|
Anemia, Hemolytic
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene triosephosphate isomerase (TPI) lead to a severe multisystem condition that is characterized by hemolytic anemia, a weakened immune system, and significant neurologic symptoms such as seizures, distal neuropathy, and intellectual disability.No effective therapy is available.
|
31075491 |
2019 |
|
Anemia, Hemolytic
|
0.480 |
Biomarker
|
disease |
BEFREE |
Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency.
|
29720471 |
2018 |
|
Anemia, Hemolytic
|
0.480 |
Biomarker
|
disease |
BEFREE |
Triosephosphate isomerase (TPI) deficiency is a poorly understood disease characterized by hemolytic anemia, cardiomyopathy, neurologic dysfunction, and early death.
|
27031109 |
2016 |
|
Anemia, Hemolytic
|
0.480 |
Biomarker
|
disease |
BEFREE |
We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment.
|
20374271 |
2010 |
|
Anemia, Hemolytic
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
The disease is caused exclusively by specific missense mutations affecting the TPI protein and clinically features hemolytic anemia, adult-onset neurological impairment, degeneration, and reduced longevity.
|
18458110 |
2008 |
|
Anemia, Hemolytic
|
0.480 |
Biomarker
|
disease |
BEFREE |
Of the several well-established glycolytic enzyme deficiencies, triosephosphate isomerase (TPI) deficiency is the only one in which haemolytic anaemia is coupled with progressive, severe neurological disorder.
|
12023819 |
2002 |
|
Anemia, Hemolytic
|
0.480 |
Biomarker
|
disease |
BEFREE |
Clinical TPI deficiency is a rare autosomal recessive multi-system disorder characterised by non-spherocytic haemolytic anaemia, recurrent infections, cardiomyopathy, severe and fatal neuromuscular dysfunctions.
|
9850739 |
1998 |
|
Anemia, Hemolytic
|
0.480 |
Biomarker
|
disease |
CTD_human |
Triose-phosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketol-isomerase, EC 5.3.1.1) deficiency is a recessive disorder that results in hemolytic anemia and neuromuscular dysfunction.
|
2876430 |
1986 |
|
Anemia, Hemolytic
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Enzymopathy
|
0.330 |
Biomarker
|
group |
BEFREE |
Triose phosphate isomerase (TPI) deficiency glycolytic enzymopathy is a progressive neurodegenerative condition that remains poorly understood.
|
18458110 |
2008 |
|
Enzymopathy
|
0.330 |
GeneticVariation
|
group |
BEFREE |
Biochemical studies demonstrate that mutation of this glycolytic enzyme gene does not result in a bioenergetic deficit, suggesting an alternate cause of enzymopathy associated with TPI impairment.
|
16980388 |
2006 |
|
Enzymopathy
|
0.330 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency.
|
11698297 |
2001 |
|
Enzymopathy
|
0.330 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.
|
7485100 |
1995 |
|
Enzymopathy
|
0.330 |
AlteredExpression
|
group |
BEFREE |
Both parents and some other family members had moderately reduced erythrocyte TPI activity in accordance with the autosomal recessive mode of inheritance in this enzymopathy.
|
669702 |
1978 |
|
Alzheimer's Disease
|
0.320 |
Biomarker
|
disease |
BEFREE |
To assess the safety, tolerability, and pharmacodynamics of the microtubule stabilizer TPI-287 (abeotaxane) in Alzheimer disease (AD) or the 4-repeat tauopathies (4RT) progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS).
|
31710340 |
2019 |
|
Presenile dementia
|
0.320 |
Biomarker
|
disease |
BEFREE |
<b>Objectives:</b> To explore the acceptability of telepresence robots in dementia care from the perspectives of people with dementia, family carers, and health professionals/trainees, and investigate the utility of a social presence assessment tool, the Modified-Temple Presence Inventory (Modified-TPI), for people with dementia.
|
30450924 |
2019 |
|
Presenile dementia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
More falls (3 in the placebo group vs 11 in the TPI-287 group) and a dose-related worsening of dementia symptoms (mean [SD] in the CDR plus NACC FTLD-SB [Clinical Dementia Rating scale sum of boxes with frontotemporal dementia measures], 0.5 [1.8] in the placebo group vs 0.7 [1.6] in the TPI-287 group; median difference, 1.5 [95% CI, 0-2.5]; P = .03) were seen in patients with 4RT.
|
31710340 |
2019 |
|
Alzheimer's Disease
|
0.320 |
Biomarker
|
disease |
BEFREE |
One of the most strongly nitrotyrosinated proteins in AD is the triosephosphate isomerase (TPI) enzyme which regulates glycolytic flow, and its efficiency decreased when it is nitrotyrosinated.
|
24614897 |
2014 |
|
Alzheimer's Disease
|
0.320 |
Biomarker
|
disease |
CTD_human |
Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD.
|
19374891 |
2009 |
|
Presenile dementia
|
0.320 |
Biomarker
|
disease |
CTD_human |
Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD.
|
19374891 |
2009 |
|
Adenocarcinoma of lung (disorder)
|
0.310 |
Biomarker
|
disease |
CTD_human |
c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma.
|
27602772 |
2016 |
|
Schizophrenia
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
When we analyzed the genetic polymorphisms of the single nucleotide polymorphisms (SNPs) of their human orthologous genes in a Korean population, the promoter SNPs of CKB and TPI1 were weakly associated with schizophrenia.
|
22623148 |
2012 |
|
Schizophrenia
|
0.310 |
Biomarker
|
disease |
PSYGENET |
When we analyzed the genetic polymorphisms of the single nucleotide polymorphisms (SNPs) of their human orthologous genes in a Korean population, the promoter SNPs of CKB and TPI1 were weakly associated with schizophrenia.
|
22623148 |
2012 |
|
Triose phosphate isomerase deficiency
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
|
20374271 |
2010 |
|
Adenocarcinoma of lung (disorder)
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
Antioxidant enzyme AOE372, ATP synthase subunit d (ATP5D), beta1,4-galactosyltransferase, cytosolic inorganic pyrophosphatase, glucose-regulated M(r) 58,000 protein, glutathione-S-transferase M4, prolyl 4-hydroxylase beta subunit, triosephosphate isomerase, and ubiquitin thiolesterase (UCHL1) were identified as being significantly overexpressed in lung adenocarcinomas.
|
12114434 |
2002 |