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46249124837
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Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1
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Catoire H, Pasco MY, Abu-Baker A, et al.:.: Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1. Hum Mol Genet 2008, 17:2108-2117. This paper describes the first nematode model of OPMD. It provides convincing evidence that inhibition of longevity modulators sirtuins by inhibitors such as sirtinol may favorably diminish the mutated PABPN1 toxicity, and it provides some evidence that soluble PABPN1 in the nematode appears to be the more toxic form. (Pubitemid 351911980)
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Rouleau, G.A.7
Parker, J.A.8
Neri, C.9
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A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1
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Chartier A, Benoit B, Simonelig M: A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. EMBO J 2006, 25:2253-2262.
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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
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DOI 10.1093/hmg/ddi395
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Wang Q, Mosser DD, Bag J: 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. Hum Mol Genet 2005, 14:3673-3684. (Pubitemid 41754667)
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Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with a single-domain intracellular antibody
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Verheesen P, de Kluijver A, van Koningsbruggen S, et al.: Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody. Hum Mol Genet 2006, 15:105-111. (Pubitemid 43020109)
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Van Ommen, G.-J.B.6
Van Der Maarel, S.M.7
Verrips, C.T.8
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43
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Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus
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Berciano MT, Villagra NT, Ojeda JL, et al.: Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus. Hum Mol Genet 2004, 13:829-838. (Pubitemid 38515212)
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Nuclear compartmentalization and dynamics of the poly (A)-binding protein nuclear 1 (PABPN1) inclusions in supraoptic neurons under physiological and osmotic stress conditions
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Villagra NT, Bengoechea R, Vaque JP, et al.: Nuclear compartmentalization and dynamics of the poly (A)-binding protein nuclear 1 (PABPN1) inclusions in supraoptic neurons under physiological and osmotic stress conditions. Mol Cell Neurosci 2008, 37:622-633.
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Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation
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Davies JE, Sarkar S, Rubinsztein DC: Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. Hum Mol Genet 2008, 17:1097-1108. This paper on the most studied transgenic mice model of OPMD provides strong evidence that the wild-type PABPN1 can rescue the phenotype to some extent. It demonstrates that knocking down the expression of PABPN1 leads to greater susceptibility to proapoptotic stresses, suggesting that wild-type PABPN1 appears to have an antiapoptotic function that may be mediated in part by the X-linked inhibitor of apoptosis protein. (Pubitemid 351505885)
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Klein AF, Ebihara M, Alexander C, et al.: PA BPN1 polya lanine tract deletion and long expansions modify its aggregation pattern and expression. Exp Cell Res 2008, 314:1652-1666. This paper shows that the polyalanine domain of PABPN1 is not essential for its aggregation but for its proper transport across the nuclear membrane. It also shows that larger-size expansion in the 25-40Ala range leads to more toxicity without a greater formation of aggregates; in fact, with the larger 40Ala construct no clear aggregation was produced despite the higher toxicity.
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