PABPN 1: molecular function and muscle disease
The polyadenosine RNA binding protein polyadenylate‐binding nuclear protein 1 (PABPN
1) plays key roles in post‐transcriptional processing of RNA. Although PABPN 1 is …
1) plays key roles in post‐transcriptional processing of RNA. Although PABPN 1 is …
Intrinsic disorder in proteins with pathogenic repeat expansions
AL Darling, VN Uversky - Molecules, 2017 - mdpi.com
Intrinsically disordered proteins and proteins with intrinsically disordered regions have been
shown to be highly prevalent in disease. Furthermore, disease-causing expansions of the …
shown to be highly prevalent in disease. Furthermore, disease-causing expansions of the …
Delineating the structural blueprint of the pre-mRNA 3′-end processing machinery
Processing of mRNA precursors (pre-mRNAs) by polyadenylation is an essential step in
gene expression. Polyadenylation consists of two steps, cleavage and poly (A) synthesis …
gene expression. Polyadenylation consists of two steps, cleavage and poly (A) synthesis …
Interplay of RNA-binding proteins and microRNAs in neurodegenerative diseases
C Kinoshita, N Kubota, K Aoyama - International Journal of Molecular …, 2021 - mdpi.com
The number of patients with neurodegenerative diseases (NDs) is increasing, along with the
growing number of older adults. This escalation threatens to create a medical and social …
growing number of older adults. This escalation threatens to create a medical and social …
Oculopharyngeal muscular dystrophy: a polyalanine myopathy
B Brais - Current neurology and neuroscience reports, 2009 - Springer
It has been 10 years since the identification of the first PABPN1 gene (GCN) n/polyalanine
mutations responsible for oculopharyngeal muscular dystrophy (OPMD). These mutations …
mutations responsible for oculopharyngeal muscular dystrophy (OPMD). These mutations …
Structural biology of poly (A) site definition
Abstract 3′ processing is an essential step in the maturation of all messenger RNAs
(mRNAs) and is a tightly coupled two‐step reaction: endonucleolytic cleavage at the poly (A) …
(mRNAs) and is a tightly coupled two‐step reaction: endonucleolytic cleavage at the poly (A) …
The nuclear poly (A) binding protein of mammals, but not of fission yeast, participates in mRNA polyadenylation
U Kühn, J Buschmann, E Wahle - Rna, 2017 - rnajournal.cshlp.org
The nuclear poly (A) binding protein (PABPN1) has been suggested, on the basis of
biochemical evidence, to play a role in mRNA polyadenylation by strongly increasing the …
biochemical evidence, to play a role in mRNA polyadenylation by strongly increasing the …
Oculopharyngeal muscular dystrophy
B Brais - Handbook of clinical neurology, 2011 - Elsevier
Publisher Summary Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle
disease associated with progressive ptosis of the eyelids, dysphagia, and unique …
disease associated with progressive ptosis of the eyelids, dysphagia, and unique …
Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1
JP Tavanez, R Bengoechea, MT Berciano, M Lafarga… - PloS one, 2009 - journals.plos.org
Genomic instability at loci with tandem arrays of simple repeats is the cause for many
neurological, neurodegenerative and neuromuscular diseases. When located in coding …
neurological, neurodegenerative and neuromuscular diseases. When located in coding …
Insight into the Structural Basis for Dual Nucleic Acid—Recognition by the Scaffold Attachment Factor B2 Protein
SM Korn, J Von Ehr, K Dhamotharan, JN Tants… - International Journal of …, 2023 - mdpi.com
The family of scaffold attachment factor B (SAFB) proteins comprises three members and
was first identified as binders of the nuclear matrix/scaffold. Over the past two decades …
was first identified as binders of the nuclear matrix/scaffold. Over the past two decades …