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Literature DB >> 22968583

New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.

Jiddeke M van de Kamp, Cornelis Jakobs, K Michael Gibson, Gajja S Salomons.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2012 PMID： 22968583 DOI： 10.1007/s10545-012-9537-3

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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6 in total

Review 1. Plasma membrane monoamine transporters: structure, regulation and function.

Authors: Gonzalo E Torres; Raul R Gainetdinov; Marc G Caron
Journal: Nat Rev Neurosci Date: 2003-01 Impact factor: 34.870

2. 1H MR spectroscopy of the brain in Cr transporter defect.

Authors: P E Sijens; K T Verbruggen; M Oudkerk; F J van Spronsen; R J Soorani-Lunsing
Journal: Mol Genet Metab Date: 2005-11 Impact factor: 4.797

3. Exocytotic release of creatine in rat brain.

Authors: Ligia S Almeida; Gajja S Salomons; Francois Hogenboom; Cornelis Jakobs; Anton N M Schoffelmeer
Journal: Synapse Date: 2006-08 Impact factor: 2.562

4. Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.

Authors: Olivier Braissant; Elidie Béard; Céline Torrent; Hugues Henry
Journal: Neurobiol Dis Date: 2009-10-29 Impact factor: 5.996

5. Na(+)/Cl(-)/creatine transporter activity and expression in rat brain synaptosomes.

Authors: M J Peral; M D Vázquez-Carretero; A A Ilundain
Journal: Neuroscience Date: 2009-10-03 Impact factor: 3.590

6. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

Authors: Jiddeke M van de Kamp; Petra J W Pouwels; Femke K Aarsen; Leontine W ten Hoopen; Dirk L Knol; Johannes B de Klerk; Ireneus F de Coo; Jan G M Huijmans; Cornelis Jakobs; Marjo S van der Knaap; Gajja S Salomons; Grazia M S Mancini
Journal: J Inherit Metab Dis Date: 2011-05-10 Impact factor: 4.982

6 in total

8 in total

1. Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits.

Authors: Kenea C Udobi; Nicholas Delcimmuto; Amanda N Kokenge; Zuhair I Abdulla; Marla K Perna; Matthew R Skelton
Journal: J Inherit Metab Dis Date: 2019-07-04 Impact factor: 4.982

Review 2. X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Authors: Jiddeke M van de Kamp; Grazia M Mancini; Gajja S Salomons
Journal: J Inherit Metab Dis Date: 2014-05-01 Impact factor: 4.982

3. Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8.

Authors: K C Udobi; A N Kokenge; E R Hautman; G Ullio; J Coene; M T Williams; C V Vorhees; A Mabondzo; M R Skelton
Journal: Genes Brain Behav Date: 2018-02-20 Impact factor: 3.449

4. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Authors: J Daniel Sharer; Olaf Bodamer; Nicola Longo; Silvia Tortorelli; Mirjam M C Wamelink; Sarah Young
Journal: Genet Med Date: 2017-01-05 Impact factor: 8.822

5. A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.

Authors: Qin Wang; Jingxin Yang; Yang Liu; Xingping Li; Fuwei Luo; Jiansheng Xie
Journal: BMC Med Genet Date: 2018-11-06 Impact factor: 2.103