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Items: 1 to 20 of 124

1.

A role for inherited metabolic deficits in persistent developmental stuttering.

Kang C, Drayna D.

Mol Genet Metab. 2012 Nov;107(3):276-80. doi: 10.1016/j.ymgme.2012.07.020. Epub 2012 Jul 28. Review.

2.

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D.

N Engl J Med. 2010 Feb 25;362(8):677-85. doi: 10.1056/NEJMoa0902630. Epub 2010 Feb 10.

3.

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D.

Eur J Hum Genet. 2016 Apr;24(4):529-34. doi: 10.1038/ejhg.2015.154. Epub 2015 Jul 1.

4.

Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.

Qian Y, van Meel E, Flanagan-Steet H, Yox A, Steet R, Kornfeld S.

J Biol Chem. 2015 Jan 30;290(5):3045-56. doi: 10.1074/jbc.M114.612507. Epub 2014 Dec 11.

5.

A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.

Han TU, Park J, Domingues CF, Moretti-Ferreira D, Paris E, Sainz E, Gutierrez J, Drayna D.

Neurobiol Dis. 2014 Sep;69:23-31. doi: 10.1016/j.nbd.2014.04.019. Epub 2014 May 5.

6.

Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.

Chen H, Xu J, Zhou Y, Gao Y, Wang G, Xia J, Huen MS, Siok WT, Jiang Y, Tan LH, Sun Y.

BMC Genet. 2015 Feb 3;16:7. doi: 10.1186/s12863-015-0172-5.

7.

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.

Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x.

PMID:
19659762
8.

Comparative pathology of murine mucolipidosis types II and IIIC.

Vogel P, Payne BJ, Read R, Lee WS, Gelfman CM, Kornfeld S.

Vet Pathol. 2009 Mar;46(2):313-24. doi: 10.1354/vp.46-2-313.

10.

Molecular analysis of the GlcNac-1-phosphotransferase.

Braulke T, Pohl S, Storch S.

J Inherit Metab Dis. 2008 Apr;31(2):253-7. doi: 10.1007/s10545-008-0862-5. Epub 2008 Apr 15. Review.

PMID:
18425436
11.

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T.

Biochim Biophys Acta. 2009 Mar;1792(3):221-5. doi: 10.1016/j.bbadis.2009.01.009.

12.

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.

Liu S, Zhang W, Shi H, Meng Y, Qiu Z.

Gene. 2014 Feb 10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6.

PMID:
24316125
14.

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.

Schweizer M, Markmann S, Braulke T, Kollmann K.

Ultrastruct Pathol. 2013 Oct;37(5):366-72. doi: 10.3109/01913123.2013.810687.

PMID:
24047352
15.

Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.

Lee WS, Kang C, Drayna D, Kornfeld S.

J Biol Chem. 2011 Nov 18;286(46):39786-93. doi: 10.1074/jbc.M111.295899. Epub 2011 Sep 28.

16.

Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

Yang Y, Wu J, Liu H, Chen X, Wang Y, Zhao M, He X.

Genomics. 2013 Sep;102(3):169-73. doi: 10.1016/j.ygeno.2013.06.001. Epub 2013 Jun 15.

17.

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS.

Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18.

18.

Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.

van Meel E, Qian Y, Kornfeld SA.

Proc Natl Acad Sci U S A. 2014 Mar 4;111(9):3532-7. doi: 10.1073/pnas.1401417111. Epub 2014 Feb 18.

19.

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D.

Am J Hum Genet. 2015 Nov 5;97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007.

20.

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.

Ko AR, Jin DK, Cho SY, Park SW, Przybylska M, Yew NS, Cheng SH, Kim JS, Kwak MJ, Kim SJ, Sohn YB.

Mol Genet Metab. 2016 Apr;117(4):447-55. doi: 10.1016/j.ymgme.2016.02.001. Epub 2016 Feb 3.

PMID:
26857995

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