Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T (2006)
Nature Medicine 11(10): 1109-1112.

Journal Article | Published | English

No fulltext has been uploaded

Author
; ; ; ; ; ;
Publishing Year
ISSN
PUB-ID

Cite this

Tiede S, Storch S, Lübke T, et al. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine. 2006;11(10):1109-1112.
Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., & Braulke, T. (2006). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine, 11(10), 1109-1112.
Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., and Braulke, T. (2006). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine 11, 1109-1112.
Tiede, S., et al., 2006. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine, 11(10), p 1109-1112.
S. Tiede, et al., “Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase”, Nature Medicine, vol. 11, 2006, pp. 1109-1112.
Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., Braulke, T.: Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine. 11, 1109-1112 (2006).
Tiede, Stephan, Storch, Stephan, Lübke, Torben, Henrissat, Bernhard, Bargal, