The pathogenic mechanisms of severe intellectual disabiIity caused by PLEKHA5 or SLC19A3 mutations studied using mouse models of the diseases.

• Project/Area Number: 21390319
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Institute for Developmental Research, Aichi Human Service Center
• Principal Investigator: WAKAMATSU Nobuaki 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 部長 (60274198)
• Co-Investigator(Kenkyū-buntansha): YAMADA Yasukazu 愛知県心身障害者コロニー発達障害研究所, 遺伝子学部, 室長 (70191343) ; YAMADA Kenichiro 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 主任研究員 (30291173)
• Co-Investigator(Renkei-kenkyūsha): MIZUNO Seiji 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 研究員 (20393150)
• Project Period (FY): 2009 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000); Fiscal Year 2011: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2010: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000); Fiscal Year 2009: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
• Keywords: 小児神経学 / 重度知的障害 / 病因遺伝子 / PLEKHA5 / SLC19A3 / 疾患モデルマウス / 重度精神遅滞 / 遺伝子改変マウス / 精神遅滞 / ノックインマウス / Sandhoff病

Research Abstract

We identified mutations in candidate genes associated with 2 different diseases characterized by severe intellectual disability. Patient 1 had a balanced translocation t(6;12)(ql6;pl2). We analyzed the brains of homozygous Plekha5 knockout mice produced using exon trap method at the Kumamoto University. The mice survived more than 1 year, and typical pathological findings were not noted by hematoxylin-eosin staining. The results suggested that haploinsufficiency of PLEKHA5 and a fusion protein (c-terminal PLEKHA5 expression driven by SFRS18 promoter) caused by the translocation were involved in the pathogenesis of the disease in patient 1. Analysis of Plekha5 knockout mice produced by conventional or Cre/loxP system is necessary to confirm the phenotype of Plekha5 deficient mouse. Patient 2 had severe intellectual disability and specific magnetic resonance imaging findings, including abnormal density of basal ganglions and severe brain atrophy. We identified a missense mutation (E320Q) in SLC19A3 encoding thiamine (vitamin B1) transporter in the patient and generated a knock-in (NI) mouse that had the equivalent mutation as in the patient. The NI mice survived more than 1 year when fed standard mouse chow, CE-2 (Clea Japan Inc., Tokyo, Japan). However, when the homozygous NI mice were provided special feed CE-2 containing 35% vitamin B1, they died after 24 days; however, the feed did not affect the survival of wild-type and heterozygous NI mice. Theses results suggest that the patients harboring E320Q mutation in SLC19A3 have specific sensitivity for vitamin B1, and intake of high dose vitamin B1 is the possible treatment for the patients.

Research Products

• [Journal Article] Genotype-phenotype correlations in neurogenetics : Lesch-Nyhan disease as a model disorder. (2013)
  • Author(s): Fu R, Ceballos-Picot I, Torres R, Larovere L, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JQ O'Neill PJ, Jinnah HA, for the Lesch-Nyhan Disease International Study Group
  • Journal Title: Brain Volume: (in press)
  • Peer Reviewed
• [Journal Article] Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype. (2013)
  • Author(s): Yamada K, Takado Y, Kato YS, Yamada Y. Ishiguro H, Wakamatsu N
  • Journal Title: J Biochem Volume: 153 Pages: 111-119
  • NAID: 40019546596
  • Peer Reviewed
• [Journal Article] HGPRTaseの遺伝子異常と女児例の発見．特集「日本が貢献した世界的新知見」 (2013)
  • Author(s): 山田裕一
  • Journal Title: 高尿酸血症と痛風 Volume: 21 Pages: 27-32
• [Journal Article] Identification and characterization of splicing variants ofPLEKHA5 (Plekha5) during brain development. (2012)
  • Author(s): Yamada K, Nomura N, Yamano A, Yamada Y, Wakamatsu N
  • Journal Title: Gene Volume: 492 Issue: 1 Pages: 270-275
  • DOI: 10.1016/j.gene.2011.10.018
  • Peer Reviewed
• [Journal Article] MBTPS2 mutation causes BRESEK/BRESHECK syndrome. (2012)
  • Author(s): Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N
  • Journal Title: Am J Med Genet A Volume: 158A Issue: 1 Pages: 97-102
  • DOI: 10.1002/ajmg.a.34373
  • Peer Reviewed
• [Journal Article] PRPP合成酵素遺伝子PRPS1の遺伝子異常に起因する４つの症候群． (2012)
  • Author(s): 山田裕一
  • Journal Title: 痛風と核酸代謝 Volume: 36 Pages: 1-8
  • NAID: 130001921987
• [Journal Article] Hypoxanthme guanine phosphoribosyltransferase (HPRT) mutations in Asian population. (2011)
  • Author(s): Yamada Y, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S
  • Journal Title: Nucleosides Nucleotides Nucleic Acids Volume: 30 Issue: 12 Pages: 1248-1255
  • DOI: 10.1080/15257770.2011.603714
  • Peer Reviewed
• [Journal Article] Molecular analysis of X-lmked inborn errors of purine metabolism : HPRT1 and PRPS1 mutations. (2011)
  • Author(s): Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Fukushi D, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S
  • Journal Title: Nucleosides Nucleotides Nucleic Acids Volume: 30 Issue: 12 Pages: 1272-1275
  • DOI: 10.1080/15257770.2011.597369
  • Peer Reviewed
• [Journal Article] Clinical and genomic characterization of sibling with a distal duplication of chromosome 9q [9q34.1-qter]. (2011)
  • Author(s): Mizuno S, Fukushi D, Kimura R, Yamada K, Yamada Y, Kumagai T, Wakamatsu N
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 9 Pages: 2274-2280
  • DOI: 10.1002/ajmg.a.34160
  • Peer Reviewed
• [Journal Article] Characterization of a de novo balanced t(4;20)(q33;ql2) translocation in a patient with mental retardation. (2010)
  • Author(s): Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki K, Yamada Y, Mizuno S, Wakamatsu N
  • Journal Title: Am JMed Genet A Volume: 152A Issue: 12 Pages: 3057-3057
  • DOI: 10.1002/ajmg.a.33174
  • Peer Reviewed
• [Journal Article] A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. (2010)
  • Author(s): Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N
  • Journal Title: BMC Medical Genetics Volume: 11 Issue: 1 Pages: 171-171
  • DOI: 10.1186/1471-2350-11-171
  • Peer Reviewed
• [Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-Hnked inborn errors of purine metabolism. (2010)
  • Author(s): Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N
  • Journal Title: Nucleosides Nucleotides Nucleic Acids Volume: 29 Issue: 4-6 Pages: 291-294
  • DOI: 10.1080/15257771003738691
  • Peer Reviewed
• [Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. (2010)
  • Author(s): Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N
  • Journal Title: Nucleosides Nucleotides Nucleic Acids Volume: 29 Pages: 291-294
  • Peer Reviewed
• [Journal Article] Analysis of purine in purine-rich cauliflower. (2010)
  • Author(s): Yamaoka N, Kaneko K, Kudo Y, Aoki M, Yasuda M, Mawatari K, Nakagomi K, Yamada Y, Yamamoto T
  • Journal Title: Nucleosides Nucleotides Nucleic Acids Volume: 29 Pages: 518-521
  • Peer Reviewed
• [Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12)translocation in a patient with mental retardation. (2010)
  • Author(s): Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki K, Yamada Y, Mizuno S, Wakamatsu N
  • Journal Title: Am J Med Genet, A Volume: 152A Pages: 3057-3057
  • Peer Reviewed
• [Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12)translocation in a patient with mental retardation. (2010)
  • Author(s): Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N
  • Journal Title: BMC Medical Genetics Volume: 11 Pages: 171-171
  • Peer Reviewed
• [Journal Article] 核酸代謝異常(Lesch-Nyhan症候群など) (2010)
  • Author(s): 山田裕一
  • Journal Title: 小児科診療-増刊号「特集小児の治療指針」 Volume: 73 Pages: 520-522
• [Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12)translocation in a patient with mental retardation. (2010)
  • Author(s): Yamada K, Yamada Y, Wakamatsu N, et al.
  • Journal Title: Am J Med Genet (in press)
  • Peer Reviewed
• [Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. (2010)
  • Author(s): Yamada Y, Wakamatsu N, et al.
  • Journal Title: Nucleosides Nucleotides Nucleic Acids (in press)
  • Peer Reviewed
• [Journal Article] Mawatari K, Nakagomi K, Yamada Y, Yamamoto T : Content of purine nucleotides, nucleosides, and bases in purine-rich cauliflower. (2010)
  • Author(s): Yamaoka N, Yamada Y, et al.
  • Journal Title: Nucleosides Nucleotides Nucleic Acids (in press)
  • Peer Reviewed
• [Journal Article] Mowat-Wilson Syndrome : facial phenotype changing with age. Study of 19 Italian patients and review of the othersliterature. (2009)
  • Author(s): Garavelli L, Wakamatsu N, et al.
  • Journal Title: Am J Med Genet 149A Pages: 417-426
  • Peer Reviewed
• [Journal Article] Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. (2009)
  • Author(s): Lyle R, Wakamatsu N, et al.
  • Journal Title: Eur J Hum Genet 17 Pages: 454-466
  • Peer Reviewed
• [Journal Article] (2009)
  • Author(s): 山田裕一
  • Journal Title: 高尿酸血症と痛風 17巻2号「特集:尿酸産生異常の成因」,HPRT欠損症.(メディカルレビュー社) Pages: 118-123
• [Presentation] HPRT欠損症の原因となる新たなHPRTl遺伝子変異 (2013)
  • Author(s): 山田裕一, 若松延昭
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 東京
  • Year and Date: 2013-02-15
• [Presentation] 若年発症の高尿酸血症・痛風により判明したLesch-Nyhan-variantの一家系症例. (2013)
  • Author(s): 松田安史, 岸 慎治, 山内高弘, 古田 明, 上田孝典, 山田裕一, 三澤美和, 江川克哉, 中村真希子, 市田公美
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 東京
  • Year and Date: 2013-02-15
• [Presentation] 末梢神経障害と副甲状腺機能低下症を伴ったミトコンドリア三頭酵素(MTP)欠損症. (2013)
  • Author(s): 内木美紗子, 越知信彦, 加藤有介, Jamiyan Purevsuren, 山田憲一郎, 原 紳也, 木村礼子, 山田裕一, 熊谷俊幸, 山口清次, 若松延昭
  • Organizer: 東海臨床遺伝・代謝懇話会
  • Place of Presentation: 名古屋
  • Year and Date: 2013-02-12
• [Presentation] HPRT欠損症の原因となる新たなHPRT1遺伝子変異． (2013)
  • Author(s): 山田裕一
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 京王プラザホテル（東京）
• [Presentation] Mowat一Wilson症候群の原因となる新たなZEB2遺伝子変異 (2012)
  • Author(s): 山田裕一, 山田憲一郎, 福原弥生, 木村礼子, 福士大輔, 水野誠司, 黒澤健司, 岡本伸彦, 若松延昭
  • Organizer: 日本生化学会大会
  • Place of Presentation: 福岡
  • Year and Date: 2012-12-16
• [Presentation] BRESEK/BRESHECK症候群の原因遺伝子(MBTPS2)の脳発達における機能解析 (2012)
  • Author(s): 山田憲一郎, 福原弥生, 水野誠司, 内木美沙子, 木村礼子, 山田裕一, 中西圭子, 若松延昭
  • Organizer: 日本生化学会大会
  • Place of Presentation: 福岡
  • Year and Date: 2012-12-16
• [Presentation] Molecular analysis of benign familial neonatal-infantile convulsion in a Japanese family. (2012)
  • Author(s): Yamada Y, Yamada K, Fukushi D, Miura K, Nomura N, Yamano A, Kumagai T, Wakamatsu N
  • Organizer: Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: San Francisco, USA
  • Year and Date: 2012-11-09
• [Presentation] Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異 (2012)
  • Author(s): 山田裕一, 山田憲一郎, 福原弥生, 木村礼子, 福士大輔, 水野誠司, 黒澤健司, 岡本伸彦, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2012-10-26
• [Presentation] 異数性が見られる未知の知的障害の細胞遺伝学的解析. (2012)
  • Author(s): 福士大輔, 木村礼子, 山田憲一郎, 福原弥生, 内木美紗子, 石原尚子, 水野誠司, 熊谷俊幸, 山田裕一, 若松延昭
  • Organizer: (財)染色体学会
  • Place of Presentation: 旭川
  • Year and Date: 2012-10-06
• [Presentation] BRESEK/BRESHECK syndrome and IFAP syndrome are allelic disorder caused by mutation in MBTPS2. (2012)
  • Author(s): Mizuno S, Naiki M, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N
  • Organizer: European Human Genetics Conference 2012
