Oculopharyngeal muscular dystrophy: a polyalanine myopathy (Q28303935)

oculopharyngeal muscular dystrophy

Europe PubMed Central

title

Oculopharyngeal muscular dystrophy: a polyalanine myopathy (English)

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main subject

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1

Bernard Brais

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language of work or name

English

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publication date

January 2009

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published in

Current Neurology and Neuroscience Reports

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Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

volume

9

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issue

1

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page(s)

76-82

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cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS11910-009-0012-Y

The molecular genetics of Marfan syndrome and related disorders

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007%2FS11910-009-0012-Y

Structure and function of poly(A) binding proteins

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-009-0012-Y

Monitoring fibril formation of the N-terminal domain of PABPN1 carrying an alanine repeat by tryptophan fluorescence and real-time NMR.

21 January 2018

1 reference

12 December 2020

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2

1 reference

12 December 2020

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.

1 reference

12 December 2020

Postoperative complications in patients with oculopharyngeal muscular dystrophy: a retrospective study

1 reference

12 December 2020

A folded and functional protein domain in an amyloid-like fibril

1 reference

12 December 2020

Localization of poly(A)-binding protein 2 (PABP2) in nuclear speckles is independent of import into the nucleus and requires binding to poly(A) RNA

1 reference

12 December 2020

Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Effect of oculopharyngeal muscular dystrophy-associated extension of seven alanines on the fibrillation properties of the N-terminal domain of PABPN1

1 reference

12 December 2020

Surgery in oculopharyngeal muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression

1 reference

12 December 2020

Nuclear poly(A)-binding protein PABPN1 is associated with RNA polymerase II during transcription and accompanies the released transcript to the nuclear pore

1 reference

12 December 2020

Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Variability of the recessive oculopharyngeal muscular dystrophy phenotype

1 reference

12 December 2020

Deciphering the cellular pathway for transport of poly(A)-binding protein II

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation

1 reference

12 December 2020

Oculopharyngeal muscular dystrophy in Hispanic New Mexicans

1 reference

12 December 2020

Hofmeister salts and potential therapeutic compounds accelerate in vitro fibril formation of the N-terminal domain of PABPN1 containing a disease-causing alanine extension

1 reference

12 December 2020

A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy

1 reference

12 December 2020

A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.

1 reference

12 December 2020

Nuclear inclusions in oculopharyngeal dystrophy

1 reference

12 December 2020

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

12 December 2020

Recent studies on oculopharyngeal muscular dystrophy in Québec

1 reference

12 December 2020

Siblings with recessive oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population

1 reference

12 December 2020

Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Structural and dynamical characterization of fibrils from a disease-associated alanine expansion domain using proteolysis and solid-state NMR spectroscopy

1 reference

12 December 2020

An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report

1 reference

12 December 2020

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

1 reference

12 December 2020

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

1 reference

12 December 2020

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy

1 reference

12 December 2020

Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Crystal structure and possible dimerization of the single RRM of human PABPN1

1 reference

12 December 2020

Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with a single-domain intracellular antibody

1 reference

12 December 2020

Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

1 reference

12 December 2020

Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy

1 reference

12 December 2020