Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology. (Q50962265)

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scientific article published on 29 May 2017

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English	Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology.	scientific article published on 29 May 2017

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/28575395

Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology (English)

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11 May 2020

oculopharyngeal muscular dystrophy

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5

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11 May 2020

Anita H. Corbett

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Anita H Corbett

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11 May 2020

Grace K. Pavlath

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Grace K Pavlath

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11 May 2020

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Katherine E Vest

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11 May 2020

Brittany L Phillips

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11 May 2020

Ayan Banerjee

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11 May 2020

Luciano H Apponi

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11 May 2020

Weiting Xu

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11 May 2020

Dinghai Zheng

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11 May 2020

Julia Yu

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11 May 2020

Bin Tian

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11 May 2020

publication date

29 May 2017

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26 March 2018

http://europepmc.org/abstract/MED/28575395

Human Molecular Genetics

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11 May 2020

26

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11 May 2020

17

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11 May 2020

3235-3252

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11 May 2020

describes a project that uses

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The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Stimulation of poly(A) polymerase through a direct interaction with the nuclear poly(A) binding protein allosterically regulated by RNA.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Poly(A) tail length is controlled by the nuclear poly(A)-binding protein regulating the interaction between poly(A) polymerase and the cleavage and polyadenylation specificity factor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Systematic profiling of poly(A)+ transcripts modulated by core 3' end processing and splicing factors reveals regulatory rules of alternative cleavage and polyadenylation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Control of mRNA stability contributes to low levels of nuclear poly(A) binding protein 1 (PABPN1) in skeletal muscle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Nuclear compartmentalization and dynamics of the poly(A)-binding protein nuclear 1 (PABPN1) inclusions in supraoptic neurons under physiological and osmotic stress conditions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

2 references

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Trinucleotide expansions leading to an extended poly-L-alanine segment in the poly (A) binding protein PABPN1 cause fibril formation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Efficient in vivo manipulation of mouse genomic sequences at the zygote stage

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

PABPN1: molecular function and muscle disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Perm1 enhances mitochondrial biogenesis, oxidative capacity, and fatigue resistance in adult skeletal muscle.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

PABPN1-Dependent mRNA Processing Induces Muscle Wasting.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Muscular dystrophy in the mdx mouse is a severe myopathy compounded by hypotrophy, hypertrophy and hyperplasia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

REDD2 expression in rat skeletal muscle correlates with nutrient-induced activation of mTORC1: responses to aging, immobilization, and remobilization

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

PABPN1 gene therapy for oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Alzheimer's disease due to loss of function: A new synthesis of the available data

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21 January 2018

Postnatal and adult consequences of loss of huntingtin during development: Implications for Huntington's disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Targeted disruption of the MHC class II Aa gene in C57BL/6 mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

3'READS+, a sensitive and accurate method for 3' end sequencing of polyadenylated RNA.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Fast gapped-read alignment with Bowtie 2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Quantitative phosphoproteomics of Alzheimer's disease reveals cross-talk between kinases and small heat shock proteins.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Measurement of protein using bicinchoninic acid

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Accurate proteome-wide label-free quantification by delayed normalization and maximal peptide ratio extraction, termed MaxLFQ.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Andromeda: a peptide search engine integrated into the MaxQuant environment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

Atrophy, Fibrosis, and Increased PAX7-Positive Cells in Pharyngeal Muscles of Oculopharyngeal Muscular Dystrophy Patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX206

21 January 2018

In vivo satellite cell activation via Myf5 and MyoD in regenerating mouse skeletal muscle.

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oculopharyngeal muscular dystrophy: clinical and morphological follow-up study reveals mitochondrial alterations and unique nuclear inclusions in a severe autosomal recessive type

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ageing and muscular dystrophy differentially affect murine pharyngeal muscles in a region-dependent manner

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of alternative cleavage and polyadenylation by 3' region extraction and deep sequencing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Poly(A) tail length control is caused by termination of processive synthesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Null and conditionalsemaphorin 3B alleles using a flexiblepuro?tk loxP/FRT vector

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear inclusions in oculopharyngeal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skeletal muscle pathology in X chromosome-linked muscular dystrophy (mdx) mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visualization of mitochondrial respiratory function using cytochrome c oxidase/succinate dehydrogenase (COX/SDH) double-labeling histochemistry

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of an essential requirement for the poly(A) binding protein function using cross-species complementation

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

REDD2 is enriched in skeletal muscle and inhibits mTOR signaling in response to leucine and stretch

1 reference

https://pubmed.ncbi.nlm.nih.gov/28575395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDX206

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5886286&resulttype=core&format=json

11 May 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5886286&resulttype=core&format=json

11 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC5886286&resulttype=core&format=json

11 May 2020

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