Title |
Metabonomics adds a new dimension to fragile X syndrome
|
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Published in |
Genome Medicine, December 2011
|
DOI | 10.1186/gm296 |
Pubmed ID | |
Authors |
Inge Heulens, Sien Braat, R Frank Kooy |
Abstract |
Fragile X syndrome is the most common cause of inherited intellectual disability, but the underlying pathophysiology is complex and effective treatments are lacking. In a recent study of fragile X mental retardation 1 (Fmr1) knockout mice, the metabolic profile of the fragile X brain was determined using proton high-resolution magic angle spinning nuclear magnetic resonance spectroscopy. This analysis revealed deficiencies in four metabolic categories: neurotransmission, osmoregulation, energy metabolism and oxidative stress response. Abnormalities in the metabolic phenotype were linked to the fragile X mental retardation protein using an integrated metabolome and interactome mapping approach, allowing a global picture of the disorder to emerge. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 32% |
Student > Bachelor | 3 | 12% |
Researcher | 3 | 12% |
Student > Doctoral Student | 2 | 8% |
Student > Master | 2 | 8% |
Other | 4 | 16% |
Unknown | 3 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 9 | 36% |
Biochemistry, Genetics and Molecular Biology | 4 | 16% |
Neuroscience | 2 | 8% |
Nursing and Health Professions | 1 | 4% |
Medicine and Dentistry | 1 | 4% |
Other | 1 | 4% |
Unknown | 7 | 28% |