Title
|
|
|
|
Metabonomics adds a new dimension to fragile X syndrome
| |
Author
|
|
|
|
| |
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. |
| |
Language
|
|
|
|
English
| |
Source (journal)
|
|
|
|
Genome medicine
| |
Publication
|
|
|
|
2011
| |
ISSN
|
|
|
|
1756-994X
| |
DOI
|
|
|
|
10.1186/GM296
| |
Volume/pages
|
|
|
|
3
:12
(2011)
, p. 80
| |
Article Reference
|
|
|
|
80
| |
ISI
|
|
|
|
000208627400080
| |
Medium
|
|
|
|
E-only publicatie
| |
Full text (Publisher's DOI)
|
|
|
|
| |
Full text (open access)
|
|
|
|
| |
|