1989 Fiscal Year Annual Research Report

運動系の分子遺伝生物学的アプロ-チ

Research Project

Project/Area Number	01623004
Research Institution	National Center of Neurology and Psychiatry
Principal Investigator	杉田秀夫国立精神・神経センター, 神経研究所, 所長 (80009951)
Co-Investigator(Kenkyū-buntansha)	宮武正新潟大学, 脳研究所・神経内科, 教授 (50048998) 鈴木絋一東京都臨床医学総合研究所, 遺伝情報, 部長 (80011948) 佐藤猛順天堂大学, 医学部・脳神経内科, 助教授 (40018594) 勝木元也東海大学, 医学部・DNA生物学教室, 教授 (20051732) 小幡邦彦岡崎国立共同研究機構, 生理学研究所・神経化学部門, 教授 (60013976)
Keywords	コリンアセチルトランスフェラ-ゼ / ホスホリパ-ゼC / ドレブリン / ミエリン塩基性蛋白 / ミトコンドリア脳筋症 / αーアクチニン / ジストロフィン / ホスホフルクトキナ-ゼ / レ-フレ-ナイハン症 / ミアリダ-ゼ欠損症 / ニュ-マンピック症
Research Abstract	本研究班の目的は運動系にかかわる各種の遺伝性疾患を遺伝子の異常、惑いは欠失としてその成因を明らかにする事にある。以下研究概要を述べる。繊維芽細胞を筋芽細胞に分化誘導するMyoD及びmyogeninのcDNAが単離された。コリンアセチ-ルトランスフェラ-ゼのcDNAをクロ-ニングし、その全塩基配列が明らかになった。またホスポリパ-ゼCの新しいcDNAが得られその構造が決定された。ミエリン形式不全突然変異マウス・シバラ-の受精卵にミエリン塩基性蛋白質遺伝子を導入しミエリン形成が回復できることを証明した。またアンチセンス遺伝子導入により正常マウスをシバラ-と同様のミエリン形成不全に出来る事を証明した。同様のシュ-タントであるミエリン欠損マウスではミエリン塩基性蛋白質発現障害があり、遺伝子解析では遺伝子重複があり上流域の遺伝子内に逆位がみられた。脳の発生に伴って出現、消失し、3つの分子型をとる蛋白質ドレブリンを二次元電気泳動法により固定したcDNAクロ-ニングして3型のcDNAの全塩基配列及び部分配列を決定した。ミトコンドリア脳筋症における電子伝達系酵素欠損の成立機序を明らかにすべく生検筋のミトコンドリアDNAを解析しDNAの欠失を見出し、またin situ hybridizationにてmRNAの分布を調べた。ネマリンミオパチ-の桿状体に出現するαーアリチニンの多型性が解析されたジストロフィンの分子種について幾つかのポリクロ-ナル、モノクロ-ナル抗体を用いて解析した。解糖系酵素、ホスホフルクトキナ-ゼのcDNAクロ-ニングにより酵素一次構造を決定し垂井病における酵素の一次構造異常並びに遺伝子異常部位を同定した。レツシナイハン病患者のHPRTcDNAを解析しcDNA上の変異部位を固定した。シアリダ-ゼ欠損症の分子レベルの解析を目的としてシアリダ-ゼ分画に含まれる蛋白質の1つである46kDのものについてcDNAクロ-ニング塩基配列を決定した。スフィンゴリピドアクチベ-タ-蛋白質のうち2つは同じプレカ-サ-から由来することがDNAレベルにより明らかになった。ニ-マンピック症及びそのシュ-タントマウスを用いてコレステロ-ル代謝の研究が行われた。

Research Products

(65 results)

All Other

All Publications (65 results)

[Publications] K.Arahata,E.P.Hoffman,L.M.Kunkel,S.Ishiura,T.Tsukahara,T.Ishihara,N.Sunohara,I.Nonaka,E.Ozawa,and H.Sugita: "Dystrophin diagnosis:Comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses(Duchene muscular dystrophy/Becker muscular dystrophy)" Proc,Natl.Acad.Sci.USA. 86. 7154-7158 (1989)
[Publications] K.Arahata,H.Sugita: "Dystrophin and the membrane hypothesis of muscular dystrophy" Trends in Pharmacological Sciences. 10. 437-439 (1989)
[Publications] M.Yamaguchi,S.Ishiura,T.Obinata,T.Tsukahara,K.Arahata,T.Tamiya,H.TakanoーOhmuro,T.Tsuchiya,H.Sugita: "Antiserum against the Synthetic polypeptide Fragment of Dystrophin Crossーreacts with Myofibrillar Cーprotein" Proc.Japan Acad.66. 19-22 (1990)
[Publications] H.Sugita,K.Arahata,T.Tsukahara,S,Ishiura: "Immunohistochemistry of Dystrophin in Various Neuromuscular Diseases" Pathogenesis and Therapy of Duchenne and Becker Muscular Dystrophy,edited by Byron A.Kakulas and Frank L.Mastaglia,Raven Press Ltd.,New York. 33-44 (1990)
[Publications] S.Tsuji,T.Yamauchi,M.Hiraiwa,T.Isobe,T.Okuyanam,K.Sakimura,Y.Takahashi,M.Nishizawa,Y,Uda and Tadashi Miyatake: "Molecular cloning of a fullーlength cDNA for human αーNーacety1ーgalactosaminidase(αーgalactosidase A)." Biochem.Biophys.Res.Commun.
[Publications] Tanaka,H.,Agata,A.,Obata,K.: "A new membrane antigen revealed by monoclonal antibodies is associated with motoneuron axonal pathways." Dev.Biol.132. 419-435 (1989)
[Publications] Go.M.J.,Tanaka H.,Obata K.,Fujita S.C.: "Developmental changes in phosphorylation state of neurofilament proteins in the chick embryonic optic nerve." Dev.Biol.134. 85-102 (1989)
[Publications] Shiral T.,Kojima N.,Nabeta Y.,Obata K.: "Two forms of drebrins,developmentally requlated brain priteins,in rat." Proc,Japan Acad.65,Sor.B.169-172 (1989)
[Publications] Hirabayashi Y.,Hirota M.,Suzuki Y.,Matsumoto M.,Obata K.,Ando S.: "Developmentally expressed Oーacetyl gangalioside GT3 in fetal rat cerebral cirtex." Neurosci.Lett.106. 193-198 (1989)
[Publications] 小幡邦彦: "神経系の初期発生とモノクロ-ナル抗体" 実験医学. 7. 911-916 (1989)
[Publications] Igarashi,M.,Waki,H.,Hirota,M.,Hirabayashi,Y.,Obata,K.,Ando.S.: "Differences in lipid composition between isolated growth cones from the forebrain and those from the brainstem in the fetal rat." Dev.Brain Res.51. 1-10 (1990)
[Publications] KATSUKI,M.et al.: "Lymphocyte infiltration into cerebellum in transgenic mice carrying human ILー2 gene." International Immunology. 1. 214-218 (1989)
[Publications] KIMURA,M.,KATSUKI,M. et al.: "Restoration of myelin formation by a single type of myelin basic protein in transgenic shiverer mice." Proc.Natl.Acad.Sci.USA. 86. 5661-5665 (1989)
[Publications] BONNEVILLE,M.,KATSUKI,M.: "Blockage of αβ Tーcell development by TCR γδ transgenes" Nature. 342. 931-934 (1989)
[Publications] KATSUKI,M. et al.: "Embroyonal tumors from transgenic mouse zygotes carrying human activated cーHaーras genes." Molecular Biology and Medecine. 6. (1989)
[Publications] FUKAMIZU,A.,KATSUKI,M. et al.: "Tissueーspecific expression of the human renin gene in transgenic mice." Biohem.Biophys.Res.Commun.165. 826-832 (1989)
[Publications] BONNEVILLE,M.,KATSUKI,M.et al.: "Transgenic mice demonstrate that epithelial homing of γδ T cells is determined by cell lineages of T cell receptor specificity" Cold Spring Harbor Symposia on Quantitaive Biology. 54. (1989)
[Publications] Sato T et al.: "Mitochondrial myopathies morphological approach to molecular abnormaltities" Bioenergitics: molecular biology biochemistry and pathologyed by Kim CH and Ozawa T.,Plenum,N.Y.(1989)
[Publications] Seki K,Sato T et al.: "Decreased activity of cytochrome c oxidase in the macular mottled mice: an immunoーelectron microscopic study" Acta Neuropath. 77. 465-471 (1989)
[Publications] Ihara Y,Namba R,Sato T,et al: "Mitochondrial encephalomyopathy(MELAS):pathological study and succussful therapy with coenzyme Q10 and idebenone" J Neurol Science. 90. 263-271 (1989)
[Publications] Sato t et al: "Defects in cytochrome c oxidase mRNA in chronic progrssive external ophthalmoplegia: detection by in situ hybridization" Ann Neurology. 26. 145-146 (1989)
