|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
PABPN1 protein accumulation is regulated by the ubiquitin proteasome system, which is highly dysregulated in oculopharyngeal muscular dystrophy.
|
24486325 |
2014 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
In concurrence with severe muscle degeneration in OPMD, the decline in PABPN1 accelerated in OPMD and was specific to skeletal muscles.
|
23793615 |
2013 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here, we explored a pharmacological manipulation of a Wnt signaling pathway using lithium chloride (LiCl), a GSK-3β inhibitor, and observed the enhanced expression of β-catenin protein as well as the decreased cell death normally observed in an OPMD cell model of murine myoblast (C2C12) expressing the expanded and pathogenic form of the expPABPN1.
|
24091664 |
2013 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
In oculopharyngeal muscular dystrophy (OPMD), an expansion of an alanine tract at the N-terminus of poly(A)-binding protein nuclear 1 (PABPN1) causes muscle symptoms.
|
23815790 |
2013 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Blood samples were obtained after informed consent and DNA was extracted; measurement of GCG repeats in both PABPN1 alleles and sequencing of OPMD mutations were performed according to standard techniques.
|
24449978 |
2013 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
The expression of trePABPN1 in both a mouse model of OPMD and human cells elicited broad induction of proximal CS usage, linked to binding to endogenous PABPN1 and its sequestration in nuclear aggregates.
|
22502866 |
2012 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
While nuclear speckles concentrate snRNP splicing factors and PABPN1 in control muscle fibers, they are depleted of PABPN1 and appear closely associated with INIs in muscle fibers of OPMD patients.
|
22249111 |
2012 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Patients with the adult onset autosomal dominant OPMD (oculopharyngeal muscular dystrophy) carry the GCG expansion mutation in their PABPN1 gene.
|
22519734 |
2012 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy --an under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature.
|
22817818 |
2012 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy is a late-onset disease caused by an elongation of a natural 10-alanine segment within the N-terminal domain of the nuclear poly(A)-binding protein 1 (PABPN1) to maximally 17 alanines.
|
22570486 |
2012 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our results might be consistent with the toxic gain-of-function theory in the pathogenesis of OPMD and hint at a possible direct role of PABPN1 in the CNS also in heterozygote patients.
|
21956377 |
2012 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Transgene expression is induced on myotube differentiation and results in formation of insoluble nuclear PABPN1 aggregates that are similar to those observed in patients with OPMD.
|
21854744 |
2011 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).
|
21647273 |
2011 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
|
21742497 |
2011 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the size of the GCG repeat in the PABPN1 gene in 200 Thai control patients showed that 0.5% of the control subjects possessed (GCG)(7), thereby suggesting that the prevalence of autosomal recessive OPMD in the Thai population was approximately 1 in 160,000.
|
21316245 |
2011 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy caused by a polyalanine expansion mutation in the coding region of the poly-(A) binding protein nuclear 1 (PABPN1) gene.
|
21199860 |
2011 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
The above results suggest that mutated GCG repeats in PABPN1 gene may cause OPMD in this family, and PABPN1 genotyping could be used as a convenient, highly effective, and reliable gene diagnostic test for OPMD patients.
|
21089175 |
2010 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have developed cell and mouse models of OPMD and have identified the aggregation of mutant PABPN1 and apoptosis as therapeutic targets.
|
20519718 |
2010 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Ten subjects with OPMD (6 symptomatic and 4 asymptomatic) within the Taiwanese family carried a novel mutation in the PABPN1 gene.
|
19101703 |
2009 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
OPMD is particularly frequent among French Canadians (FCs) and Uzbek Jews (UJs), who carry a same size, (GCN)13, PABPN1 mutation.
|
19704078 |
2009 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It has been 10 years since the identification of the first PABPN1 gene (GCN)(n)/polyalanine mutations responsible for oculopharyngeal muscular dystrophy (OPMD).
|
19080757 |
2009 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The underlying cause of OPMD is an expanded GCG repeat in the first exon of the gene encoding poly (A)-binding protein nuclear 1 (PABPN1) localized on chromosome 14.q11.2-q13.
|
19484687 |
2009 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Among six anti-PABPN1 intrabodies expressed in muscle nuclei, we identify one as a strong suppressor of OPMD muscle degeneration in Drosophila, leading to nearly complete rescue.
|
19258344 |
2009 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
We had the rare opportunity to study monozygotic twins with identical expansions of the PABP2 gene but with markedly different severities of OPMD.
|
17550990 |
2008 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
LHGDN |
[The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)].
|
18577936 |
2008 |