|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
PABPN1 nuclear accumulation is a reliable method for diagnostic purposes and it is safe and useful in helping pathologists and clinicians to direct genetic analysis in the case of suspected OPMD, even when clinical and histological clues are deceptive.
|
31769567 |
2020 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
A short abnormal (GCN) triplet expansion in the polyA-binding protein nuclear 1 (PABPN1) gene leads to PABPN1-containing aggregates in the muscles of OPMD patients.
|
30649389 |
2019 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Established PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1.
|
31294444 |
2019 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Interestingly, knockdown of the PABPN1 by selective hhRzs in the C. elegans OPMD model significantly improved the motility of the PABPN1-13Ala worms.
|
30831428 |
2019 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mitochondrial localization of PABPN1 was observed in the muscle fibers of patients with OPMD.
|
30894671 |
2019 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
The results from our study support a model where altered protein interactions with alanine-expanded PABPN1 that lead to loss or gain of function could contribute to pathology in OPMD.
|
30837270 |
2019 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Thus, low levels of PABPN1 protein could predispose specific tissues to pathology in OPMD.
|
29939290 |
2018 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Using a combination of live cell imaging and biochemical measures, we evaluated the potential protective effect of VPA in a stable C2C12 muscle cell model of OPMD, in lymphoblastoid cell lines derived from patients with OPMD and in a transgenic <i>Caenorhabditis elegans</i> OPMD model expressing human mutant PABPN1.
|
30006409 |
2018 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
PABPN1 genotyping and DNA sequence analysis revealed a heterozygous (GCG)10(GCA)3GCG mutation that led to the diagnosis of OPMD.
|
30412104 |
2018 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is linked to mutations in the gene encoding poly(A)-binding protein nuclear 1 (PABPN1).
|
28303574 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Recent studies have suggested that a loss of PABPN1 function could contribute to muscle pathology in OPMD.
|
28575395 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Although PABPN1 plays a critical role in the regulation of RNA processing, mutation of the gene encoding this ubiquitously expressed RNA binding protein causes a specific form of muscular dystrophy termed oculopharyngeal muscular dystrophy (OPMD).
|
28977530 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
In OPMD models a shift from distal to proximal polyadenylation site utilization in the 3'-UTR, and PABPN1 was shown to play a prominent role in APA.
|
29088723 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our work demonstrates that patients with OPMD with longer PABPN1 expansion are on average diagnosed at an earlier age than patients with a shorter expansion, confirming that polyalanine expansion size plays a role in OPMD, with an effect on disease severity and progression.
|
28011929 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Here we show that the treatment of a mouse model of OPMD with an adeno-associated virus-based gene therapy combining complete knockdown of endogenous PABPN1 and its replacement by a wild-type PABPN1 substantially reduces the amount of insoluble aggregates, decreases muscle fibrosis, reverts muscle strength to the level of healthy muscles and normalizes the muscle transcriptome.
|
28361972 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
|
28590779 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
MGD |
Recent studies have suggested that a loss of PABPN1 function could contribute to muscle pathology in OPMD.
|
28575395 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The index patients were homozygotes for both a dominant mutation of the PABPN1 gene, (GCN)13, and a recessive mutation of the NRL gene, p.R31X, on chromosome 14q11.1, leading to early-onset OPMD accompanied by night blindness and reduced visual acuity.
|
27732723 |
2016 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
We identified cytokine-related genes candidates from a transcriptome study in a mouse overexpressing exp PABPN1 Six cytokines were found to be consistently down-regulated in OPMD vastus lateralis muscles.
|
27506982 |
2016 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical staining for polyadenylate-binding nuclear protein 1, which is identified within the nuclear inclusions of OPMD, demonstrated nuclear positivity in this case.
|
27209344 |
2016 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
While the roles of PABPN1 in nuclear polyadenylation and regulation of alternative poly(A) site choice have been established, the molecular mechanisms which trigger pathological defects in OPMD and the role of aggregates remain to be determined.
|
27507886 |
2016 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
While the roles of PABPN1 in nuclear polyadenylation and regulation of alternative poly(A) site choice are established, the molecular mechanisms behind OPMD remain undetermined.
|
25816335 |
2015 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
CTD_human |
A potent, selective and cell-active allosteric inhibitor of protein arginine methyltransferase 3 (PRMT3).
|
25728001 |
2015 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed homozygous (GCN)11 expansions in the PABPN1 gene that were consistent with recessive oculopharyngeal muscular dystrophy (OPMD).
|
26494409 |
2015 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
Biomarker
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD), a polyalanine myopathy, occurs due to expansion of homo-polyalanine stretch in normal polyadenylating binding protein nuclear 1 (PABPN1) protein from Ala10 to Ala11-17.
|
25903302 |
2015 |