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Items: 1 to 20 of 78

1.

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.

Alegra T, Koppe T, Acosta A, Sarno M, Burin M, Kessler RG, Sperb-Ludwig F, Cury G, Baldo G, Matte U, Giugliani R, Schwartz IV.

Meta Gene. 2014 Jun 1;2:403-6. doi: 10.1016/j.mgene.2014.03.003. eCollection 2014 Dec.

2.

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Wang Y, Ye J, Qiu WJ, Han LS, Gao XL, Liang LL, Gu XF, Zhang HW.

Acta Pharmacol Sin. 2019 Feb;40(2):279-287. doi: 10.1038/s41401-018-0023-9. Epub 2018 Jun 5.

PMID:
29872134
3.

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.

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
6.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S.

Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13.

PMID:
30882951
7.

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Yang M, Cho SY, Park HD, Choi R, Kim YE, Kim J, Lee SY, Ki CS, Kim JW, Sohn YB, Song J, Jin DK.

Orphanet J Rare Dis. 2017 Jan 17;12(1):11. doi: 10.1186/s13023-016-0556-2.

8.

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

Hashemi-Gorji F, Ghafouri-Fard S, Salehpour S, Yassaee VR, Miryounesi M.

J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):991-3. doi: 10.1515/jpem-2016-0032.

PMID:
27180337
9.

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD.

Mol Genet Metab Rep. 2014 Dec 5;2:34-37. doi: 10.1016/j.ymgmr.2014.12.001. eCollection 2015 Mar.

10.

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Danyukova T, Ludwig NF, Velho RV, Harms FL, Güneş N, Tidow H, Schwartz IV, Tüysüz B, Pohl S.

Hum Mutat. 2019 Oct 3. doi: 10.1002/humu.23928. [Epub ahead of print]

PMID:
31579991
11.

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.

12.

Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.

Zarghooni M, Dittakavi SS.

Am J Med Genet A. 2009 Dec;149A(12):2753-61. doi: 10.1002/ajmg.a.33134.

PMID:
19938078
13.

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
14.

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S.

J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173.

PMID:
27710913
15.

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.

Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK.

Hum Mutat. 2005 Oct;26(4):308-14.

PMID:
16116615
16.

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.

17.

Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions.

Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, Rice DS.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5221-8.

PMID:
17962477
18.

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).

De Pace R, Coutinho MF, Koch-Nolte F, Haag F, Prata MJ, Alves S, Braulke T, Pohl S.

Hum Mutat. 2014 Mar;35(3):368-76. doi: 10.1002/humu.22502. Epub 2014 Jan 15.

PMID:
24375680
19.

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S.

Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29.

PMID:
20880125
20.

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.

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