SAKAMOTO Osamu 坂本修

Researcher Number	20333809
Other IDs
External Links
Affiliation (based on the past Project Information) *help	2011 – 2015: 東北大学, 医学(系)研究科(研究院), 准教授 2012: 東北大学, 大学病院, 講師 2007: Tohoku University, Tohoku University Hospital, Lecturer 2005 – 2006: Tohoku University, Department of Pediatrics, Hospital, Instructor, 病院・助手 2004 – 2006: 東北大学, 病院, 助手 2004: 東北大学, 大学病院, 助手 2002 – 2003: 東北大学, 医学部附属病院, 助手
Review Section/Research Field	Principal Investigator Pediatrics / Pediatrics Except Principal Investigator Pediatrics
Keywords	Principal Investigator メチルマロン酸血症 / cobalamin / methylmalonic acidemia / コバラミン / てんかん / アミノ酸代謝異常症 / 分岐鎖アミノ酸 / 新生児マススクリーニング / 自閉症 / 分岐鎖アミノ酸・ … More / MMAB / MMAA / メチルマロニルCoAムターゼ / アデノシルコバラミン / ビタミンB12 / 先天代謝異常 / 遺伝子変異 / ビオチン / プロピオニルCoAカルボキシラーゼ / PCCB / PCCA / プロピオン酸血症 … More Except Principal Investigator NICCD / SLC25A13 / neonatal intrahepatic cholestasis / Newborn screening / citrullinemia / citrin / 新生児肝内胆汁うっ滞 / 新生児スクリーニング / シトルリン血症 / シトリン / 低炭水化物食 / CTLN2 / ガラクトース血症 / シトリン欠損症 / OTC欠損症 / iPS細胞 / OTC 欠損症 / iPS 細胞 / 遺伝子修復 Less

Platform for conformation and screening of BCKDK deficiency; potentially treatable form of autism with epilepsyPrincipal Investigator
- Principal Investigator
  
  Sakamoto Osamu
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Homologous recombination-mediated gene correction in iPS cells o Ornithine transcarbamylase deficiency
- Principal Investigator
  
  TSUCHIYA Shigeru
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Screening of gene mutations for methylmalonic acidemia and serch for responsible gene of benign-type methylmalonic acidemiaPrincipal Investigator
- Principal Investigator
  
  SAKAMOTO Osamu
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Strategy for prevention of development of CTLN2 in patients with citrin deficiency
- Principal Investigator
  
  OHURA Toshihiro
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
ビタミンB12反応性メチルマロン酸血症の病因遺伝子の単離および変異解析Principal Investigator
- Principal Investigator
  
  坂本修
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Clinical manifestations of infants with neonatal intrahepatic cholestasis caused by citirn deficiency (NICCD)
- Principal Investigator
  
  OHURA Toshihiro
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
プロピオン酸血症の病因遺伝子変異の解析およびビオチンに対する反応性の検討Principal Investigator
- Principal Investigator
  
  坂本修
- Project Period (FY)
  2002 – 2003
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University

All 2015 2014 2013 2012 2007 2006 2004

All Journal Article Presentation

[Journal Article] タンデムマスによる新生児マススクリーニングで発見されたコバラミン代謝異常症C型(CblC)の一例2015
- Author(s)
  坂本修、市野井那津子、呉繁夫
- Journal Title
  
  日本マススクリーニング学会誌
  
  Volume: 25 Pages: 83-87
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25461532
[Journal Article] Phenotypic Variability and Newly Identified Mutations of the <i>IVD </i>Gene in Japanese Patients with Isovaleric Acidemia2015
- Author(s)
  Sakamoto O, Arai-Ichinoi N, Mitsubuchi H, Chinen Y, Haruna H, Maruyama H, Sugawara H, Kure S.
- Journal Title
  
  Tohoku J. Exp. Med.
  
  Volume: 236 Issue: 2 Pages: 103-106
- DOI
  10.1620/tjem.236.103
- NAID
  130005072136
- ISSN
  0040-8727, 1349-3329
- Language
  English
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-25461532
[Journal Article] シトリン欠損による新生児肝内うっ滞症(Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency, NICCD)の診断と治療2015
- Author(s)
  大浦敏博、坂本修
- Journal Title
  
  日本マススクリーニング学会誌
  
  Volume: 25 Pages: 11-15
- Data Source
  KAKENHI-PROJECT-25461532
[Journal Article] Successful treatment of cardiac failure due to cardiomyopathy in propionic acidemia by cardiac resynchronization therapy and hemodialysis in a young adult.2014
- Author(s)
  Kimura M, Wakayama　Y, Sakamoto　O, Kawano　K, Ohura　T, Kure　S.
- Journal Title
  
  Open Journal of Pediatrics
  
  Volume: 4 Issue: 01 Pages: 79-83
- DOI
  10.4236/ojped.2014.41011
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25461532
[Journal Article] Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation2014
- Author(s)
  Hiroki Sato, Mitsugu Uematsu, Wakaba Endo, Tojo Nakayam, Tomoko Kobayashi, Naomi Hino-Fukuyo, Osamu Sakamoto, Haruo Shintaku, Shigeo Kure
- Journal Title
  
  Brain Dev.
  
  Volume: 36 Issue: 3 Pages: 268-271
- DOI
  10.1016/j.braindev.2013.04.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25461532
[Journal Article] Clinical characteristics and mutation analysis of propionic acidemia in Thailand2014
- Author(s)
  Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P.
- Journal Title
  
  World Journal of Pediatrics
  
  Volume: 10 Issue: 1 Pages: 64-68
- DOI
  10.1007/s12519-014-0454-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461532
[Journal Article] Reduction in Glutamine/Glutamate Levels in the Cerebral Cortex after Adrenocorticotropic Hormone Therapy in Patients with West Syndrome2014
- Author(s)
  Munakata M, Togashi N, Sakamoto O, Haginoya K, Kobayashi Y, Onuma A, Iinuma K, Kure S.
- Journal Title
  
  Tohoku J. Exp. Med.
  
  Volume: 232 Issue: 4 Pages: 277-283
- DOI
  10.1620/tjem.232.277
- NAID
  130004460120
- ISSN
  0040-8727, 1349-3329
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461532
[Journal Article] Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake2013
- Author(s)
  Nakayama T, Tanaka S, Uematsu M, Kikuchi A, Hino-Fukuyo N, Morimoto T, Sakamoto O, Tsuchiya S, Kure S
- Journal Title
  
  Brain Dev
  
  Volume: (In press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659511
[Journal Article] Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations2013
- Author(s)
  Kitazawa H, Moriya K, Niizuma H, Kawano K, Saito-Nanjo Y, Uchiyama T, Rikiishi T, Sasahara Y, Sakamoto O, Setoguchi Y, Kure S
- Journal Title
  
  Eur J Pediatr
  
  Volume: 172(7) Issue: 7 Pages: 953-7
- DOI
  10.1007/s00431-013-1977-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791147, KAKENHI-PROJECT-25461532, KAKENHI-PROJECT-25860836
[Journal Article] Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia.2013
- Author(s)
  Imataka G, Sakamoto O, Yamanouchi H, Yoshihara S, Omura-Hasegawa Y, Tajima G, Arisaka O
- Journal Title
  
  Cell Biochem Biophys
  
  Volume: 67(1) Issue: 1 Pages: 185-7
- DOI
  10.1007/s12013-013-9532-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25282221, KAKENHI-PROJECT-25461532
[Journal Article] Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages2012
- Author(s)
  Niizuma H, Uematsu M, Sakamoto O, Uchiyama T, Horino S, Onuma M, Matsuhashi T, Rikiishi T, Sasahara Y, Minegishi M, Tsuchiya S.
- Journal Title
  
  Pediatr Transplant
  
  Volume: 16(2) Issue: 2
- DOI
  10.1111/j.1399-3046.2011.01539.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22591150, KAKENHI-PROJECT-23659511, KAKENHI-PROJECT-23791147
[Journal Article] Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.2007
- Author(s)
  Sakamoto O, et. a1.
- Journal Title
  
