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

Architectural RNAs (arcRNAs): A class of long noncoding RNAs that function as the scaffold of nuclear bodies

(2016) Takeshi Chujo et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

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

(2016) Seyed Yahya Anvar et al.   Aging-US

Poly(A) Polymerase and the Nuclear Poly(A) Binding Protein, PABPN1, Coordinate the Splicing and Degradation of a Subset of Human Pre-mRNAs

(2015) Lisa Muniz et al.   MOLECULAR AND CELLULAR BIOLOGY

Regulated Intron Retention and Nuclear Pre-mRNA Decay Contribute toPABPN1Autoregulation

(2015) Danny Bergeron et al.   MOLECULAR AND CELLULAR BIOLOGY

A Polyadenylation-Dependent 3′ End Maturation Pathway Is Required for the Synthesis of the Human Telomerase RNA

(2015) Duy Nguyen et al.   Cell Reports

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

(2015) Aymeric Chartier et al.   PLoS Genetics

A Novel Feed-Forward Loop between ARIH2 E3-Ligase and PABPN1 Regulates Aging-Associated Muscle Degeneration

(2014) Vered Raz et al.   AMERICAN JOURNAL OF PATHOLOGY

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

(2014) L. Jouan et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Alanine repeats influence protein localization in splicing speckles and paraspeckles

(2014) Shuo-Hsiu Chang et al.   NUCLEIC ACIDS RESEARCH

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

PABPN1: molecular function and muscle disease

(2013) Ayan Banerjee et al.   FEBS Journal

Gene- and exon-expression profiling reveals an extensive LPS-induced response in immune cells in patients with cirrhosis

(2013) Sonia Gandoura et al.   JOURNAL OF HEPATOLOGY

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

The Human Nuclear Poly(A)-Binding Protein Promotes RNA Hyperadenylation and Decay

(2013) Stefan M. Bresson et al.   PLoS Genetics

Cell-autonomous regulation of fast troponin T pre-mRNA alternative splicing in response to mechanical stretch

(2012) Rudolf J. Schilder et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Triplet repeats in transcripts: structural insights into RNA toxicity

(2012) Paulina Galka-Marciniak et al.   BIOLOGICAL CHEMISTRY

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

(2012) Mathias Jenal et al.   CELL

Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy

(2012) Rocío Bengoechea et al.   NEUROBIOLOGY OF DISEASE

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

(2012) Eleonora de Klerk et al.   NUCLEIC ACIDS RESEARCH

Global Profiling of Alternative Splicing Events and Gene Expression Regulated by hnRNPH/F

(2012) Erming Wang et al.   PLoS One

Post-transcriptional spliceosomes are retained in nuclear speckles until splicing completion

(2012) Cyrille Girard et al.   Nature Communications

Polyadenylation-Dependent Control of Long Noncoding RNA Expression by the Poly(A)-Binding Protein Nuclear 1

(2012) Yves B. Beaulieu et al.   PLoS Genetics

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

(2011) Vered Raz et al.   AMERICAN JOURNAL OF PATHOLOGY

Ending the message: poly(A) signals then and now

(2011) N. J. Proudfoot   GENES & DEVELOPMENT

Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy

(2011) Janet E. Davies et al.   HUMAN MOLECULAR GENETICS

SpliceAid 2: A database of human splicing factors expression data and RNA target motifs

(2011) Francesco Piva et al.   HUMAN MUTATION

SpliceDisease database: linking RNA splicing and disease

(2011) J. Wang et al.   NUCLEIC ACIDS RESEARCH

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

(2011) Seyed Anvar et al.   Skeletal Muscle

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

(2011) Kamel Mamchaoui 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

(2010) Capucine Trollet et al.   HUMAN MOLECULAR GENETICS

Expansion of the eukaryotic proteome by alternative splicing

(2010) Timothy W. Nilsen et al.   NATURE

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Alternative splicing and muscular dystrophy

(2010) Mariaelena Pistoni et al.   RNA Biology

Control of poly(A) tail length

(2010) Christian R. Eckmann et al.   Wiley Interdisciplinary Reviews-RNA

Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo

(2009) Aymeric Chartier et al.   HUMAN MOLECULAR GENETICS

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

(2009) Luciano H. Apponi et al.   HUMAN MOLECULAR GENETICS

Bortezomib Induces the Formation of Nuclear poly(A) RNA Granules Enriched in Sam68 and PABPN1 in Sensory Ganglia Neurons

(2009) Iñigo Casafont et al.   NEUROTOXICITY RESEARCH

Cotranscriptional recruitment of the nuclear poly(A)-binding protein Pab2 to nascent transcripts and association with translating mRNPs

(2009) C. Lemieux et al.   NUCLEIC ACIDS RESEARCH

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1

(2008) Hélène Catoire et al.   HUMAN MOLECULAR GENETICS

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines

(2008) John C Castle et al.   NATURE GENETICS

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS