Pubmed abstracts for Protein-Protein Interaction search result :

Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
We identified a number of positive interacting clones that encode ubiquitin protein ligase E3A ( UBE3A ) . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
E 6 interacts with a 100 kDa cellular protein , termed E 6 associated protein ( E6AP ; also called ubiquitin protein ligase E3A or UBE3A ) , which functions as an ubiquitin protein ligase . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Approximately 70 % of patients show a deletion involving the maternally inherited chromosome 15q11 q 13 , encompassing a cluster of gamma aminobutyric acid receptor subunit genes , 3 % show chromosome 15 paternal uniparental disomy ( UPD ) , 1 % harbor a mutation in the imprinting center ( a transcriptional regulatory element ) , and 6 % harbor intragenic mutations of the ubiquitin protein ligase E3A ( UBE3A ) gene . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Although mutations in UBE3A cause AS , indicating that maternal specific expression of UBE3A is essential for a normal phenotype , evidence for maternal specific expression of UBE3A has been lacking . ^^^ The major phenotypic features of AS correlate with the loss of maternal specific expression of Ube3a in hippocampus and cerebellum as revealed in the mouse model . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Individuals with AS fail to inherit a normal active maternal copy of the gene encoding ubiquitin protein ligase E3A ( UBE3A ) . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The mouse ortholog of the Prader Willi / Angelman syndrome imprinted domain contains several paternal specific transcripts and the maternally expressed gene encoding ubiquitin protein ligase E3A ( Ube3a ) . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
We have found that a 15q inversion inherited by an AS child from her normal mother disrupts the 5 ' end of the UBE3A ( E 6 AP ) gene , the product of which functions in protein ubiquitination . ^^^ We have looked for novel UBE3A mutations in nondeletion / non UPD / non imprinting mutation ( NDUI ) AS patients and have found one patient who is heterozygous for a 5 bp de novo tandem duplication . ^^^ Our results demonstrate that UBE3A mutations are one cause of AS and indicate a possible abnormality in ubiquitin mediated protein degradation during brain development in this disease . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Although the gene for E 6 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 . ^^^ Because attempts to identify any novel maternally expressed transcripts were unsuccessful and because the UBE3A gene remained within a narrowed AS critical region , we searched for mutations in UBE3A in 11 AS patients without known molecular defects ( large deletion , uniparental disomy , or imprinting mutation ) . ^^^ This analysis tested the possibility that deficiency of an undefined , maternally expressed transcript or isoform of the UBE3A gene could cause AS . ^^^ The de novo truncating mutations indicate that UBE3A is the AS gene and suggest the possibility of a maternally expressed gene product in addition to the biallelically expressed transcript . ^^^ Intragenic mutation of UBE3A in AS is the first example of a genetic disorder of the ubiquitin dependent proteolytic pathway in mammals . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Mapping data indicate that the entire transcriptional unit of the E 6 AP ubiquitin protein ligase ( UBE3A ) gene lies within the AS region . ^^^ Recent identification of de novo truncating mutations in UBE3A taken with these observations indicates that mutations in UBE3A can lead to AS and suggests that this locus may encode both imprinted and biallelically expressed products . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
A candidate AS gene ( UBE3A ) has very recently been identified . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The E 6 AP ubiquitin ligase ( human / mouse gene UBE3A / Ube3a ) promotes the degradation of p 53 in association with papilloma E 6 protein , and maternal deficiency causes human Angelman syndrome ( AS ) . ^^^ We found that the phenotype of mice with maternal deficiency ( m / p+ ) for Ube3a resembles human AS with motor dysfunction , inducible seizures , and a context dependent learning deficit . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
We compared epilepsy phenotypes with genotypes of Angelman syndrome ( AS ) , including chromosome 15q11 13 deletions ( class 1 ) , uniparental disomy ( class 2 ) , methylation imprinting abnormalities ( class 3 ) , and mutation in the UBE3A gene ( class 4 ) . ^^^ Loss of function UBE3A mutations , uniparental disomy , or methylation imprint abnormalities in AS are associated with relatively mild epilepsy . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Angelman syndrome ( AS ) is caused by chromosome 15q11 q 13 deletions of maternal origin , by paternal uniparental disomy ( UPD ) 15 , by imprinting defects , and by mutations in the UBE3A gene . ^^^ Here we describe UBE3A coding region mutations detected by SSCP analysis in 13 AS individuals or families . ^^^ In two familial cases and one sporadic case , mosaicism for UBE3A mutations was detected : in the mother of three AS sons , in the maternal grandfather of two AS first cousins , and in the mother of an AS daughter . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
One has the typical AS phenotype and carries the previously reported 1344delAG de novo mutation involving a functionally significant region of UBE3A . ^^^ Haplotype analysis indicated that both the AS patient and her normal sibling had inherited the same maternal UBE3A gene and its 5 ' flanking region . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
PWS involves loss of function of multiple paternally expressed genes , while mutations in a single gene , UBE3A , which is subject to spatially restricted imprinting , occur in some AS patients . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Point mutations were found in the gene for E 6 AP ubiquitin protein ligase ( UBE3A ) identifying it as the AS gene , and tissue specific imprinting ( maternal expression ) was shown in the human brain and in hippocampal neurons and Purkinje cells in the mouse . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
In instances where there is no identifiable large deletion or UPD , the risk for recurrence may be as high as 50 % as the result of either a maternally inherited imprinting center ( IC ) mutation or a ubiquitin protein ligase ( UBE3A ) gene mutation . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
At least one other gene , the E 6 associated protein ubiquitin protein ligase ( UBE3A ) gene , has been implicated in AS , so the relative contribution of the GABRB 3 gene alone or in combination with other genes remains to be established . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
AS is caused by maternal deletions for chromosome 15q11 q 13 , paternal uniparental disomy ( UPD ) , imprinting defects or loss of function mutations in the UBE3A locus which encodes E 6 AP ubiquitin protein ligase . ^^^ We have sequenced the major coding exons for UBE3A in 56 index patients with a clinical diagnosis of AS and a normal DNA methylation pattern . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Our data show that the ubiquitin protein ligase function of E 6 AP is dispensable for its ability to coactivate nuclear hormone receptors , showing that E 6 AP possesses two separable independent functions , as both a coactivator and a ubiquitin protein ligase . ^^^ Disruption of the maternal copy of E 6 AP is correlated with Angelman syndrome ( AS ) , a genetic neurological disorder characterized by severe mental retardation , seizures , speech impairment , and other symptoms . ^^^ However , the exact mechanism by which the defective E 6 AP gene causes AS remains unknown . ^^^ To correlate the E 6 AP coactivator function and ubiquitin protein ligase functions with the AS phenotype , we expressed mutant forms of E 6 AP isolated from AS patients and assessed the ability of each of these mutant proteins to coactivate PR or provide ubiquitin protein ligase activity . ^^^ This analysis revealed that in the majority of the AS patients examined , the ubiquitin protein ligase function of E 6 AP was defective whereas the coactivator function was intact . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Mutations of UBE3A have recently been identified as causing AS in the latter group . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
In this latter group , mutations in the UBE3A gene have recently been shown to be a cause of AS . ^^^ Here we describe the phenotypic expression in 14 AS cases involving eight UBE3A mutations . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
In addition , analysis of non deletion AS patients has revealed that UBE3A intragenic mutations are found in a significant number of cases . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Different clinical phenotypes and genotypes of AS are described , including chromosome 15q11 13 deletion , uniparental disomy , methylation imprinting abnormalities and mutations in the UBE3A gene . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
A fourth class of genetic defects underlying AS was recently described and consists of mutations of the UBE3A gene . ^^^ We report on our results obtained by screening 101 clinically diagnosed AS patients for mutations in the UBE3A gene . ^^^ The mutation search was carried out by single strand conformation polymorphism ( SSCP ) , and SSCP / restriction fragment length polymorphism ( RFLP ) analyses and revealed five novel UBE3A gene mutations as well as three different polymorphisms . ^^^ The results we obtained add to the as yet limited number of reports concerning UBE3A gene mutations . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
A candidate AS gene , ubiquitin protein ligase 3A ( UBE3A / E6 AP ) , has been identified , and mutations of this gene have been detected in several cases of AS . ^^^ Moreover , UBE3A is expressed predominantly from the maternal allele in brain , strongly supporting its causative role in AS . ^^^ However , there is evidence to suggest that , in addition to UBE3A , another gene ( s ) may be involved either directly in AS and / or indirectly by regulating UBE3A expression . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
We selected a sample of 25 AS patients with a clinical diagnosis of AS and a normal methylation pattern in order to search for mutations of the UBE3A gene . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
AS results from underexpression of a single gene , UBE3A , which codes for E 6 AP , a protein that functions to transfer small ubiquitin molecules to certain target proteins , to enable their degradation . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
