PTS, 6-pyruvoyltetrahydropterin synthase, 5805

N. diseases: 89; N. variants: 40
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 AlteredExpression disease BEFREE Here, we show that PTPS, which is highly expressed in early-stage colorectal cancer, is phosphorylated at Thr 58 by AMPK under hypoxia; this phosphorylation promotes PTPS binding to LTBP1 and subsequently drives iNOS-mediated LTBP1 S-nitrosylation through proximal-coupling BH4 production within the PTPS/iNOS/LTBP1 complex. 31628042 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE PTPS Facilitates Compartmentalized LTBP1 S-Nitrosylation and Promotes Tumor Growth under Hypoxia. 31628042 2020
Mixed anxiety and depressive disorder
0.010 Biomarker disease BEFREE Self-reported information was obtained on the lifetime level of alcohol consumption, internalizing (depression, anxiety and posttraumatic stress [PTS]), and externalizing behaviors (sensation seeking, conduct problems and affiliation with delinquent peers). 31686574 2020
Malignant neoplasm of colon and/or rectum
0.010 AlteredExpression disease BEFREE Here, we show that PTPS, which is highly expressed in early-stage colorectal cancer, is phosphorylated at Thr 58 by AMPK under hypoxia; this phosphorylation promotes PTPS binding to LTBP1 and subsequently drives iNOS-mediated LTBP1 S-nitrosylation through proximal-coupling BH4 production within the PTPS/iNOS/LTBP1 complex. 31628042 2020
CUI: C0009319
Disease: Colitis
Colitis
0.010 GeneticVariation disease BEFREE We hypothesize that this PTS permits growth in gluconate, facilitates <i>E. faecalis</i> intestinal colonization, and exacerbates colitis.We generated <i>E. faecalis</i> strains containing deletions/point mutations in this PTS and measured bacterial growth and PTS gene expression in minimal medium supplemented with selected carbohydrates.We show that <i>E. faecalis</i> upregulates OG1RF_12399 transcription specifically in the presence of gluconate and that <i>E. faecalis</i> strains lacking, or harboring a single point mutation in, OG1RF_12399-12402 are unable to grow in minimal medium containing gluconate. 31036600 2019
CUI: C0016169
Disease: pathologic fistula
pathologic fistula
0.010 Biomarker phenotype BEFREE The initial ultrasound screening suggested PTS in all 24 cases, with arterialized waveform in veins in 24 cases and high-velocity turbulent flow within the fistulas in 16 cases. 30724058 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.010 Biomarker disease BEFREE In the regression model only cognitive dysfunction (HR 3.8, 95% CI 1.4-10) and the type of stem (PTS vs AS, HR 0.1, CI 0.0-0.5) were correlated with outcome. 31154885 2019
CUI: C0002622
Disease: Amnesia
Amnesia
0.010 Biomarker disease BEFREE Findings also add to the ongoing discussions about the suitability of SAD as a PTSD-relevant trauma type and about the importance of trauma-related amnesia as a PTSD symptom. 30055470 2018
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
0.010 Biomarker disease BEFREE Findings also add to the ongoing discussions about the suitability of SAD as a PTSD-relevant trauma type and about the importance of trauma-related amnesia as a PTSD symptom. 30055470 2018
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.010 Biomarker phenotype BEFREE Conclusion Surgical or interventional treatment is not advised except in exceptional cirumstances, due to variable prognosis of PTS in paediatric populations with rising incidence of paediatric venous thromboembolism, it follows that the prevalence of post-thrombotic syndrome in children may also increase. 28121229 2018
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation disease BEFREE Contrary to previous studies, we found no associations between the copy number of PTS-repeats and protection against asthma. 28957509 2017
CUI: C0037763
Disease: Spasm
Spasm
0.010 GeneticVariation phenotype BEFREE Paroxysmal tonic spasms [PTS] are common in patients with neuromyelitis optica spectrum disorder (NMOSD).1 2 In patients with demyelinating disease, PTS can significantly reduce the quality of life, limit activities of daily living and the rehabilitative process following an acute relapse 3. 28427706 2017
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II