[Publications] Nakamura S,Sato T et al: "Detection of mitochondrial DNA and mRNA by in situ hybridization" Acta Neuropahologica. (1990)
[Publications] 宋東林,佐藤猛,氏家寛,埜中征哉,小沢高将: "金コロイド標識免疫電子顕微鏡によるミトコンドリアミオパチ-の研究" 臨床神経. 29. 405-410 (1989)
[Publications] Kiichiro Matsumura,Teruo Shimizu,et al: "The immunological homology between two filamentous crossーlinker phosphoproteins,connectin and crossーbridge region of neurofilamentーH,is not affected by the phospherylatioin state." J.Biochem.(Tokyo). 105. 226-230 (1989)
[Publications] Kiichiro Matsumura,Teruo Shimizu,et al: "In vitro degradation of the Duchenne musocular dystrophy gene product(dystrophin)." Biomed.Res.10. 325-328 (1989)
[Publications] Kiichiro Matsumura,Teruo Shimizu,et al: "Immunological study of connectin(titin)in neuromuscular diseases;connectin is degraded extendively in Duchenne muscular dystrophy." J.Neurol.Sci.93. 147-156 (1989)
[Publications] Kazuki Hashimoto,Teruo Shimizu,et al: "Immunochemical analysis of human skeletal muscle αーactinin." J.Neurol.Sci.93. 199-209 (1989)
[Publications] Teruo Shimizu,Toru Mannen,et al: "Dense immunostainings on both neuromuscular and myotendon junctions with an anti dydtrophin monoclonal antibody." Biomed.Res.10. 405-409 (1989)
[Publications] Sinichiro Hori,Teruo Shimizu,et al: "Detection of dystrophin on twoーdimensional gel electrophoresis." Biochem.Biophys.Res.Comm.162. 726-731 (1989)
[Publications] Michito Takagi,Teruo Shimizu,et al: "Crossーreactivity of an antiーneurofilament antibody with a troponin T isoform" Muscle and nerve.12. 827-832 (1989)
[Publications] Koscak Maruyama,Teruo Shimizu,et al: "Behaviur of connectin(titin)and nebulin in skinned muscle fibres released after extreme stretch as revealed by immunoelectron microscopy." J.Muscle Res.Cell Motility. 10. 350-359 (1989)
[Publications] Takashi Murayama,Teruo Shimizu,et al: "Isolation of Dystrophin in Denatured Form from Rabbit Skeletal Muscle Myofibrils." Proc.Jap.Acad.Ser.B.65. 207-210 (1989)
[Publications] Teruo Shimizu,Toru Mannen,et al: "A chronological appearance of dystrophin on plasma membrane during human myogenesin in vivo." J.Neurol.Sci.
[Publications] Hikaru Tanaka,Teruo Shimizu,Eijiro Ozawa: "Exprssion of a Dystrophinーlike protein on the Surface Membrance of Muscle Cells in mdx Mice" Proc.Jap.Acad.Ser.B. 65. 238-241 (1989)
[Publications] Takashi Murayama,Teruo Shimizu,Kosaku Maruyama: "Isolation of Dystrophin in Denatured Form from Rabbit Skeletal Muscle Myofibrils." Proc,Jap.Acad,Ser.B.65. 207-210 (1989)
[Publications] K.Kubo,S.Ohno,S.Matsumoto,I.Yahara,K.Suzuki: "A novel yeast gene coding for a putative protein kinase" Gene. 76. 177-180 (1989)
[Publications] A.Hata,Y.Akita,Y.Konno,K.Suzuki,S.Ohno: "Direct evidence that the kinase activity of protein kinase C is involved in transcription through a TPAー responsive element" FEBS Letters. 252. 144-146 (1989)
[Publications] Y.Konno,S.Ohno,Y.Akita,H.Kawasaki.: "Enzaymatic properties of a novel phorbol ester receptor protein kinase,nPKC." J.Biochem.106. 673-678 (1989)
[Publications] Y.Homma,T.Takenawa,Y.Emori,H.Sorimachi,K.Suzuki: "Tissue and cell typeーspecific expression of mRNAs for four types of inositol phospholipidーspecific phospholipase C" Biochem.Biophys.Res.Commun.164. 406-412 (1989)
[Publications] H.Wada,S.Ohno,K.Kubo,C.Taya,S.Tsuji,Y.Yonehara,K.Suzuki: "Cell typeーspecific expression of the genes for the protein kinase C family:down regulation of mRNA for PKC alpha and nPKC epsilon" Biochem.Biophys.Res.Commun.165. 533-538 (1989)
[Publications] Y.Emori,Y.Homma,H.Sorimachi,H.Kawasaki,O.Nakanishi,K.Suzuki,T.Takenawa: "A second type of rat phosphoinositideーspecific phosphoinositideーspecific phospholipase C containg a src related sequence not essential for phosphoinositiseーhydrolyzing activity." J.Biol.Chem.264. 21885-21890 (1989)
[Publications] H.Nakajima,T.Yamasaki,T.Noguchi,T.Tanaka,N.Kono,S.Tarui: "Evidence for the alternative splicing and the alternative promotor in the human muscle phosphofructokinase gene at the 5'untranslated region." Biochem.Biophys.Res.Commun.166. 637-641 (1990)