To study the clinical overlap between Rett ( RTT ) and Angelman syndromes ( AS ) , we screened the MECP 2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Genetic evidence suggests that PWS arises from functional loss of several paternally expressed genes , including those that function as RNAs , and that AS results from loss of maternal UBE3A brain specific expression . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Most patients acquire AS by one of five mechanisms : ( 1 ) a large interstitial deletion of 15q11 q 13 ; ( 2 ) paternal uniparental disomy ( UPD ) of chromosome 15 ; ( 3 ) an imprinting defect ( ID ) ; ( 4 ) a mutation in the E 3 ubiquitin protein ligase gene ( UBE3A ) ; or ( 5 ) unidentified mechanism ( s ) . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Angelman syndrome ( AS ) , characterized by motor dysfunction , mental retardation , and seizures , is caused by several genetic etiologies involving chromosome 15q11 q 13 , including mutations of the UBE3A gene . ^^^ Lack of a functional maternal allele of UBE3A causes AS . ^^^ In order to understand the causal relationship between maternal UBE3A mutations and AS , we have constructed a mouse model with targeted inactivation of Ube3a . ^^^ Maternal inheritance of the Ube3a mutant allele also causes impaired performance in tests of motor function and spatial learning , as well as abnormal hippocampal EEG recordings . ^^^ As predicted from the dependence of UBE3A mediated ubiquitination of p 53 on HPV E 6 protein , our maternal deficient mice show normal brain p 53 levels . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Angelman syndrome ( AS ) is a disorder of psychomotor development caused by loss of function of the imprinted UBE3A gene . ^^^ Since the paternal UBE3A copy is regularly silent , only mutations inactivating the maternal copy cause AS . ^^^ Among 1 , 272 patients suspected of AS , we found one with an isolated deletion of the UBE3A gene on the maternally inherited chromosome . ^^^ Our findings support the hypothesis that the functional loss of maternal UBE3A gene activity is sufficient to cause AS and that the deleted region does not contain genes or other structures that are involved in PWS . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
On the basis of discoveries made in molecular biology , patients can be classified as belonging to five types : deletion , paternal uniparental disomy ( UPD ) , imprinting defects , mutation of the UBE3A ubiquitin protein ligase gene and unidentified mechanism ( 15 % 20 % of patients ) . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
AS results from the loss of expression of a maternal imprinted gene , UBE3A , mapped within 15q11 q 13 region , due to different mechanisms : maternal deletion , paternal UPD , imprinting center mutation , and UBE3A mutation . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
However to our knowledge , RCA has never been described before in PWS , suggesting that other maternally expressed genes , particularly UBE3A , could be responsible for the retinal changes observed in the adult AS phenotype . ^^^ Although , further investigations would be necessary to better understand the role of the UBE3A in the retina , the findings reported here should prompt a systematic ophthalmologic evaluation adult patients with AS in order to establish the real incidence of RCA and prevent further disability in these patients . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Angelman syndrome ( AS ) is caused by maternal deficiency of UBE3A , the gene encoding E 6 AP ubiquitin protein ligase . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Investigation of UBE3A and MECP 2 in Angelman syndrome ( AS ) and patients with features of AS . ^^^ Loss of function mutations of the UBE3A gene have been identified in approximately 8 % of AS cases , failing to account for the remaining patient population , and there appears to be a higher prevalence of mutations in familial than sporadic cases . ^^^ We screened UBE3A in 45 index cases of AS without obvious 15q11 13 abnormalities . ^^^ By combining our data with those of the literature , we demonstrate statistically that the frequency of UBE3A mutations is significantly higher in the familial than sporadic subsets of AS . ^^^ We screened 24 of the sporadic AS cases without detectable UBE3A mutations for mutations of MECP 2 , but found none . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The genetic mechanisms identified so far in AS are found in 85 90 % of those with the clinical phenotype and all interfere with UBE3A expression . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The human UBE3A gene shows brain specific partial imprinting , and lack of a maternally inherited allele causes Angelman syndrome ( AS ) , which is characterized by neurobehavioral anomalies . ^^^ In several AS model mice , imprinted Ube3a expression is detected predominantly in the hippocampus , cerebellar Purkinje cells and the olfactory bulb . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Recently , a mouse model for AS ( Ube3a maternal null mutation ) was developed that displays deficits in both context dependent learning and hippocampal long term potentiation ( LTP ) . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Thirteen cases ( 35 . 1 % ) showed no deletion , no UPD , no imprinting defect , no UBE3A mutation and the diagnosis of AS could be ruled out in 58 patients . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Maternally , but not paternally , derived defects , such as duplications , within the AS critical region result in autistic symptomatology , suggesting that the UBE3A gene might be implicated in the causation of autism . ^^^ The study highlights the phenotypic overlap between autism and AS and increases the probability that dysregulation of UBE3A may play a role in the causation of autism . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The maternally expressed UBE3A gene is affected in AS . ^^^ To examine the role of the HBII 52 snoRNA genes , we have reinvestigated an AS family with a submicroscopic deletion spanning UBE3A and flanking sequences . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The paternally expressed SNURF SNRPN gene hosts several snoRNA genes and overlaps the UBE3A gene , which is encoded on the opposite strand , expressed at least in brain cells from the maternal chromosome only , and affected in patients with Angelman syndrome ( AS ) . ^^^ Using a quantitative PCR assay , we have found that the ratio of SNURF SNRPN / UBE3A transcript levels is increased in blood cells of AS patients with an imprinting defect , but not in AS patients with a UBE3A mutation or an unknown defect . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Angelman syndrome ( AS ) is a neurogenetic disorder associated with a loss of maternal gene expression in chromosome region 15q11 q 13 due to either maternal deletion , paternal uniparental disomy ( UPD ) , imprinting mutation , or mutation in the UBE3A gene . ^^^ We have done conformation sensitive gel electrophoresis ( CSGE ) mutation analysis of the UBE3A coding region in nine AS patients , who had shown a normal biparental inheritance and methylation pattern of the 15q11 q 13 . ^^^ Both deletions have also been detected in other AS patients , suggesting these sites may be prone to deletions in the UBE3A gene . ^^^ Screening for the UBE3A mutations in the AS patients was found useful both for the confirmation of diagnosis and genetic counseling . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Mutations have been found in the UBE3A gene ( E 6 AP ubiquitin protein ligase gene ) in many Angelman syndrome ( AS ) patients with no deletion , no uniparental disomy , and no imprinting defect . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Angelman syndrome ( AS ) is a neurodevelopmental disorder caused by maternal deficiency of the UBE3A gene that encodes E 6 AP ubiquitin protein ligase . ^^^ Expression of the UBE3A gene from the maternal chromosome is essential to prevent AS . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Most cases of Angelman syndrome ( AS ) result from loss or inactivation of ubiquitin protein ligase 3A ( UBE3A ) , a gene displaying maternal specific expression in brain . ^^^ These findings suggest the novel hypothesis that brain specific transcription of Ube3a ATS is regulated by the U exons rather than Snurf / Snrpn exon 1 as previously suggested from human studies . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Angelman syndrome ( AS ) can result from either a 15q11 q 13 deletion ( del ) , paternal uniparental disomy ( UPD ) , imprinting , or UBE3A mutations . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
AS is caused by a wide variety of genetic mechanisms , including mutations in the UBE3A gene that have been identified in 10 15 % of patients ; when the mother is heterozygous for the causative mutation , the risk of recurrence in subsequent pregnancies is 50 % . ^^^ As most of UBE3A mutations identified so far are unique to one family , the present authors have also developed an indirect single cell protocol based upon the co amplification of two microsatellite markers located within ( D15S122 ) and close to the UBE3A gene ( D15S1506 ) . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Different mechanisms of UBE3A inactivation correlate with clinical phenotypes of varying severity ; the majority of cases of AS are due to a de novo maternal deletion of the 15q11 q 13 region . ^^^ CONCLUSIONS : These data validate the mouse model produced by null mutation of the maternal Ube3a gene and provide useful results to investigate and better understand the molecular basis of sleep disturbances in AS patients . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Angelman syndrome ( AS ) is a neurodevelopmental disorder due to a functional deficit , usually a deletion , of the UBE3A gene located in the 15q11 q 13 chromosome region . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The unique epileptic patterns and distinct behavioral features may be related to multiple actions of UBE3A , possibly occurring during , as well as after , the time of neuronal development . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Patients with AS had a much higher incidence of seizures with characteristic EEG findings , similar to those seen in mice that are deficient in a single gene ( UBE3A ) that displays regional brain specific imprinting in humans and mice . ^^^ Thus , the UBE3A gene is presumed to be potentially involved in the epileptogenesis of AS . ^^^ It is also possible that UBE3A and another gene located nearby , gamma aminobutyric receptorbeta 3 subunit , may interact in some way , and result in the severe epilepsy seen with AS . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
In AS patients , the maternally expressed copy of UBE3A that codes for the ubiquitin protein ligase 3A ( E 6 AP ) is repressed . ^^^ MeCP 2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS / AS imprinting center that affects UBE3A expression . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
