Creatine transporter deficiency leads to increased whole body and cellular metabolism-Reference-Cited by-同舟云学术

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Creatine transporter deficiency leads to increased whole body and cellular metabolism

Published:2016-07-11 Issue:8 Volume:48 Page:2057-2065
ISSN:0939-4451
Container-title:Amino Acids
language:en
Short-container-title:Amino Acids

Author:

Perna Marla K.,Kokenge Amanda N.,Miles Keila N.,Udobi Kenea C.,Clark Joseph F.,Pyne-Geithman Gail J.,Khuchua Zaza,Skelton Matthew R.

Funder

National Institute of Child Health and Human Development

National Institutes of Health

Brain and Behavior Research Foundation

National Institute of Environmental Health Sciences

National Heart, Lung, and Blood Institute

Publisher

Springer Science and Business Media LLC

Subject

Organic Chemistry,Clinical Biochemistry,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s00726-016-2291-3.pdf

Reference35 articles.

1. Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch R, Campistol J, Ugarte M, Rodriguez-Pombo P (2011) Defining the pathogenicity of creatine deficiency syndrome. Hum Mutat 32(3):282–291. doi: 10.1002/humu.21421

2. Braissant O, Henry H, Beard E, Uldry J (2011) Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids 40(5):1315–1324. doi: 10.1007/s00726-011-0852-z

3. Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS (2006) X-linked creatine transporter (SLC6A8) mutations in about 1 % of males with mental retardation of unknown etiology. Hum Genet 119(6):604–610

4. Cunha MP, Budni J, Ludka FK, Pazini FL, Rosa JM, Oliveira A, Lopes MW, Tasca CI, Leal RB, Rodrigues AL (2015) Involvement of PI3K/Akt signaling pathway and its downstream intracellular targets in the antidepressant-like effect of creatine. Mol Neurobiol. doi: 10.1007/s12035-015-9192-4

5. DeGrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C (2002) Congenital creatine transporter deficiency. Neuropediatrics 33(5):232–238

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