[Publications] H.Nakajima,T.Noguchi,I.Mineo,T.Yamasaki,N.Kono,T.Tanaka,S.Tarui: "Molecular aspect of myogenic hyperuricemia:cloning of human muscle phosphofructokinase cDNA" Purine and Pyrimidine Metabolism in Man VI.Part A:Clinical and Molecular Biology,(K.Mikanagi et al.,eds.)Plenum Publishing,N.Y.and London. 485-491 (1989)
[Publications] H.Kiyokawa,N.Kono,T.Hamaguchi,M.Kawachi,K.Tajima,I.Mineo.Y.Yamada,T.Shimizu,M.Kuwajima,S.Tarui: "Hyperinsulinemia due to impaired insulin clearance associated with fastint hypoglycemia and postprandial hyperglycemia:an analysis of a patient with antiinsulin receptor antibodies." J.Clin.Endocrinol.Metab.69. 616-621 (1989)
[Publications] M.Kawachi,N.Kono,I.Mineo,Y.Yamada,S.Tarui: "Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for heridetary xanthinuria" Clin.Chim.Acta.(1990)
[Publications] I.Mineo,N.Kono,Y.Yamada,N.Hara,H.Kiyokawa,T.Hamaguchi,M.Kawachi,T.Yamasaki,H.Nakajima,M.Kuwajima,S.Tarui: "Glucose infusion abolishes the excessive ATP degradation in working muscles of a patient with McArdle disease." Muscle Nerve. (1990)
[Publications] H.Nakajima,N,Kono,T.Yamasaki,K.Hotta,M.Kawachi,M.Kuwajima,T.Noguchi,T.Tanaka,S.Tarui: "The molecular mechanism of the muscle phosphofructokinase deficiencyーーーan abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'splice site." J.Biol.Chem.
[Publications] K.Inui,et al.: "Study of Pathogenesis in Twitcher Mousu,an Enzymatically Authentic Model of Human Krabbe's Disease." J.Inher,Metb.Dis.,. 12(Suppl.2). 383-385 (1989)
[Publications] M.Taniike,et al.: "Immunohistochemical Demonstration of GM_2ーgangliosid in the ceutral nervous system of a 19ーweekーold fetas of TayーSachs disease" J.Inher,Mctab Dis.,. 12(Suppl.2). 372-374 (1989)
[Publications] M.Taniike,et al.: "Cornlatian of subcellular localozation of diseaseーspecific inclusions and splingolipid activator proteinー1(SAPー1)" Acta Histochem.Cytochem. 21(6). 565-573 (1989)
[Publications] K.Inui,et al.: "Impaired chlesterol esterification in cultured skin fibroblasto from patients with Iーcell disease" Biochem.Int.,. 18(6). 1129-1135 (1989)
[Publications] 坂田尚己ら: "生化学的診断法により診断し得たNiemannーPick病C型の1例" 日本小児科学会雑誌. 93. 2117-2122 (1989)
[Publications] M.Taniike,et al: "Ultrastructural pathology of rectum and skin biopsy specimens in lysosomal storage disease" Acta Histochem.Cytochem.
[Publications] Ida H.,Eto Y.,Maekawa K.: "Fetal GM1ーgangliosidosis:Morphological and Biochemical Studies" Brain and Development. 11. 394-398 (1989)
[Publications] Ida H.,Eto Y.,Maekawa: "Biochemical pathogenesis of demyelination in globoid cell leukodystrophy:effects of psychosine upon the oligodendroglial cells." Acta Pediatr.Jap.(1990)
[Publications] Maekawa K.: "Recent Advances in treatment and outcome of children Epilepsy" Acta Pediatr.Jap.31. 235-236 (1989)
[Publications] Sakuma S.,Maekawa K.: "Immunolohistochemical studies on somatotostain and growth hormane releasing factor neurons in the hypothulms of novel dwarf rat." BRain Research. 5. 171-173 (1989)
[Publications] Hamano S.,Maekawa: "Aicard syndrome:A report of autopsy case" Pediatric Neurology. 5. 171-173 (1989)
[Publications] Ohashi T.Eto Y.: "Molecular analysis of japanese Gaucher disease" J.Inherted Metab.Dis.12. 355-358 (1989)
[Publications] 永津俊治,吉田充男,金澤一郎,小川紀雄(編),分担執筆:小幡邦彦: "脳の神経栄養因子と先天性代謝異常,分担項目:神経の発生,再生とその促進因子" 平凡社, 261 (1989)
[Publications] 黒川正則,佐武明,宮本英七(編): "神経生化学上(蛋白質核酸酵素臨時増加),分担項目:シナプスの発生" 共立出版, 512 (1990)
[Publications] 佐藤猛: "ミトコンドリアミオパチ-“筋病理学"" 檜澤一夫,埜中征哉編,文光堂,東京, 245-255 (1989)
[Publications] 佐藤猛: "慢性進行性外眼筋麻痺症候群“筋病理学"" 檜澤一夫,埜中征哉編,文光堂,東京, 255-260 (1989)
[Publications] N.Kono,S.Tarui: "Muscle glycogenoses,In:Inherited metabolic diseases.Diagnosis and treatment" J.Fernandes,E.Bremer,J.M.Saudubray(eds)SpringerーVerlag,Heiderberg, (1990)
[Publications] N.Kono,S.Tarui: "The exercise test.In:Inherited metabolic disease.Diagnosis and treatment" J.Fernandes,E.Bremer,J.M.Saudubray(eds)SpringerーVerlag,Heiderberg, (1990)

1989 Fiscal Year Annual Research Report

運動系の分子遺伝生物学的アプロ-チ

Principal Investigator

杉田 秀夫 国立精神・神経センター, 神経研究所, 所長 (80009951)

Research Products

[Publications] K.Arahata,H.Sugita: "Dystrophin and the membrane hypothesis of muscular dystrophy" Trends in Pharmacological Sciences. 10. 437-439 (1989)

[Publications] M.Yamaguchi,S.Ishiura,T.Obinata,T.Tsukahara,K.Arahata,T.Tamiya,H.TakanoーOhmuro,T.Tsuchiya,H.Sugita: "Antiserum against the Synthetic polypeptide Fragment of Dystrophin Crossーreacts with Myofibrillar Cーprotein" Proc.Japan Acad.66. 19-22 (1990)

[Publications] H.Sugita,K.Arahata,T.Tsukahara,S,Ishiura: "Immunohistochemistry of Dystrophin in Various Neuromuscular Diseases" Pathogenesis and Therapy of Duchenne and Becker Muscular Dystrophy,edited by Byron A.Kakulas and Frank L.Mastaglia,Raven Press Ltd.,New York. 33-44 (1990)

[Publications] S.Tsuji,T.Yamauchi,M.Hiraiwa,T.Isobe,T.Okuyanam,K.Sakimura,Y.Takahashi,M.Nishizawa,Y,Uda and Tadashi Miyatake: "Molecular cloning of a fullーlength cDNA for human αーNーacety1ーgalactosaminidase(αーgalactosidase A)." Biochem.Biophys.Res.Commun.

[Publications] Tanaka,H.,Agata,A.,Obata,K.: "A new membrane antigen revealed by monoclonal antibodies is associated with motoneuron axonal pathways." Dev.Biol.132. 419-435 (1989)

[Publications] Go.M.J.,Tanaka H.,Obata K.,Fujita S.C.: "Developmental changes in phosphorylation state of neurofilament proteins in the chick embryonic optic nerve." Dev.Biol.134. 85-102 (1989)

[Publications] Shiral T.,Kojima N.,Nabeta Y.,Obata K.: "Two forms of drebrins,developmentally requlated brain priteins,in rat." Proc,Japan Acad.65,Sor.B.169-172 (1989)

[Publications] Hirabayashi Y.,Hirota M.,Suzuki Y.,Matsumoto M.,Obata K.,Ando S.: "Developmentally expressed Oーacetyl gangalioside GT3 in fetal rat cerebral cirtex." Neurosci.Lett.106. 193-198 (1989)

[Publications] 小幡邦彦: "神経系の初期発生とモノクロ-ナル抗体" 実験医学. 7. 911-916 (1989)

[Publications] Igarashi,M.,Waki,H.,Hirota,M.,Hirabayashi,Y.,Obata,K.,Ando.S.: "Differences in lipid composition between isolated growth cones from the forebrain and those from the brainstem in the fetal rat." Dev.Brain Res.51. 1-10 (1990)

[Publications] KATSUKI,M.et al.: "Lymphocyte infiltration into cerebellum in transgenic mice carrying human ILー2 gene." International Immunology. 1. 214-218 (1989)

[Publications] KIMURA,M.,KATSUKI,M. et al.: "Restoration of myelin formation by a single type of myelin basic protein in transgenic shiverer mice." Proc.Natl.Acad.Sci.USA. 86. 5661-5665 (1989)

[Publications] BONNEVILLE,M.,KATSUKI,M.: "Blockage of αβ Tーcell development by TCR γδ transgenes" Nature. 342. 931-934 (1989)

[Publications] KATSUKI,M. et al.: "Embroyonal tumors from transgenic mouse zygotes carrying human activated cーHaーras genes." Molecular Biology and Medecine. 6. (1989)

[Publications] FUKAMIZU,A.,KATSUKI,M. et al.: "Tissueーspecific expression of the human renin gene in transgenic mice." Biohem.Biophys.Res.Commun.165. 826-832 (1989)

[Publications] BONNEVILLE,M.,KATSUKI,M.et al.: "Transgenic mice demonstrate that epithelial homing of γδ T cells is determined by cell lineages of T cell receptor specificity" Cold Spring Harbor Symposia on Quantitaive Biology. 54. (1989)

[Publications] Sato T et al.: "Mitochondrial myopathies morphological approach to molecular abnormaltities" Bioenergitics: molecular biology biochemistry and pathologyed by Kim CH and Ozawa T.,Plenum,N.Y.(1989)

[Publications] Seki K,Sato T et al.: "Decreased activity of cytochrome c oxidase in the macular mottled mice: an immunoーelectron microscopic study" Acta Neuropath. 77. 465-471 (1989)

[Publications] Ihara Y,Namba R,Sato T,et al: "Mitochondrial encephalomyopathy(MELAS):pathological study and succussful therapy with coenzyme Q10 and idebenone" J Neurol Science. 90. 263-271 (1989)

[Publications] Sato t et al: "Defects in cytochrome c oxidase mRNA in chronic progrssive external ophthalmoplegia: detection by in situ hybridization" Ann Neurology. 26. 145-146 (1989)

[Publications] Nakamura S,Sato T et al: "Detection of mitochondrial DNA and mRNA by in situ hybridization" Acta Neuropahologica. (1990)

[Publications] 宋東林,佐藤猛,氏家寛,埜中征哉,小沢高将: "金コロイド標識免疫電子顕微鏡によるミトコンドリアミオパチ-の研究" 臨床神経. 29. 405-410 (1989)

[Publications] Kiichiro Matsumura,Teruo Shimizu,et al: "The immunological homology between two filamentous crossーlinker phosphoproteins,connectin and crossーbridge region of neurofilamentーH,is not affected by the phospherylatioin state." J.Biochem.(Tokyo). 105. 226-230 (1989)

[Publications] Kiichiro Matsumura,Teruo Shimizu,et al: "In vitro degradation of the Duchenne musocular dystrophy gene product(dystrophin)." Biomed.Res.10. 325-328 (1989)