In AS patients is also MSPCR recommended as the first step although it is necessary to exclude mutation in UBE3A gene in case of MS PCR negativity . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Prader Willi ( PWS ) and Angelman ( AS ) are syndromes of developmental impairment that can result either from a 15q11 q 13 deletion , paternal uniparental disomy ( UPD ) , imprinting , or UBE3A mutations . ^^^ A review of the literature revealed , that for both , PWS and AS patients , cases with ( 1 ) a sSMC plus microdeletion of the PWS / AS critical region , ( 2 ) inv dup ( 15 ) plus uniparental disomy ( UPD ) 15 and ( 3 ) cases without exclusion of a microdeletion an UBE3A mutation or UPD are described . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
AS is caused by maternal deficiency of UBE3A ( E 6 associated protein ubiquitin protein ligase 3A gene ) , located in an imprinted region on chromosome 15q11 q 13 . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
This maternal imprinting defect results in expression of maternal Ube3a as and repression of Ube3a in cis , providing evidence that Ube3a is regulated by its antisense and creating the first reported mouse model for AS imprinting defects . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
We applied genetic tools available in Drosophila to identify candidate substrates of the UBE3A ubiquitin ligase , the gene responsible for Angelman syndrome ( AS ) . ^^^ Finally , we show that Ect 2 expression is regulated by Ube3a in mouse neurons as the pattern of Ect 2 expression is dramatically altered in the hippocampus and cerebellum of Ube3a null mice . ^^^ These results suggest that an orthologous UBE3A post translational regulatory pathway regulates neuronal outgrowth in the mammalian brain and that dysregulation of this pathway may result in neurological phenotypes including AS and possibly other autism spectrum disorders . . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
A family of proteins structurally and functionally related to the E 6 AP ubiquitin protein ligase . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
A family of proteins structurally and functionally related to the E 6 AP ubiquitin protein ligase . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
One gene was found to encode the E 6 associated protein ( E 6 AP ; gene symbol HPVE6A ) , a protein which interacts with the E 6 protein of human papilloma virus . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The human E 6 AP gene ( UBE3A ) encodes three potential protein isoforms generated by differential splicing . ^^^ The E 6 AP gene ( UBE3A ) encodes an E 3 ubiquitin protein ligase that binds the human papillomavirus E 6 oncoprotein and catalyzes the ubiquitination of p 53 . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Biochemical studies have shown that this occurs by targeted degradation of p 53 , dependent on the E 6 AP ubiquitin protein ligase . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Using this system , we first demonstrated that human GABAAreceptor subunit genes , GABRB 3 , GABRA 5 and GABRG 3 , were expressed exclusively from the paternal allele and that E 6 AP ( E 6 associated protein or UBE3A ) was biallelically expressed . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
The UBE3A gene encodes the E 6 AP ubiquitin protein ligase and has recently been shown to be mutated in Angelman syndrome patients who lack 15q11 q 13 deletions or chromosome 15 paternal uniparental disomy . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
METHODS : Ten children with AS were recruited to participate in the study ; the clinical diagnosis was confirmed by the genetic analysis ( maternal 15q deletion , uniparental paternal disomy , or mutation of the UBE3A gene ) . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Maternal truncation mutations in UBE3A , which encodes for E 6 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 . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
In addition , we also established that oxi 1 , an oxidative stress responsive gene we previously cloned , encodes a family of proteins related to human E 6 AP ubiquitin protein ligase . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
RECENT FINDINGS : Since the initial recognition that Angelman syndrome is caused by maternal deficiency of the E 6 AP ubiquitin E 3 ligase ( gene symbol UBE3A ) , several . other disorders of E 3 ligases have been identified , including autosomal recessive juvenile Parkinson disease , the APECED form of autoimmune polyendocrinopathy syndrome , von Hippel Lindau syndrome , and congenital polycythemia . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
Based on evidence that maternal but not paternal duplications of chromosome 15q cause autism , we attempted to test the hypothesis that autism involves oligogenic inheritance ( two or more loci ) and that the Angelman gene ( UBE3A ) , which encodes the E 6 AP ubiquitin ligase , is one of the contributing genes . ^^^ Based on evidence for allele sharing in 15q among sib pairs , abnormal DNA methylation at the 5 ' CpG island of UBE3A in one of 17 autism brains , and decreased E 6 AP protein in some autism brains , we propose a mixed epigenetic and genetic model for autism with both de novo and inherited contributions . ^^^
Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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Interacting proteins: Q9BUI6 and Q05086	Pubmed	SVM Score :0.0
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