  • Place of Presentation: Niirnberg, Germany
  • Year and Date: 2012-06-24
• [Presentation] Mowat一Wilson症候群の遺伝カウセリング症例報告 (2012)
  • Author(s): 井上佳世, 三島裕子, 大町和美, 山本悠斗, 若松延昭, 岡本伸彦
  • Organizer: 日本遺伝ガウンセリング学会
  • Place of Presentation: 松本
  • Year and Date: 2012-06-09
• [Presentation] 赤血球中ホスホリボシルピロリン酸のLC-MS/MSを用いた直接定量 (2012)
  • Author(s): 篠原佳彦, 野崎早弥子, 長谷川弘, 山田裕一, 市田公美
  • Organizer: 日本薬学会年会
  • Place of Presentation: 札幌
  • Year and Date: 2012-03-30
• [Presentation] HPRT遺伝子exonlを含む,広範囲の欠失を認めたLesch-Nyhan症候群の1家系例 (2012)
  • Author(s): 谷口敦夫, 山田裕一, 関田千恵子, 川本 学, 金子裕隆, 山中 寿
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 東京
  • Year and Date: 2012-02-18
• [Presentation] 遺伝病診療 : HPRT欠伝子解析 (2012)
  • Author(s): 山田裕一, 若松延昭
  • Organizer: シンポジウム1「核酸代謝の研究はいかに生命科学の発展に寄与したか」日本痛風・核酸代謝学会
  • Place of Presentation: 奈良
  • Year and Date: 2012-02-16
• [Presentation] BRESEK/BRESHECK syndrome and IFAP syndrome are allelic disorder caused by mutation in MBTPS2. (2012)
  • Author(s): Mizuno S
  • Organizer: European Human Genetics Conference 2012
  • Place of Presentation: Nuremberg Convention Center Ost (Nuremberg, Germany)
• [Presentation] Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異． (2012)
  • Author(s): 山田裕一
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 京王プラザホテル（東京）
• [Presentation] Molecular analysis of benign familial neonatal-infantile convulsion in a Japanese family. (2012)
  • Author(s): Yamada Y
  • Organizer: Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: MOSCONE Center (San Francisco, USA)
• [Presentation] Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異 (2012)
  • Author(s): 山田裕一
  • Organizer: 日本生化学会大会
  • Place of Presentation: 福岡国際会議場（福岡）
• [Presentation] BRESEK/BRESHECK症候群の原因遺伝子 (MBTPS2)の脳発達における機能解析． (2012)
  • Author(s): 山田憲一郎
  • Organizer: 日本生化学会大会
  • Place of Presentation: 福岡国際会議場（福岡）
• [Presentation] 運動ニューロン疾患を呈する成人型Sandhoff病のHex A活性に対するPyrimethamineの効果 (2011)
  • Author(s): 山田憲一郎, 山田裕一, 野村紀子, 山農亜里佐, 若松延昭
  • Organizer: 日本人類遺伝学会/東アジア人類遺伝学会共同大会
  • Place of Presentation: 千葉
  • Year and Date: 2011-11-10
• [Presentation] Mowat-Wilson症候群におけるZEB2遺伝子解析 (2011)
  • Author(s): 山田裕一, 山田憲一郎, 水野誠司, 西恵理子, 石原尚子, 今高城治, 鈴木由香, 鮫島希代子, 秋丸憲子, 松田圭子, 岡本伸彦, 平木洋子, 若松延昭
  • Organizer: 日本人類遺伝学会/東アジア人類遺伝学会共同大会
  • Place of Presentation: 千葉
  • Year and Date: 2011-11-10
• [Presentation] 欠失型Mowat一Wilson症候群の2症例 (2011)
  • Author(s): 富永牧子, 古谷憲好, 榎本啓典, 岩崎陽子, 今高城治, 鈴村 宏, 若松延昭, 黒渾健司
  • Organizer: 日本人類遺伝学会/東アジア人類遺伝学会共同大会
  • Place of Presentation: 千葉
  • Year and Date: 2011-11-10
• [Presentation] A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. (2011)
  • Author(s): Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N
  • Organizer: International Congress of Human Genetics and Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Montreal, Canada
  • Year and Date: 2011-10-13
• [Presentation] Molecular analysis of ZEB2 responsible for the Mowat-Wilson syndrome. (2011)
  • Author(s): Yamada Y, Yamada K, Mizuno S, Nishi E, Ishihara N, Akimaru N, Urano M, Matsuda K, Okamoto N, Hiraki Y4, Wakamatsu N
  • Organizer: International Congress of Human Genetics and Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Montreal, Canada
  • Year and Date: 2011-10-13
