|
Diabetes Mellitus, Experimental
|
0.200 |
Biomarker
|
disease |
RGD |
Production of L-tryptophan-derived catabolites in hepatocytes from streptozotocin-induced diabetic rats.
|
19169727 |
2009 |
|
Diabetes Mellitus, Experimental
|
0.200 |
Therapeutic
|
disease |
RGD |
Expression of rat hepatic 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase is affected by a high protein diet and by streptozotocin-induced diabetes.
|
12042425 |
2002 |
|
Kidney Failure
|
0.200 |
Biomarker
|
disease |
RGD |
We hypothesize the following ideas: that increased serum L-kynurenine concentrations are mainly due to the increased TDO and decreased kynureninase activities in the liver and increased serum Quin concentrations are due to the decreased ACMSDase activities in the body after renal insufficiency.
|
10966936 |
2000 |
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Thyroxine measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
|
30367059 |
2018 |
|
Diastolic blood pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
|
30224653 |
2018 |
|
Hematocrit procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
|
28017375 |
2017 |
|
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.
|
25918132 |
2015 |
|
Polysomnography
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
|
23251661 |
2012 |
|
Aspartate aminotransferase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
|
23251661 |
2012 |
|
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Herein, we investigated the effect of top three PD-associated genetic variants related to amino acid catabolism in Caucasians listed on the top risk loci identified by meta-analysis of genome-wide association studies in PDGene database, including aminocarboxymuconate-semialdehyde decarboxylase- (<i>ACMSD-</i>) transmembrane protein 163 (<i>TMEM163</i>) rs6430538, methylcrotonyl-CoA carboxylase 1 (<i>MCCC1</i>) rs12637471, and branched-chain ketoacid dehydrogenase kinase- (<i>BCKDK-</i>) syntaxin 1B (<i>STX1B</i>) rs14235, by genotyping 599 Taiwanese patients with PD and 598 age-matched control subjects.
|
30719275 |
2019 |
|
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
In the meta-analysis study no loci reached a genome-wide significance level (P<5xE-8), but a suggestive association (P-value = 1.04E-6) between rs6430538 (ACMSD/TMEM163) and an increased risk of PD was found.
|
31430546 |
2019 |
|
Parkinson Disease
|
0.080 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss the genetic findings in light of the functions of ACMSD and its potential involvement in PD pathogenesis.
|
29103054 |
2017 |
|
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that not only common genetic variability but also rare variants in ACMSD alone or in combination with other risk factors might increase the risk of PD.
|
28671144 |
2017 |
|
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We used 2 PD case-control data sets (Washington University and the Parkinson's Progression Markers Initiative) to determine whether polymorphisms located at the GWAS top hits (GBA, ACMSD/TMEM163, STK39, MCCC1/LAMP3, GAK/TMEM175, SNCA, and MAPT) show association with AAO or motor progression.
|
26601739 |
2016 |
|
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We replicate PD association (uncorrected p-value < 0.05) at the following loci: ACMSD/TMEM163, MAPT, STK39, MIR4697, and SREBF/RAI1.
|
27393345 |
2016 |
|
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
A meta-analysis of datasets from five Parkinson's disease GWAS from the USA and Europe found 11 loci that surpassed the threshold for genome-wide significance (p<5×10(-8)), and five were newly identified loci (ACMSD, STK39, MCCC1/LAMP3, SYT11 and CCDC62/HIP1R).
|
24631562 |
2014 |
|
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
The first large-scale meta-analysis of published genome-wide association studies (GWAS) in Parkinson's disease (PD) identified 5 new genetic loci (ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R).
|
24312176 |
2013 |
|
Parkinsonian Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Further support for this comes from the recent identification of a disease-segregating stop codon mutation in ACMSD in a family with Parkinsonism, and a missense mutation in the ACMSD gene predicted to disrupt enzyme function in an individual with typical PD.
|
29103054 |
2017 |
|
Parkinsonian Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
ACMSD is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
|
23955123 |
2013 |
|
Alzheimer's Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here, in order to discover potential AD-related loci, we investigated the association between late-onset AD (LOAD) susceptibility and nine single-nucleotide polymorphisms (SNPs) (rs11724635 of BST1, rs12637471 of MCCC1, rs15553999 of TMEM229, rs17649553 of MAPT, rs34311866 of TMEM175-GAK-DGKQ, rs356182 of SNCA, rs6430538 of ACMSD-TMEM163, rs76904798 of LRRK2 and rs823118 of RAB7L1-NUCKS1) which were reported to have genome-wide significant associations with PD risk in a recent Genome Wide Association Study performed among white population.
|
26738859 |
2017 |
|
Sporadic Parkinson disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.
|
28671144 |
2017 |
|
Epilepsy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Due to the previous association of ACMSD deficiency with the development of epileptic seizures, we concluded that the identified nonsense mutation in the ACMSD gene, which encodes for a critical enzyme of the kynurenine pathway of the tryptophan metabolism, is the disease-segregating mutation most likely to be responsible for the phenotype described in our family.
|
23955123 |
2013 |
|
nervous system disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
The 2q21 region also harbors RAB3GAP1 and ACMSD; those are involved in neurologic disorders.
|
23209189 |
2013 |
|
Cerebral cortex myoclonus
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
ACMSD is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
|
23955123 |
2013 |