  Journal of Human Genetics 52
  
  Pages: 48-55
- NAID
  10018515094
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591137
[Journal Article] Mutation and haplotype analyses of the MUT gene in Japanese patients with methvlmalonic acidemia.2007
- Author(s)
  Sakamoto O, et al.
- Journal Title
  
  Journal of Human Genetics 52
  
  Pages: 48-55
- Data Source
  KAKENHI-PROJECT-18591137
[Journal Article] Mutation and haplotype analyses of the MUT gene in Japanese Patients with methylmalonic acidemia2007
- Author(s)
  Sakamoto O, et. al.
- Journal Title
  
  J Hum Genet 52
  
  Pages: 48-55
- NAID
  10018515094
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591137
[Journal Article] NICCD-シトリン欠損による新生児肝内胆汁うっ滞症-2007
- Author(s)
  坂本修、大浦敏博
- Journal Title
  
  周産期医学 37
  
  Pages: 1346-1349
- Data Source
  KAKENHI-PROJECT-18591138
[Journal Article] Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.2006
- Author(s)
  Coman D, Huang J, McTaggart S, Sakamoto O, et al.
- Journal Title
  
  Pediatr Nephrol 21
  
  Pages: 270-273
- Data Source
  KAKENHI-PROJECT-16790565
[Journal Article] Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B12-responsive methylmalonic acidemia2004
- Author(s)
  Yang X, Sakamoto O et al.
- Journal Title
  
  Molecular Genetics and Metabolism 82
  
  Pages: 329-333
- Data Source
  KAKENHI-PROJECT-16790565
[Presentation] タンデムマスによる新生児マススクリーニングで発見されたコバラミン代謝異常症C型(CblC)の一例2015
- Author(s)
  坂本修、市野井那津子、呉繁夫
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪（大阪国際会議場）
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-25461532

1. KURE Shigeo (10205221)

# of Collaborated Projects: 3 results

# of Collaborated Products: 2 results
2. OHURA Toshihiro (10176828)

# of Collaborated Projects: 3 results

# of Collaborated Products: 3 results
3. TSUCHIYA Shigeru (30124605)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
4. UCHIYAMA Toru (10436107)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. UEMATSU Mitsugu (90400316)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. KOBAYASHI Keiko (70108869)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. KONDO Yoshiaki (00221250)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. YAMAGUCHI Seiji (60144044)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. ONUMA Masaei

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 峯岸正好

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 小林朋子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 山内秀雄

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

SAKAMOTO Osamu 坂本 修

Research Projects

Research Products

Co-Researchers

Platform for conformation and screening of BCKDK deficiency; potentially treatable form of autism with epilepsyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Homologous recombination-mediated gene correction in iPS cells o Ornithine transcarbamylase deficiency

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Screening of gene mutations for methylmalonic acidemia and serch for responsible gene of benign-type methylmalonic acidemiaPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Strategy for prevention of development of CTLN2 in patients with citrin deficiency

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

ビタミンB12反応性メチルマロン酸血症の病因遺伝子の単離および変異解析Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Clinical manifestations of infants with neonatal intrahepatic cholestasis caused by citirn deficiency (NICCD)

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

プロピオン酸血症の病因遺伝子変異の解析およびビオチンに対する反応性の検討Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] タンデムマスによる新生児マススクリーニングで発見されたコバラミン代謝異常症C型(CblC)の一例2015

Author(s)

Journal Title

Data Source

[Journal Article] Phenotypic Variability and Newly Identified Mutations of the <i>IVD </i>Gene in Japanese Patients with Isovaleric Acidemia2015

Author(s)

Journal Title

DOI

NAID

ISSN

Language

Data Source

[Journal Article] シトリン欠損による新生児肝内うっ滞症(Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency, NICCD)の診断と治療2015

Author(s)

Journal Title

Data Source

[Journal Article] Successful treatment of cardiac failure due to cardiomyopathy in propionic acidemia by cardiac resynchronization therapy and hemodialysis in a young adult.2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Clinical characteristics and mutation analysis of propionic acidemia in Thailand2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Reduction in Glutamine/Glutamate Levels in the Cerebral Cortex after Adrenocorticotropic Hormone Therapy in Patients with West Syndrome2014

Author(s)

Journal Title

SAKAMOTO Osamu 坂本修