• [Presentation] 運動ニューロン疾患の症状を呈する成人型Sandhoff病のP-hexosaminidase活性に対するpyrimethamine効果 (2011)
  • Author(s): 山田憲一郎, 山田裕一, 若松延昭
  • Organizer: 日本生化学会大会
  • Place of Presentation: 京都
  • Year and Date: 2011-09-22
• [Presentation] 新生児・乳児期に発症する良性の家族性けいれんの遺伝子解析 (2011)
  • Author(s): 山田裕一, 山田憲一郎, 三浦清邦, 野村紀子, 山農亜里佐, 熊谷俊幸, 若松延昭
  • Organizer: 日本生化学会大会
  • Place of Presentation: 京都
  • Year and Date: 2011-09-22
• [Presentation] Mowat-Wilson症候群の成長・発達における特性と課題 (2011)
  • Author(s): 平木洋子, 山田裕一, 若松延昭
  • Organizer: 日本小児神経学会
  • Place of Presentation: 岡山
  • Year and Date: 2011-07-23
• [Presentation] Mowat-Wilson症候群の耳介形態 (2011)
  • Author(s): 水野誠司, 西恵理子, 村松友佳子, 若松延昭
  • Organizer: 日本先天異常学会学術集会
  • Place of Presentation: 東京
  • Year and Date: 2011-07-22
• [Presentation] Hypoxanthine guanine phosphoribosyltranferase (HPRT) deficiencies in Asian population. (2011)
  • Author(s): Yamada Y, Wakamatsu N, Taniguchi A, Fujimori S
  • Organizer: 14th International Symposium on Purine and Pyrimidine Metabolism in Man, "Inborn errors of metabolism/Molecular mechanisms of disease"
  • Place of Presentation: Tokyo
  • Year and Date: 2011-02-20
• [Presentation] Hypoxanthine guanine phosphoribosyltranferase (HPRT) deficiencies in Asian population. (2011)
  • Author(s): Yamada Y, Wakamatsu N, Taniguchi A, Fujimori S
  • Organizer: 14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man, "Inborn errors of metabolism/Molecular mechanisms of disease"
  • Place of Presentation: Tokyo(招待講演)
  • Year and Date: 2011-02-20
• [Presentation] Instrumental analysis of the urinary stone from the patient woth hyperuricemia. (2011)
  • Author(s): Kaneko K, Yoshida N, Okazaki K, Yamanobe T, Hachisu H, Yamaoka N, Yasuda M, Ogata N, Yamada Y, Uchida S, Fujimori S
  • Organizer: 14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Tokyo
  • Year and Date: 2011-02-20
• [Presentation] Simultaneous determination of purine and pyrimidine metabolites in HPRT-deficient cell lines. (2011)
  • Author(s): Yamaoka N, Inazawa K, Inagawa S, Fujimori S, Yasuda M, Mawatari K, Nakagomi K, Yamada Y, Kaneko K
  • Organizer: 14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Tokyo
  • Year and Date: 2011-02-20
• [Presentation] Molecular analysis of the X-linked inborn errors of purine metabolism : HPRT1 and PRPS1 mutations. (2011)
  • Author(s): Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S
  • Organizer: 14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Tokyo
  • Year and Date: 2011-02-19
• [Presentation] Molecular characterization of deletion in HPRT gene in a patient with Lesch-Nyhan syndrome. (2011)
  • Author(s): Taniguchil A, Yamada Y, Hakota M, Sekita C, Kawamoto M, Kaneko H, Yamanaka H
  • Organizer: 14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Tokyo
  • Year and Date: 2011-02-19
• [Presentation] Molecular analysis of the X-linked inborn errors of purine metabolism : HPRT1 and PRPS1 mutations. (2011)
  • Author(s): Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S
  • Organizer: 14th International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Tokyo
  • Year and Date: 2011-02-18
• [Presentation] HPRT遺伝子exon1を含む、広範囲の欠失を認めたLesch-Nyhan症候群の1家系例 (2011)
  • Author(s): 谷口敦夫, 山田裕一, 関田千恵子, 川本学, 金子裕隆, 山中寿
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 東京
  • Year and Date: 2011-02-18
• [Presentation] 多様な臨床症状と脳MRI画像を呈するSLC19A3異常症 (2011)
  • Author(s): 山田憲一郎, 三浦清邦, 原 賢寿, 鈴木基正, 中西圭子, 熊谷俊幸, 石原尚子, 山田裕一, 桑野良三, 辻 省次, 若松延昭
  • Organizer: 東海臨床遺伝・代謝懇話会
  • Place of Presentation: 名古屋
  • Year and Date: 2011-02-01
• [Presentation] Mowat-Wilson症候群典型例にみられた新しいZFHXIB遺伝子変異 (2010)
  • Author(s): 山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 秋丸憲子, 松田圭子, 岡本伸彦, 黒澤健司, 斎藤加代子, 若松延昭
  • Organizer: 日本生化学会日本分子生物学会合同大会
  • Place of Presentation: 東京
  • Year and Date: 2010-12-10
• [Presentation] 副甲状腺機能低下症と末梢神経障害を伴ったミトコンドリア三頭酵素(MTP)欠損症の病態解明 (2010)
  • Author(s): 内木美紗子, 山田憲一郎, 山田裕一, 山農亜里佐, 木村礼子, 野村紀子, Purevsuren J, 熊谷俊幸, 山口清次, 若松延昭
  • Organizer: 日本生化学会日本分子生物学会合同大会
  • Place of Presentation: 神戸
  • Year and Date: 2010-12-10
• [Presentation] Mowat-Wilson症候群典型例にみられた新しいZFHX1B遺伝子変異 (2010)
  • Author(s): 山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 秋丸憲子, 松田圭子, 岡本伸彦, 黒澤健司, 斎藤加代子, 若松延超
  • Organizer: 日本生化学会日本分子生物学会合同大会
  • Place of Presentation: 神戸
  • Year and Date: 2010-12-10
• [Presentation] Motor neuron diseaseの症状を呈する成人型Sandhoff病の病態解明 (2010)
  • Author(s): 山田憲一郎, 高堂裕平, 山田裕一, 石黒英明, 若松延昭
  • Organizer: 日本生化学会日本分子生物学会合同大会
  • Place of Presentation: 神戸
  • Year and Date: 2010-12-07
• [Presentation] Novel mutations of ZFHX1B responsible for the typical cases of Mowat-Wilson syndrome. (2010)
  • Author(s): YamadaY, Yamada K, Mizuno S, Furuya N, Matsuo M, Urano M, Hiraki Y, Kurosawa K, Saito K, Wakamatsu N
  • Organizer: Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Washington DC, USA
  • Year and Date: 2010-11-05
• [Presentation] Novel mutations of ZFHX1B responsible for the typical cases of Mowat-Wilson syndrome. (2010)
  • Author(s): Yamada Y, Yamada K, Mizuno S, Furuya N, Matsuo M, Urano M, Hiraki Y, Kurosawa K, Saito K, Wakamatsu N
  • Organizer: Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Washington DC
  • Year and Date: 2010-11-05
• [Presentation] Ectodermal dysplasia, vertebral anomaly, Hirschsprung disease, growth and mental retardation : a clinical report of a boy with BRESEK syndrome. (2010)
  • Author(s): Mizuno S, Oshiro M, Seishima M, Okamoto N, Makita Y, Wakamatsu N
  • Organizer: Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Washington DC, USA
  • Year and Date: 2010-11-04
• [Presentation] Ectodermal dysplasia, vertebral anomaly, Hirschsprung disease, growth and mental retardation : a clinical report of a boy with BRESEK syndrome. (2010)
  • Author(s): Mizuno S, Oshiro M, Seishima M, Okamoto N, Makita Y, Wakamatsu N
  • Organizer: Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Washington DC
  • Year and Date: 2010-11-04
• [Presentation] 運動ニューロン疾患の症状を呈する成人型Sandhoff病の病態解明 (2010)
  • Author(s): 山田憲一郎, 高堂裕平, 山田裕一,石 黒英明, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: さいたま
  • Year and Date: 2010-10-28
• [Presentation] Mowat-Wilson症候群典型例におけるZFHXIB遺伝子変異 (2010)
  • Author(s): 山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 黒澤健司, 斎藤加代子, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: さいたま
  • Year and Date: 2010-10-28
• [Presentation] 9q32欠失の2例-ゲシュタルトで認識可能な症候群の可能性 (2010)
