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Items: 1 to 20 of 106

1.

PABPN1: molecular function and muscle disease.

Banerjee A, Apponi LH, Pavlath GK, Corbett AH.

FEBS J. 2013 Sep;280(17):4230-50. doi: 10.1111/febs.12294. Epub 2013 May 24. Review.

2.

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.

Raz V, Sterrenburg E, Routledge S, Venema A, van der Sluijs BM, Trollet C, Dickson G, van Engelen BG, van der Maarel SM, Antoniou MN.

BMC Neurol. 2013 Jul 1;13:70. doi: 10.1186/1471-2377-13-70.

3.

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

Klein P, Oloko M, Roth F, Montel V, Malerba A, Jarmin S, Gidaro T, Popplewell L, Perie S, Lacau St Guily J, de la Grange P, Antoniou MN, Dickson G, Butler-Browne G, Bastide B, Mouly V, Trollet C.

Nucleic Acids Res. 2016 Dec 15;44(22):10929-10945. Epub 2016 Aug 9.

4.

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

Anvar SY, Raz Y, Verway N, van der Sluijs B, Venema A, Goeman JJ, Vissing J, van der Maarel SM, 't Hoen PA, van Engelen BG, Raz V.

Aging (Albany NY). 2013 Jun;5(6):412-26.

5.

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

Chartier A, Benoit B, Simonelig M.

EMBO J. 2006 May 17;25(10):2253-62. Epub 2006 Apr 27.

6.
7.

Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy.

Mankodi A, Wheeler TM, Shetty R, Salceies KM, Becher MW, Thornton CA.

Neurobiol Dis. 2012 Jan;45(1):539-46. doi: 10.1016/j.nbd.2011.09.010. Epub 2011 Sep 21.

8.

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

Chartier A, Klein P, Pierson S, Barbezier N, Gidaro T, Casas F, Carberry S, Dowling P, Maynadier L, Bellec M, Oloko M, Jardel C, Moritz B, Dickson G, Mouly V, Ohlendieck K, Butler-Browne G, Trollet C, Simonelig M.

PLoS Genet. 2015 Mar 27;11(3):e1005092. doi: 10.1371/journal.pgen.1005092. eCollection 2015 Mar.

9.

PABPN1-Dependent mRNA Processing Induces Muscle Wasting.

Riaz M, Raz Y, van Putten M, Paniagua-Soriano G, Krom YD, Florea BI, Raz V.

PLoS Genet. 2016 May 6;12(5):e1006031. doi: 10.1371/journal.pgen.1006031. eCollection 2016 May.

10.

A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration.

Raz V, Buijze H, Raz Y, Verwey N, Anvar SY, Aartsma-Rus A, van der Maarel SM.

Am J Pathol. 2014 Apr;184(4):1119-31. doi: 10.1016/j.ajpath.2013.12.011. Epub 2014 Jan 30.

PMID:
24486325
11.

Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.

Abu-Baker A, Rouleau GA.

Biochim Biophys Acta. 2007 Feb;1772(2):173-85. Epub 2006 Oct 11. Review.

12.

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

Bengoechea R, Tapia O, Casafont I, Berciano J, Lafarga M, Berciano MT.

Neurobiol Dis. 2012 Apr;46(1):118-29. doi: 10.1016/j.nbd.2011.12.052. Epub 2012 Jan 10.

PMID:
22249111
13.

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

Wang Q, Bag J.

Biochem Biophys Res Commun. 2006 Feb 17;340(3):815-22. Epub 2005 Dec 21.

PMID:
16378590
14.

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

Apponi LH, Leung SW, Williams KR, Valentini SR, Corbett AH, Pavlath GK.

Hum Mol Genet. 2010 Mar 15;19(6):1058-65. doi: 10.1093/hmg/ddp569. Epub 2009 Dec 24.

15.

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

Hino H, Araki K, Uyama E, Takeya M, Araki M, Yoshinobu K, Miike K, Kawazoe Y, Maeda Y, Uchino M, Yamamura K.

Hum Mol Genet. 2004 Jan 15;13(2):181-90. Epub 2003 Nov 25.

PMID:
14645203
16.

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

de Klerk E, Venema A, Anvar SY, Goeman JJ, Hu O, Trollet C, Dickson G, den Dunnen JT, van der Maarel SM, Raz V, 't Hoen PA.

Nucleic Acids Res. 2012 Oct;40(18):9089-101. doi: 10.1093/nar/gks655. Epub 2012 Jul 6.

17.

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

Corbeil-Girard LP, Klein AF, Sasseville AM, Lavoie H, Dicaire MJ, Saint-Denis A, Pagé M, Duranceau A, Codère F, Bouchard JP, Karpati G, Rouleau GA, Massie B, Langelier Y, Brais B.

Neurobiol Dis. 2005 Apr;18(3):551-67.

PMID:
15755682
18.

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

Trollet C, Anvar SY, Venema A, Hargreaves IP, Foster K, Vignaud A, Ferry A, Negroni E, Hourde C, Baraibar MA, 't Hoen PA, Davies JE, Rubinsztein DC, Heales SJ, Mouly V, van der Maarel SM, Butler-Browne G, Raz V, Dickson G.

Hum Mol Genet. 2010 Jun 1;19(11):2191-207. doi: 10.1093/hmg/ddq098. Epub 2010 Mar 5.

PMID:
20207626
19.

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

Apponi LH, Corbett AH, Pavlath GK.

Skelet Muscle. 2013 Oct 1;3(1):23. doi: 10.1186/2044-5040-3-23.

20.

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

Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA.

Can J Neurol Sci. 2003 Aug;30(3):244-51.

PMID:
12945950

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