[Publications] Kiichiro Matsumura,Teruo Shimizu,et al: "Immunological study of connectin(titin)in neuromuscular diseases;connectin is degraded extendively in Duchenne muscular dystrophy." J.Neurol.Sci.93. 147-156 (1989)

[Publications] Kazuki Hashimoto,Teruo Shimizu,et al: "Immunochemical analysis of human skeletal muscle αーactinin." J.Neurol.Sci.93. 199-209 (1989)

[Publications] Teruo Shimizu,Toru Mannen,et al: "Dense immunostainings on both neuromuscular and myotendon junctions with an anti dydtrophin monoclonal antibody." Biomed.Res.10. 405-409 (1989)

[Publications] Sinichiro Hori,Teruo Shimizu,et al: "Detection of dystrophin on twoーdimensional gel electrophoresis." Biochem.Biophys.Res.Comm.162. 726-731 (1989)

[Publications] Michito Takagi,Teruo Shimizu,et al: "Crossーreactivity of an antiーneurofilament antibody with a troponin T isoform" Muscle and nerve.12. 827-832 (1989)

[Publications] Koscak Maruyama,Teruo Shimizu,et al: "Behaviur of connectin(titin)and nebulin in skinned muscle fibres released after extreme stretch as revealed by immunoelectron microscopy." J.Muscle Res.Cell Motility. 10. 350-359 (1989)

[Publications] Takashi Murayama,Teruo Shimizu,et al: "Isolation of Dystrophin in Denatured Form from Rabbit Skeletal Muscle Myofibrils." Proc.Jap.Acad.Ser.B.65. 207-210 (1989)

[Publications] Teruo Shimizu,Toru Mannen,et al: "A chronological appearance of dystrophin on plasma membrane during human myogenesin in vivo." J.Neurol.Sci.

[Publications] Hikaru Tanaka,Teruo Shimizu,Eijiro Ozawa: "Exprssion of a Dystrophinーlike protein on the Surface Membrance of Muscle Cells in mdx Mice" Proc.Jap.Acad.Ser.B. 65. 238-241 (1989)

[Publications] Takashi Murayama,Teruo Shimizu,Kosaku Maruyama: "Isolation of Dystrophin in Denatured Form from Rabbit Skeletal Muscle Myofibrils." Proc,Jap.Acad,Ser.B.65. 207-210 (1989)

[Publications] K.Kubo,S.Ohno,S.Matsumoto,I.Yahara,K.Suzuki: "A novel yeast gene coding for a putative protein kinase" Gene. 76. 177-180 (1989)

[Publications] A.Hata,Y.Akita,Y.Konno,K.Suzuki,S.Ohno: "Direct evidence that the kinase activity of protein kinase C is involved in transcription through a TPAー responsive element" FEBS Letters. 252. 144-146 (1989)

[Publications] Y.Konno,S.Ohno,Y.Akita,H.Kawasaki.: "Enzaymatic properties of a novel phorbol ester receptor protein kinase,nPKC." J.Biochem.106. 673-678 (1989)

[Publications] Y.Homma,T.Takenawa,Y.Emori,H.Sorimachi,K.Suzuki: "Tissue and cell typeーspecific expression of mRNAs for four types of inositol phospholipidーspecific phospholipase C" Biochem.Biophys.Res.Commun.164. 406-412 (1989)

[Publications] H.Wada,S.Ohno,K.Kubo,C.Taya,S.Tsuji,Y.Yonehara,K.Suzuki: "Cell typeーspecific expression of the genes for the protein kinase C family:down regulation of mRNA for PKC alpha and nPKC epsilon" Biochem.Biophys.Res.Commun.165. 533-538 (1989)

[Publications] H.Nakajima,T.Yamasaki,T.Noguchi,T.Tanaka,N.Kono,S.Tarui: "Evidence for the alternative splicing and the alternative promotor in the human muscle phosphofructokinase gene at the 5'untranslated region." Biochem.Biophys.Res.Commun.166. 637-641 (1990)

[Publications] M.Kawachi,N.Kono,I.Mineo,Y.Yamada,S.Tarui: "Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for heridetary xanthinuria" Clin.Chim.Acta.(1990)

[Publications] I.Mineo,N.Kono,Y.Yamada,N.Hara,H.Kiyokawa,T.Hamaguchi,M.Kawachi,T.Yamasaki,H.Nakajima,M.Kuwajima,S.Tarui: "Glucose infusion abolishes the excessive ATP degradation in working muscles of a patient with McArdle disease." Muscle Nerve. (1990)

[Publications] H.Nakajima,N,Kono,T.Yamasaki,K.Hotta,M.Kawachi,M.Kuwajima,T.Noguchi,T.Tanaka,S.Tarui: "The molecular mechanism of the muscle phosphofructokinase deficiencyーーーan abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'splice site." J.Biol.Chem.