  • Author(s): 水野誠司, 西恵理子, 村松友佳子, 谷合弘子, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: さいたま
  • Year and Date: 2010-10-28
• [Presentation] Mowat-Wilson症候群の遺伝型と表現型の関連-自験例から (2010)
  • Author(s): 平木洋子, 坪倉ひふみ, 夜船展子, 土方 希, 山根希代子, 田辺明男, 伊予田邦昭, 山田裕一, 若松延昭
  • Organizer: 中国四国小児科学会
  • Place of Presentation: 広島
  • Year and Date: 2010-10-28
• [Presentation] Mowat-Wilson症候群典型例におけるZFHX1B遺伝子変異 (2010)
  • Author(s): 山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 黒澤健司, 斎藤加代子, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: さいたま
  • Year and Date: 2010-10-28
• [Presentation] 塩酸ジラゼプの細胞周期・フリーラジカル産生に及ぼす影響 (2010)
  • Author(s): 山田晴生, 山田裕一, 足立哲夫, 今井裕一
  • Organizer: 腎とフリーラジカル研究会
  • Place of Presentation: 東京
  • Year and Date: 2010-10-16
• [Presentation] ダウン症候群小児における血清尿酸値の検討 (2010)
  • Author(s): 村松友佳子, 西恵理子, 谷合弘子, 山田裕一, 若松延昭, 久保田優, 水野誠司
  • Organizer: 日本小児遺伝学会学術集会
  • Place of Presentation: 盛岡
  • Year and Date: 2010-04-22
• [Presentation] ダウン症候群における血清尿酸値の検討 (2010)
  • Author(s): 村松友佳子, 山田裕一, 若松延昭, 久保田優
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 大阪
  • Year and Date: 2010-02-25
• [Presentation] ダウン症候群における血清尿酸値の検討. (2010)
  • Author(s): 村松友佳子, 山田裕一, 若松延昭, ら
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 大阪
  • Year and Date: 2010-02-25
• [Presentation] Characterization of CHD 6 associate proteins at mitosis. (2009)
  • Author(s): Yamada K, Fukushi D, Kimura R, YamadaY, Wakamatsu N
  • Organizer: 日本分子生物学会年会
  • Place of Presentation: 横浜
  • Year and Date: 2009-12-09
• [Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析 (2009)
  • Author(s): 内木美紗子, 山田憲一郎, 山田裕一, 木村礼子, 熊谷俊幸, 若松延昭
  • Organizer: 日本生化学会大会
  • Place of Presentation: 神戸
  • Year and Date: 2009-10-24
• [Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析. (2009)
  • Author(s): 内木美紗子, 山田裕一, 若松延昭, ら
  • Organizer: 日本生化学会大会
  • Place of Presentation: 東京
  • Year and Date: 2009-10-24
• [Presentation] Molecular analysis of two enzymes, HPRT and PRPP synthetase, causing X-linked inborn errors of purine metabolism. (2009)
  • Author(s): Yamada Y, Yamada K, Yamano A, Nomura N, Wakamatsu N
  • Organizer: Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Honolulu. USA
  • Year and Date: 2009-10-23
• [Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析 (2009)
  • Author(s): 内木美紗子, 山田憲一郎, 山田裕一, 木村礼子, 熊谷俊幸, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-25
• [Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析. (2009)
  • Author(s): 内木美紗子, 山田裕一, 若松延昭, ら
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-25
• [Presentation] X連鎖性プリン代謝異常症に関わる2酵素遺伝子(HPRT1,PRPS1)の変異解析. (2009)
  • Author(s): 山田裕一, 若松延昭, ら
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-25
• [Presentation] X連鎖性プリン代謝異常症に関わる2酵素遺伝子(HPRTl, PRPSl)の変異解析 (2009)
  • Author(s): 山田裕一, 山農亜里佐, 野村紀子, 木村礼子, 山田憲一郎, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. (2009)
  • Author(s): Yamada Y, Nomura N, Yamano A, Yamada K, Wakamatsu N
  • Organizer: 13th International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Stockholm, Sweden
  • Year and Date: 2009-06-22
• [Presentation] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. (2009)
  • Author(s): Yamada Y, Wakamatsu N, et al.
