Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
BEFREE |
These data clearly show that AGC1 impairment alters myelination not only by acting on N-acetyl-aspartate production in neurons but also on OPC proliferation and suggest new potential therapeutic targets for the treatment of AGC1 deficiency.
|
31514314 |
2019 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.
|
31403263 |
2019 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
BEFREE |
ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate.
|
28429368 |
2017 |
Hypomyelination, Global Cerebral
|
0.940 |
AlteredExpression
|
disease |
BEFREE |
Our data suggest that the cellular energetic deficit due to AGC1 impairment is associated with inappropriate aspartate levels to support neuronal proliferation when glutamine is not used as metabolic substrate, and we propose that delayed myelination in AGC1 deficiency patients could be attributable, at least in part, to neuronal loss combined with lack of NAA synthesis occurring during the nervous system development.
|
28235644 |
2017 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
BEFREE |
The mitochondrial aspartate/glutamate transporter Aralar/AGC1/Slc25a12 is critically involved in brain aspartate synthesis, and AGC1 deficiency results in a drastic fall of brain aspartate levels in humans and mice.
|
27401256 |
2017 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
MGD |
ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate.
|
28429368 |
2017 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical application of whole-exome sequencing across clinical indications.
|
26633542 |
2016 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
|
27290639 |
2016 |
Hypomyelination, Global Cerebral
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
|
24515575 |
2014 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
|
24515575 |
2014 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
MGD |
AGC1-malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway.
|
23216354 |
2013 |
Hypomyelination, Global Cerebral
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.
|
19641205 |
2009 |
Hypomyelination, Global Cerebral
|
0.940 |
GermlineCausalMutation
|
disease |
ORPHANET |
We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.
|
19641205 |
2009 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
MGD |
Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier.
|
15987682 |
2005 |
Hypomyelination, Global Cerebral
|
0.940 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hypomyelination, Global Cerebral
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hypomyelination, Global Cerebral
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|