0.010 Biomarker disease BEFREE Further 11 patients were studied after receiving serotoninergic treatment (serotonin precursors, monoamine oxidase inhibitors, selective serotonin re-uptake inhibitors): 5 with aromatic L-amino acid decarboxylase deficiency; 1 with sepiapterin reductase deficiency; 3 with dihydropteridine reductase deficiency; and 2 with 6-pyruvoyltetrahydropterin synthase deficiency. 29116116 2017
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
0.010 GeneticVariation disease BEFREE Further 11 patients were studied after receiving serotoninergic treatment (serotonin precursors, monoamine oxidase inhibitors, selective serotonin re-uptake inhibitors): 5 with aromatic L-amino acid decarboxylase deficiency; 1 with sepiapterin reductase deficiency; 3 with dihydropteridine reductase deficiency; and 2 with 6-pyruvoyltetrahydropterin synthase deficiency. 29116116 2017
Aromatic amino acid decarboxylase deficiency
0.010 GeneticVariation disease BEFREE Further 11 patients were studied after receiving serotoninergic treatment (serotonin precursors, monoamine oxidase inhibitors, selective serotonin re-uptake inhibitors): 5 with aromatic L-amino acid decarboxylase deficiency; 1 with sepiapterin reductase deficiency; 3 with dihydropteridine reductase deficiency; and 2 with 6-pyruvoyltetrahydropterin synthase deficiency. 29116116 2017
Deficiency of aromatic-L-amino-acid decarboxylase
0.010 GeneticVariation disease BEFREE Further 11 patients were studied after receiving serotoninergic treatment (serotonin precursors, monoamine oxidase inhibitors, selective serotonin re-uptake inhibitors): 5 with aromatic L-amino acid decarboxylase deficiency; 1 with sepiapterin reductase deficiency; 3 with dihydropteridine reductase deficiency; and 2 with 6-pyruvoyltetrahydropterin synthase deficiency. 29116116 2017
CUI: C0007684
Disease: Central Nervous System Infection
Central Nervous System Infection
0.010 Biomarker group BEFREE In a new report, the authors apply this approach to investigate the heterogeneity in manifestations of disease caused by Listeria monocytogenes and demonstrate that a previously uncharacterized cellobiose PTS system is involved in central nervous system infection. 26906682 2016
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria
0.010 Biomarker disease BEFREE Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria. 25689234 2015
CUI: C0238472
Disease: TOXOPLASMOSIS, CHRONIC
TOXOPLASMOSIS, CHRONIC
0.010 GeneticVariation disease BEFREE Notably, the PTS mutant can prevent acute as well as yet-incurable chronic toxoplasmosis in a mouse model, which endorses its potential clinical utility as a metabolically attenuated vaccine. 26565995 2015
CUI: C0302362
Disease: Brucella melitensis infection
Brucella melitensis infection
0.010 Biomarker disease BEFREE In vitro biochemical analyses and in vivo detection of two forms of EIIANtr (phosphorylated or not) established that the four PTS proteins of Brucella melitensis form a functional phosphorelay. 20844759 2010
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.010 GeneticVariation disease BEFREE The transition regions contained other disease-related genes including APP associated with familial Alzheimer's disease (AD1), SOD1 associated with familial amyotrophic lateral sclerosis (ALS1) and PTS associated with phenylketonuria. 11772995 2002
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.010 GeneticVariation disease BEFREE The transition regions contained other disease-related genes including APP associated with familial Alzheimer's disease (AD1), SOD1 associated with familial amyotrophic lateral sclerosis (ALS1) and PTS associated with phenylketonuria. 11772995 2002
CUI: C1863052
Disease: ALZHEIMER DISEASE, FAMILIAL, 1
ALZHEIMER DISEASE, FAMILIAL, 1
0.010 Biomarker disease BEFREE The transition regions contained other disease-related genes including APP associated with familial Alzheimer's disease (AD1), SOD1 associated with familial amyotrophic lateral sclerosis (ALS1) and PTS associated with phenylketonuria. 11772995 2002
Amyotrophic Lateral Sclerosis, Familial
0.010 GeneticVariation disease BEFREE The transition regions contained other disease-related genes including APP associated with familial Alzheimer's disease (AD1), SOD1 associated with familial amyotrophic lateral sclerosis (ALS1) and PTS associated with phenylketonuria. 11772995 2002
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.010 GeneticVariation group BEFREE In contrast to its inactivity in these cells, the K129E mutant was 2-3 fold more active than wild-type PTPS when transfected into COS-1 or the human hepatoma cell line Hep G2. 9222757 1997