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Items: 1 to 20 of 73

1.

Toward a therapeutic strategy for polyalanine expansions disorders: in vivo and in vitro models for drugs analysis.

Di Zanni E, Ceccherini I, Bachetti T.

Eur J Paediatr Neurol. 2011 Sep;15(5):449-52. doi: 10.1016/j.ejpn.2011.02.005. Epub 2011 Mar 9. Review.

PMID:
21388845
2.

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.

Di Zanni E, Bachetti T, Parodi S, Bocca P, Prigione I, Di Lascio S, Fornasari D, Ravazzolo R, Ceccherini I.

Neurobiol Dis. 2012 Jan;45(1):508-18. doi: 10.1016/j.nbd.2011.09.007. Epub 2011 Sep 21.

PMID:
21964250
3.

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.

Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW.

Am J Med Genet A. 2007 Dec 15;143A(24):3161-8.

4.

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.

Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I.

Int J Biochem Cell Biol. 2007;39(2):327-39. Epub 2006 Sep 14.

PMID:
17045833
5.

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S.

Hum Mol Genet. 2004 Oct 15;13(20):2351-9. Epub 2004 Aug 27.

PMID:
15333588
6.

Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.

Wong J, Farlie P, Holbert S, Lockhart P, Thomas PQ.

Front Biosci. 2007 Jan 1;12:2085-95.

PMID:
17127446
7.

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Trochet D, Mathieu Y, Pontual Ld, Savarirayan R, Munnich A, Brunet JF, Lyonnet S, Goridis C, Amiel J.

Hum Mutat. 2009 Feb;30(2):E421-31. doi: 10.1002/humu.20923.

PMID:
19058226
8.

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

Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville AM, Langelier Y, Rouleau GA, Brais B.

Exp Cell Res. 2008 May 1;314(8):1652-66. doi: 10.1016/j.yexcr.2008.02.005. Epub 2008 Feb 23.

PMID:
18367172
9.

Molecular mechanisms underlying polyalanine diseases.

Messaed C, Rouleau GA.

Neurobiol Dis. 2009 Jun;34(3):397-405. doi: 10.1016/j.nbd.2009.02.013. Epub 2009 Mar 6. Review.

PMID:
19269323
10.

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

Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA.

Hum Mol Genet. 2003 Oct 15;12(20):2609-23. Epub 2003 Aug 27.

PMID:
12944420
11.

Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.

Fan X, Dion P, Laganiere J, Brais B, Rouleau GA.

Hum Mol Genet. 2001 Oct 1;10(21):2341-51.

PMID:
11689481
12.

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

Nallathambi J, Moumné L, De Baere E, Beysen D, Usha K, Sundaresan P, Veitia RA.

Hum Genet. 2007 Mar;121(1):107-12. Epub 2006 Nov 7.

PMID:
17089161
13.

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J.

Hum Mol Genet. 2005 Dec 1;14(23):3697-708. Epub 2005 Oct 25.

PMID:
16249188
14.

The complex pathology of trinucleotide repeats.

Reddy PS, Housman DE.

Curr Opin Cell Biol. 1997 Jun;9(3):364-72. Review.

PMID:
9159084
15.

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.

Caburet S, Demarez A, Moumné L, Fellous M, De Baere E, Veitia RA.

J Med Genet. 2004 Dec;41(12):932-6.

16.

Expression of polyalanine stretches induces mitochondrial dysfunction.

Toriumi K, Oma Y, Kino Y, Futai E, Sasagawa N, Ishiura S.

J Neurosci Res. 2008 May 15;86(7):1529-37. doi: 10.1002/jnr.21619.

PMID:
18214990
17.

Polyalanine tract disorders and neurocognitive phenotypes.

Shoubridge C, Gecz J.

Adv Exp Med Biol. 2012;769:185-203. Review.

PMID:
23560312
18.

Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development.

Moumné L, Dipietromaria A, Batista F, Kocer A, Fellous M, Pailhoux E, Veitia RA.

Hum Mol Genet. 2008 Apr 1;17(7):1010-9. Epub 2007 Dec 24.

PMID:
18158309
19.

The other trinucleotide repeat: polyalanine expansion disorders.

Albrecht A, Mundlos S.

Curr Opin Genet Dev. 2005 Jun;15(3):285-93. Review.

PMID:
15917204
20.

Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.

Cocquempot O, Brault V, Babinet C, Herault Y.

Genetics. 2009 Sep;183(1):23-30. doi: 10.1534/genetics.109.104695. Epub 2009 Jun 22.

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