Proline dehydrogenase deficiency
|
|
0.810 |
GeneticVariation
|
BEFREE |
In particular, the mutation giving rise to the substitution Leu441Pro was identified in patients suffering of schizophrenia and hyperprolinemia type I.
|
29694413 |
2018 |
Proline dehydrogenase deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
|
17135275 |
2007 |
Proline dehydrogenase deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Functional consequences of PRODH missense mutations.
|
15662599 |
2005 |
Proline dehydrogenase deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
|
12217952 |
2002 |
Proline dehydrogenase deficiency
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
Proline dehydrogenase deficiency
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
SCHIZOPHRENIA 4 (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional consequences of PRODH missense mutations.
|
15662599 |
2005 |
SCHIZOPHRENIA 4 (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.
|
11891283 |
2002 |
Hyperprolinemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Interestingly, three of the four alleles associated with or found in schizophrenia (V427M, L441P, and R453C) resulted in severe reduction of POX activity and hyperprolinemia.
|
15662599 |
2005 |
Hyperprolinemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Segregation analysis within the two families harboring respectively the PRODH deletion and the L441P mutation showed that the presence of a second PRODH nucleotide variation resulted in higher levels of prolinemia.
|
12217952 |
2002 |
Childhood Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism.
|
29694413 |
2018 |
Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism.
|
29694413 |
2018 |
Adult Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism.
|
29694413 |
2018 |
Schizophrenia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In particular, the mutation giving rise to the substitution Leu441Pro was identified in patients suffering of schizophrenia and hyperprolinemia type I.
|
29694413 |
2018 |
Glioblastoma Multiforme
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism.
|
29694413 |
2018 |