[Publications] K.Inui,et al.: "Study of Pathogenesis in Twitcher Mousu,an Enzymatically Authentic Model of Human Krabbe's Disease." J.Inher,Metb.Dis.,. 12(Suppl.2). 383-385 (1989)

[Publications] M.Taniike,et al.: "Immunohistochemical Demonstration of GM_2ーgangliosid in the ceutral nervous system of a 19ーweekーold fetas of TayーSachs disease" J.Inher,Mctab Dis.,. 12(Suppl.2). 372-374 (1989)

[Publications] M.Taniike,et al.: "Cornlatian of subcellular localozation of diseaseーspecific inclusions and splingolipid activator proteinー1(SAPー1)" Acta Histochem.Cytochem. 21(6). 565-573 (1989)

[Publications] K.Inui,et al.: "Impaired chlesterol esterification in cultured skin fibroblasto from patients with Iーcell disease" Biochem.Int.,. 18(6). 1129-1135 (1989)

[Publications] 坂田尚己ら: "生化学的診断法により診断し得たNiemannーPick病C型の1例" 日本小児科学会雑誌. 93. 2117-2122 (1989)

[Publications] M.Taniike,et al: "Ultrastructural pathology of rectum and skin biopsy specimens in lysosomal storage disease" Acta Histochem.Cytochem.

[Publications] Ida H.,Eto Y.,Maekawa K.: "Fetal GM1ーgangliosidosis:Morphological and Biochemical Studies" Brain and Development. 11. 394-398 (1989)

[Publications] Ida H.,Eto Y.,Maekawa: "Biochemical pathogenesis of demyelination in globoid cell leukodystrophy:effects of psychosine upon the oligodendroglial cells." Acta Pediatr.Jap.(1990)

[Publications] Maekawa K.: "Recent Advances in treatment and outcome of children Epilepsy" Acta Pediatr.Jap.31. 235-236 (1989)

[Publications] Sakuma S.,Maekawa K.: "Immunolohistochemical studies on somatotostain and growth hormane releasing factor neurons in the hypothulms of novel dwarf rat." BRain Research. 5. 171-173 (1989)

[Publications] Hamano S.,Maekawa: "Aicard syndrome:A report of autopsy case" Pediatric Neurology. 5. 171-173 (1989)

[Publications] Ohashi T.Eto Y.: "Molecular analysis of japanese Gaucher disease" J.Inherted Metab.Dis.12. 355-358 (1989)

[Publications] 永津俊治,吉田充男,金澤一郎,小川紀雄(編),分担執筆:小幡邦彦: "脳の神経栄養因子と先天性代謝異常,分担項目:神経の発生,再生とその促進因子" 平凡社, 261 (1989)

[Publications] 黒川正則,佐武明,宮本英七(編): "神経生化学上(蛋白質核酸酵素臨時増加),分担項目:シナプスの発生" 共立出版, 512 (1990)

[Publications] 佐藤猛: "ミトコンドリアミオパチ-“筋病理学"" 檜澤一夫,埜中征哉編,文光堂,東京, 245-255 (1989)

[Publications] 佐藤猛: "慢性進行性外眼筋麻痺症候群“筋病理学"" 檜澤一夫,埜中征哉編,文光堂,東京, 255-260 (1989)

[Publications] N.Kono,S.Tarui: "Muscle glycogenoses,In:Inherited metabolic diseases.Diagnosis and treatment" J.Fernandes,E.Bremer,J.M.Saudubray(eds)SpringerーVerlag,Heiderberg, (1990)

[Publications] N.Kono,S.Tarui: "The exercise test.In:Inherited metabolic disease.Diagnosis and treatment" J.Fernandes,E.Bremer,J.M.Saudubray(eds)SpringerーVerlag,Heiderberg, (1990)

杉田秀夫国立精神・神経センター, 神経研究所, 所長 (80009951)