|
Angelman Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
|
31640736 |
2019 |
|
Angelman Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Up till now, all the published studies have examined the role of the ubiquitin-protein ligase activity of E6AP in the development of AS, and it is not known what role the newly discovered coactivation functions of E6AP and ER plays in the pathology of AS.
|
29388081 |
2018 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect.
|
23256887 |
2012 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deregulation of the ubiquitin-protein ligase E6AP contributes to the development of the Angelman syndrome and to cervical carcinogenesis suggesting that the activity of E6AP needs to be under tight control.
|
21493713 |
2011 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
|
21072004 |
2010 |
|
Angelman Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Angelman syndrome (AS) is caused by reduced or absent expression of the maternally inherited ubiquitin protein ligase 3A gene (UBE3A), which maps to chromosome 15q11-q13.
|
20635355 |
2010 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations have been found in the UBE3A gene (E6-AP ubiquitin protein ligase gene) in many Angelman syndrome (AS) patients with no deletion, no uniparental disomy, and no imprinting defect.
|
15150776 |
2004 |
|
Angelman Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deficiency of the UBE3A gene that encodes E6-AP ubiquitin-protein ligase.
|
15213998 |
2004 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most patients acquire AS by one of five mechanisms: (1) a large interstitial deletion of 15q11-q13; (2) paternal uniparental disomy (UPD) of chromosome 15; (3) an imprinting defect (ID); (4) a mutation in the E3 ubiquitin protein ligase gene (UBE3A); or (5) unidentified mechanism(s).
|
11748306 |
2001 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.
|
10737998 |
2000 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To correlate the E6-AP coactivator function and ubiquitin-protein ligase functions with the AS phenotype, we expressed mutant forms of E6-AP isolated from AS patients and assessed the ability of each of these mutant proteins to coactivate PR or provide ubiquitin-protein ligase activity.
|
9891052 |
1999 |
|
Angelman Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Maternal truncation mutations in UBE3A, which encodes for E6-AP ubiquitin-protein ligase, have been shown to cause Angelman syndrome, which can also result from the absence of maternal chromosomal material from this region.
|
10089011 |
1999 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Candidate genes involved in the 15q region affected by duplication and deletion include the ubiquitin-protein ligase (UBE3A) gene responsible for Angelman syndrome and genes for three GABA(A) receptor subunits.
|
9545097 |
1998 |
|
Angelman Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
At least one other gene, the E6-associated protein ubiquitin-protein ligase (UBE3A) gene, has been implicated in AS, so the relative contribution of the GABRB3 gene alone or in combination with other genes remains to be established.
|
9763493 |
1998 |
|
Angelman Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although the gene for E6-AP ubiquitin-protein ligase (UBE3A) was mapped to the critical region for AS, evidence of expression from both parental alleles initially suggested that it was an unlikely candidate gene for this disorder.
|
8988172 |
1997 |
|
Angelman Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mapping data indicate that the entire transcriptional unit of the E6-AP ubiquitin-protein ligase (UBE3A) gene lies within the AS region.
|
9110176 |
1997 |
|
Parkinson Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
Therefore, our in vivo studies have indicated HIP2 insufficiency as a contributing factor for PD, and functionally validated blood HIP2 as a useful and reversible biomarker for PD.
|
30282965 |
2018 |
|
Parkinson Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
Recently, the genes p19 S-phase kinase-associated protein 1A (SKP1), huntingtin interacting protein-2 (UBE2K), aldehyde dehydrogenase family 1 subfamily A1 (ALDH1A1), 19 S proteasomal protein PSMC4, and heat shock 70-kDa protein 8 (HSPA8) have been found to predict the onset and progression of Parkinson's disease (PD).
|
23046827 |
2013 |
|
Parkinson Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
Stepwise multivariate logistic regression analysis identified five genes as optimal predictors of PD: p19 S-phase kinase-associated protein 1A (odds ratio [OR] 0.73; 95% confidence interval [CI] 0.60-0.90), huntingtin interacting protein-2 (OR 1.32; CI 1.08-1.61), aldehyde dehydrogenase family 1 subfamily A1 (OR 0.86; 95% CI 0.75-0.99), 19 S proteasomal protein PSMC4 (OR 0.73; 95% CI 0.60-0.89) and heat shock 70-kDa protein 8 (OR 1.39; 95% CI 1.14-1.70).
|
22651796 |
2012 |
|
Parkinson Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
The Parkinson's disease-associated ubiquitin-protein ligase, Parkin, is important in the elimination of damaged mitochondria by autophagy (mitophagy) in a multistep process.
|
20889486 |
2011 |
|
Parkinson Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Parkin, an E2-dependent ubiquitin protein ligase, carries pathogenic mutations in patients with autosomal recessive juvenile parkinsonism, but its role in the late-onset form of Parkinson's disease (PD) is not firmly established.
|
12730996 |
2003 |
|
Parkinson Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
The function of parkin as an ubiquitin protein ligase positions it as an important player in both familial and idiopathic PD.
|
12846976 |
2003 |
|
Parkinson Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
The loss of Parkin's ubiquitin-protein ligase function in familial-linked mutations suggests that this may be the cause of familial autosomal recessive Parkinson's disease.
|
11078524 |
2000 |
|
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
Multivariate Cox analysis demonstrated that UBC1 was independently associated with tumour recurrence of NMIBC (P = 0.018).
|
30467945 |
2019 |
|
Neoplasms
|
0.050 |
AlteredExpression
|
group |
BEFREE |
We show that the expression of E2-EPF ubiquitin carrier protein, which targets the principal negative regulator of hypoxia-inducible factor (HIF), von Hippel-Lindau protein, for proteasome-dependent degradation, is markedly elevated in the majority of PRCC tumors exhibiting increased HIF1α expression, and is associated with poor prognosis.
|
21281817 |
2011 |