A.N-acetylgalactosamine-6-sulfate exonic point mutations." Connective Tissue. 24(3). 177-178 (1992)

[Publications] Yoshihiro Nakashima: "Molecular basis of mucopolysaccharidosis A at the genome level." Commective Tissue. 24(3). 179-180 (1992)

[Publications] H.Okamoto: "Transformation and characterization of mutant human fibroblasts defective in peroxisome assembly." Experimentel Cell Research. 201. 307-312 (1992)

[Publications] N.Shimozawa: "Animal cell mutants represent two complementation groups of peroxisomedefecteve Zellweger syndrome." J.Clin.Invest.90. 1864-1870 (1992)

[Publications] K.Maeda: "Improvement of clinical and MRI findings in a boy with adrenoleukodystrophy by dietary erucic acid therapy." Brain & Devilopment.

[Publications] S.Yamaguchi: "Chemical diagnosis of a mild form of glutaric aciduria type:Study of urinary metaboletes and experience of prenatal diagnosis." Advances in Chemical Diagnosis and Treatment of Inherited Mctabolic Disorders.

[Publications] Seiji Yamaguchi: "Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency:diagnosis of geterozygotes using immunochemical determination of the ratio of mitochondrial acetoneetyl CoA thiolase and 3-ketoacyl CoA thiolase proteins." Pediatr.Res.

[Publications] 折居 忠夫: "遺伝子変異が同定されたムコ多糖症II型(Huntre症候群)中間型の1例" 代謝. 7. 641-649 (1992)

[Publications] 折居 忠夫: "ムコ多糖療" 小児科診療. 55. 2320-2325 (1992)

[Publications] 折居 忠夫: "新薬の使い方と問題点-先天代謝異常" 小児科臨床. 45. 2645-2656 (1992)

[Publications] 鈴木 康之: "ペルオキシゾーム病" Biomedica. 7(2). 155-159 (1992)

[Publications] 折居 忠夫: "先天代謝異常のDNA診断-ペルオキシソーム病-" 小児科診療. 55(5). 1037-1042 (1992)

[Publications] 折居 忠夫: "Zellwegre症候群の遺伝子変異" 臨床検査. 36. 230-232 (1992)

[Publications] 下沢 伸行: "遺伝子工学からみたペルオキシソーム欠損症" 小児医学. 25. 1193-1116 (1992)

[Publications] 山口 清次: "有機酸代謝異常症の発症時期と予後" 日本小児科学会雑誌. 96. 1058-1064 (1992)

[Publications] 坂井 敦子: "β-ケトチオラーゼ欠損症の酵素診断:ヒトの組織におけるチオラーゼ活性と酵素蛋白の検出" 日本小児科学会雑誌. 96. 1657-1662 (1992)

[Publications] Inui K: "Mitochondrial encephalonyopathies with the muation of the mitochondrial tRNA Leu (UUR) gene." J.Pediatr.120. 62-66 (1992)

[Publications] Taniike M.: "A case of pigmentaty type of orthochromatic leukodystrophy with early onset and globoid cells." Acta neuropathol.83. 427-433 (1992)

[Publications] Taniike M.: "Mitochondrial tRNA IIe mutation in fatal cardiomyopathyl." Biochem.Bioph.Res.Comm.186. 47-53 (1992)

[Publications] Inui K.: "Detection of the A to G (3243) mutation of mitochondrial DNA in Jajpanese families with mitochondrial encephalomyopathies." J.Inher.Metab.Dis.15. 311-314 (1992)

[Publications] Tsukamoto H.: "A case of hallerborden-spatz disease:progressive and intractable dystonia controlled by bilateral thalanotomy." Brain & Development. 14. 269-272 (1992)

[Publications] Masahiko Tsuda: "Molecular analysis of two japanese cases of dinys-drash syndrome." J.Inher.Metad.Dis.16. (1993)

[Publications] Sakiyama T.: "Study of bone mattow transplantation for niemann-Pick mice using sry and zfy genes." J.inher.Metab.Dis.15. 821-826 (1992)

[Publications] Tsuda M: "The primary structure of mouse saposin" Biochem.Biophys.Res.Commun.184. 1266-1272 (1992)

[Publications] 崎山 武志: "ライソゾーム病の骨髄移植による治療" 第23回 日本医学会総会会誌. II. 66 (1992)

[Publications] 崎山 武志: "Niemann-Pick病の分子生物学的研究" 日大医学雑誌. 51. 43-46 (1992)

[Publications] 崎山 武志: "リソゾーム病に対する骨髄移植法-現状と移植効果のメカニズム-" 小児科臨床. 45. 2401-2410 (1992)

[Publications] Aoyama Toshifumi: "A noves disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase."

[Publications] Kamijo Takehiko: "Biochemical and molecular hiterogeneity of mutant trifunctional protein in fibroblasts from two patients with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency."

[Publications] Asano T.: "Up-cegulatio of GLUT2 mRNA by glucose,monnose,and fractose in isolated rat hepatocytes." Diabetes. 41. 22-25 (1992)

[Publications] Shibasaki Y.: "Two glucose transporter isoforms are sorted differentially and aer expressed in distinct cellular compartments." Biochem.J.281. 829-834 (1992)

松田一郎熊本大学, 医学部, 教授 (10000986)

[Publications] 衛藤義勝: "遺伝子治療の現状" 小児医学. 1129-1153 (1992)

[Publications] 衛藤義勝: "遺伝性脱髄モデルマウスに於ける発症機序" 神経研究の進歩. 36. 27-40 (1992)

[Publications] 折居忠夫: "遺伝子変異が同定されたムコ多糖症II型(Huntre症候群)中間型の1例" 代謝. 7. 641-649 (1992)

[Publications] 折居忠夫: "ムコ多糖療" 小児科診療. 55. 2320-2325 (1992)

[Publications] 折居忠夫: "新薬の使い方と問題点-先天代謝異常" 小児科臨床. 45. 2645-2656 (1992)

[Publications] 鈴木康之: "ペルオキシゾーム病" Biomedica. 7(2). 155-159 (1992)

[Publications] 折居忠夫: "先天代謝異常のDNA診断-ペルオキシソーム病-" 小児科診療. 55(5). 1037-1042 (1992)

[Publications] 折居忠夫: "Zellwegre症候群の遺伝子変異" 臨床検査. 36. 230-232 (1992)

[Publications] 下沢伸行: "遺伝子工学からみたペルオキシソーム欠損症" 小児医学. 25. 1193-1116 (1992)

[Publications] 山口清次: "有機酸代謝異常症の発症時期と予後" 日本小児科学会雑誌. 96. 1058-1064 (1992)

[Publications] 坂井敦子: "β-ケトチオラーゼ欠損症の酵素診断:ヒトの組織におけるチオラーゼ活性と酵素蛋白の検出" 日本小児科学会雑誌. 96. 1657-1662 (1992)

[Publications] 崎山武志: "ライソゾーム病の骨髄移植による治療" 第23回日本医学会総会会誌. II. 66 (1992)

[Publications] 崎山武志: "Niemann-Pick病の分子生物学的研究" 日大医学雑誌. 51. 43-46 (1992)

[Publications] 崎山武志: "リソゾーム病に対する骨髄移植法-現状と移植効果のメカニズム-" 小児科臨床. 45. 2401-2410 (1992)

[Publications] 堀江恭二: "遺伝学領域におけるトランスジェニックマウス" 臨床科学. 28. 895-902 (1992)

[Publications] 島田和典: "家族性アミロイドボリニューロパチー" 臨床検査. 36. 221-222 (1992)

[Publications] 瀧原義宏: "胚性腫瘍細胞のcDNAプロジェクト" 蛋白質核酸酵素. 38. 468-475 (1993)

[Publications] 西口聖治: "遺伝子治療" ホルモンと臨床. (1993)

[Publications] 西口聖治(分担執筆): "新生化学実験構座,.2(クローニングベクター)" 東京化学同人社, 29 (1992)

[Publications] 島田和典(分担執筆): "臨床遺伝医学III(家族性アミロイドポリニューロパチー)" 診断と治療社, 6 (1993)