  • Organizer: 13^<th> International Symposium on Purine and Pyrimidine Metabolism in Man.
  • Place of Presentation: Stockholm(Sweden)
  • Year and Date: 2009-06-22
• [Presentation] Mowat -Wilson症候群の遺伝カウセリング症例報告
  • Author(s): 井上佳世
  • Organizer: 日本遺伝カウンセリング学会
  • Place of Presentation: 信州大学医学部附属病院（松本）
• [Presentation] 異数性が見られる未知の知的障害の細胞遺伝学的解析．
  • Author(s): 福士大輔
  • Organizer: 染色体学会
  • Place of Presentation: 旭川市大雪クリスタル国際会議場（旭川）
• [Presentation] 末梢神経障害と副甲状腺機能低下症を伴ったミトコンドリア三頭酵素（MTP）欠損症．
  • Author(s): 内木美紗子
  • Organizer: 東海臨床遺伝・代謝懇話会
  • Place of Presentation: 安保ホール（名古屋）
• [Book] HGPRTaseの遺伝子異常と女児例の発見.特集「日本が貢献した世界的新知見」,高尿酸血症と痛風 (2013)
  • Author(s): 山田裕一
• [Book] HPRT欠損症(Lesch-Nyhan症候群).先天代謝異常ハンドブック,II各論,12章プリン・ピリミジン代謝異常,遠藤文雄編 (2013)
  • Author(s): 山田裕一
  • Publisher: 中山書店
• [Book] 先天代謝異常ハンドブック，II各論, 12章プリン・ピリミジン代謝異常，遠藤文雄 編 (2013)
  • Author(s): 山田裕一
  • Publisher: 中山書店
• [Book] 痛風と核酸代謝36遺伝病診療：HPRT欠損症診断「核酸代謝の研究はいかに生命科学の発展に寄与したか」 (2013)
  • Author(s): 山田裕一
  • Total Pages: 134
  • Publisher: 日本痛風・核酸代謝学会
• [Book] ヒポキサンチンーグアニンホスホリボシルトランスフェラーゼ欠損症.別冊日本臨床 新領域別症候群シリーズNo.19「先天代謝異常症候群(第2版)-病因・病態研究.診断治療の進歩-」(上) (2012)
  • Author(s): 山田裕一
• [Book] PRPP合成酵素遺伝子PRPS]の遺伝子異常に起因する4つの症候群.痛風と核酸代謝 (2012)
  • Author(s): 山田裕一
• [Book] Aneuploidy and intellectual disability, in Aneuploidy in Health and Disease, Storchova Z ed, InTech-Open Access Publisher (2012)
  • Author(s): Fukushi D, Mizuno S, Yamada K, Kimura R, Yamada Y, Kumagai T, Wakamatsu N
  • Publisher: Rijeka, Croatia
• [Book] 別冊 新領域別症候群シリーズ No.19「先天代謝異常症候群（第２版）-病因・病態研究．診断治療の進歩-」（上）ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ欠損症． (2012)
  • Author(s): 山田裕一
  • Publisher: 日本臨牀
• [Book] Aneuploidy and intellectual disability. in Aneuploidy in Health and Disease. (2012)
  • Author(s): Fukushi D
  • Publisher: InTech-Open Access Publisher (Rijeka, Croatia)
• [Book] 核酸代謝異常(Lesch-Nyhan症候群など).小児科診療一増刊号「特集小児の治療指針」 (2010)
  • Author(s): 山田裕一
• [Book] 小児科診療-増刊号「特集小児の治療指針」,核酸代謝異常(Lesch-Nyhan症候群など) (2010)
  • Author(s): 山田裕一
  • Publisher: 診断と治療社(印刷中)
• [Book] HPRT欠損症.「特集:尿酸産生異常の成因」.高尿酸血症と痛風17 (2009)
  • Author(s): 山田裕一