Spastic Paraplegia, Hereditary
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1).
|
30929741 |
2019 |
Spastic Paraplegia, Hereditary
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We identified three novel heterozygous loss of function mutations (c.425_426delAG, c.312delC, and c.535G>T) in the UBAP1 gene as the genetic cause of a new type of HSP (SPG80).
|
31515522 |
2019 |
Spastic Paraplegia, Hereditary
|
0.340 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
|
30929741 |
2019 |
Spastic Paraplegia, Hereditary
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We also identified two UBAP1 frameshift mutations, c.324_325delCA (p.H108Qfs*10) and c.425_426delAG (p.K143Sfs*15), in two unrelated families from an additional 38 Chinese pedigrees with autosomal dominant hereditary spastic paraplegias and lacking mutations in known causative genes.
|
31203368 |
2019 |
Spastic Paraplegia, Hereditary
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
|
31696996 |
2020 |
Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Henoch-Schoenlein Purpura
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1).
|
30929741 |
2019 |
Henoch-Schoenlein Purpura
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We identified three novel heterozygous loss of function mutations (c.425_426delAG, c.312delC, and c.535G>T) in the UBAP1 gene as the genetic cause of a new type of HSP (SPG80).
|
31515522 |
2019 |
Acute myocardial infarction
|
0.020 |
Biomarker
|
disease |
BEFREE |
Patients with ACS were randomly assigned to the ACS group (subdivided into unstable angina pectoris [UAP] and acute myocardial infarction [AMI]).
|
24709882 |
2014 |
Acute myocardial infarction
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
To investigate the expression of ubiquitin in monocytes and lymphocytes isolated from patients at different stages of CAD, 120 patients with CAD (40 with acute myocardial infarction [AMI], 40 with unstable angina pectoris [UAP] and 40 with stable angina pectoris [SAP]) were selected; 40 patients with normal coronary arteries served as controls.
|
19094431 |
2009 |
Nasopharyngeal carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
The result suggests that UBAP1 might be a potential effective diagnosis candidate for NPC and decreased expression of UBAP1 protein is a possible point of dysfunction along the pathogenesis pathway for NPC that may contribute to malignant transformation.
|
16226037 |
2006 |
Nasopharyngeal carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
BRD3 and UBAP1 are both involved in NPC carcinogenesis as confirmed through our previous studies and PTEN is a crucial tumor suppressor in many tumor types.
|
20053927 |
2010 |
Angina, Unstable
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To investigate the expression of ubiquitin in monocytes and lymphocytes isolated from patients at different stages of CAD, 120 patients with CAD (40 with acute myocardial infarction [AMI], 40 with unstable angina pectoris [UAP] and 40 with stable angina pectoris [SAP]) were selected; 40 patients with normal coronary arteries served as controls.
|
19094431 |
2009 |
Heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
The primary endpoint of the study was major adverse cardiovascular and cerebrovascular events (MACCEs), defined as a composite of cardiovascular death, myocardial infarction, stroke, ischemia-driven revascularization, or hospitalization for UAP or heart failure.
|
30819182 |
2019 |
Congestive heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
The primary endpoint of the study was major adverse cardiovascular and cerebrovascular events (MACCEs), defined as a composite of cardiovascular death, myocardial infarction, stroke, ischemia-driven revascularization, or hospitalization for UAP or heart failure.
|
30819182 |
2019 |
Chagas Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Also, Pep5-binding proteins were identified by mass spectrometry, including calmodulin-ubiquitin-associated protein, which is related to the virulence and parasitemia of <i>T. cruzi</i> Taken together, these data suggest that Pep5 can be used as a novel alternative for the treatment of Chagas disease.
|
30833431 |
2019 |
Parasitemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Also, Pep5-binding proteins were identified by mass spectrometry, including calmodulin-ubiquitin-associated protein, which is related to the virulence and parasitemia of <i>T. cruzi</i> Taken together, these data suggest that Pep5 can be used as a novel alternative for the treatment of Chagas disease.
|
30833431 |
2019 |
Stable angina
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To investigate the expression of ubiquitin in monocytes and lymphocytes isolated from patients at different stages of CAD, 120 patients with CAD (40 with acute myocardial infarction [AMI], 40 with unstable angina pectoris [UAP] and 40 with stable angina pectoris [SAP]) were selected; 40 patients with normal coronary arteries served as controls.
|
19094431 |
2009 |
Acute Chest Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Serum MMP-9 and CRP levels were significantly higher in the ACS group compared with controls (48.55 ± 14.22 versus 23.14 ± 0.62 ng/ml; 4.88 ± 1.76 versus 1.26 ± 0.19 ng/ml, respectively), and significantly higher in the AMI compared with the UAP subgroup (58.13 ± 7.24 versus 31.77 ± 3.61 ng/ml; 5.80 ± 1.46 versus 3.27 ± 0.83 ng/ml, respectively).
|
24709882 |
2014 |
Frontotemporal Lobar Degeneration
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our data for the first time identifies UBAP1 as a genetic risk factor for FTLD and suggests a mechanistic relationship between this protein and TDP-43.
|
19217189 |
2009 |
Non STEMI
|
0.010 |
Biomarker
|
disease |
BEFREE |
The circulating concentration of IL-37 was remarkably higher in the ACS patients than in either of the normal or SAP patients (p<0.05), and especially higher in the AMI patients including STEMI and non-STEMI than in the angina pectoris subjects no matter SAP or UAP (p<0.05).
|
28237549 |
2017 |
Spastic paraplegia 10, autosomal dominant
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our study provides genetic and biochemical evidence that mutations in UBAP1 can cause pure autosomal dominant spastic paraplegia.
|
31203368 |
2019 |
Coronary Artery Disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
At both the mRNA and protein levels, ubiquitin expression was higher in patients with CAD than in controls, and patients with AMI had a much higher expression of ubiquitin (at both the mRNA and protein levels) than those with SAP and UAP.
|
19094431 |
2009 |
GRN-related frontotemporal dementia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration.
|
19217189 |
2009 |
Babinski Reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|