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Items: 13

1.

Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.

Pucheta-Martinez E, D'Amelio N, Lelli M, Martinez-Torrecuadrada JL, Sudol M, Saladino G, Gervasio FL.

Sci Rep. 2016 Jul 26;6:30293. doi: 10.1038/srep30293.

2.

Prioritizing genes for X-linked diseases using population exome data.

Ge X, Kwok PY, Shieh JT.

Hum Mol Genet. 2015 Feb 1;24(3):599-608. doi: 10.1093/hmg/ddu473. Epub 2014 Sep 12.

3.

The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling.

Iwasaki Y, Thomsen GH.

Development. 2014 Oct;141(19):3740-51. doi: 10.1242/dev.106658. Epub 2014 Sep 10.

4.

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.

Ito H, Shiwaku H, Yoshida C, Homma H, Luo H, Chen X, Fujita K, Musante L, Fischer U, Frints SG, Romano C, Ikeuchi Y, Shimamura T, Imoto S, Miyano S, Muramatsu SI, Kawauchi T, Hoshino M, Sudol M, Arumughan A, Wanker EE, Rich T, Schwartz C, Matsuzaki F, Bonni A, Kalscheuer VM, Okazawa H.

Mol Psychiatry. 2015 Apr;20(4):459-71. doi: 10.1038/mp.2014.69. Epub 2014 Jul 29.

5.

Status quo of annotation of human disease variants.

Venselaar H, Camilli F, Gholizadeh S, Snelleman M, Brunner HG, Vriend G.

BMC Bioinformatics. 2013 Dec 4;14:352. doi: 10.1186/1471-2105-14-352.

6.

The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.

Ikeuchi Y, de la Torre-Ubieta L, Matsuda T, Steen H, Okazawa H, Bonni A.

Cell Rep. 2013 Sep 12;4(5):879-89. doi: 10.1016/j.celrep.2013.07.042. Epub 2013 Aug 29.

7.

Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1.

Sudol M, McDonald CB, Farooq A.

FEBS Lett. 2012 Aug 14;586(17):2795-9. doi: 10.1016/j.febslet.2012.03.041. Epub 2012 Mar 28. Review.

8.

Solution model of the intrinsically disordered polyglutamine tract-binding protein-1.

Rees M, Gorba C, de Chiara C, Bui TT, Garcia-Maya M, Drake AF, Okazawa H, Pastore A, Svergun D, Chen YW.

Biophys J. 2012 Apr 4;102(7):1608-16. doi: 10.1016/j.bpj.2012.02.047. Epub 2012 Apr 3.

9.

Fragile X and X-linked intellectual disability: four decades of discovery.

Lubs HA, Stevenson RE, Schwartz CE.

Am J Hum Genet. 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. Review.

10.

Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.

Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson AC, Mazack V, Humbert J, Gaffney CJ, Beullens M, Schwartz CE, Landgraf C, Volkmer R, Pastore A, Farooq A, Bollen M, Sudol M.

J Biol Chem. 2010 Jun 18;285(25):19391-401. doi: 10.1074/jbc.M109.084525. Epub 2010 Apr 21.

11.

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O.

Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Erratum in: Am J Hum Genet. 2009 Sep;85(3):419.

12.

Sequence determinants of thermodynamic stability in a WW domain--an all-beta-sheet protein.

J├Ąger M, Dendle M, Kelly JW.

Protein Sci. 2009 Aug;18(8):1806-13. doi: 10.1002/pro.172.

13.

Epigenetic principles and mechanisms underlying nervous system functions in health and disease.

Mehler MF.

Prog Neurobiol. 2008 Dec 11;86(4):305-41. doi: 10.1016/j.pneurobio.2008.10.001. Epub 2008 Oct 17. Review.

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