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

PABPN1 gene therapy for oculopharyngeal muscular dystrophy

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

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

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Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

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PABPN1-Dependent mRNA Processing Induces Muscle Wasting

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

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

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

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Systematic Profiling of Poly(A)+ Transcripts Modulated by Core 3’ End Processing and Splicing Factors Reveals Regulatory Rules of Alternative Cleavage and Polyadenylation

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Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis

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

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An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

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

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

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PABPN1: molecular function and muscle disease

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

(2013) Teresa Gidaro et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

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The Poly(A)-Binding Protein Nuclear 1 Suppresses Alternative Cleavage and Polyadenylation Sites

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

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

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

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Modeling Oculopharyngeal Muscular Dystrophy in Myotube Cultures Reveals Reduced Accumulation of Soluble Mutant PABPN1 Protein

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Andromeda: A Peptide Search Engine Integrated into the MaxQuant Environment

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Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy

(2011) Ami Mankodi et al.   NEUROBIOLOGY OF DISEASE

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

(2011) Seyed Anvar et al.   Skeletal Muscle

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

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Cystamine Suppresses Polyalanine Toxicity in a Mouse Model of Oculopharyngeal Muscular Dystrophy

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

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

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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

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

(2009) Da Wei Huang et al.   Nature Protocols

Hsp70 Chaperones and Type I PRMTs Are Sequestered at Intranuclear Inclusions Caused by Polyalanine Expansions in PABPN1

(2009) João Paulo Tavanez et al.   PLoS One

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1

(2008) Hélène Catoire et al.   HUMAN MOLECULAR GENETICS

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

(2008) Janet E. Davies et al.   HUMAN MOLECULAR GENETICS

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

(2008) Nuria T. Villagra et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH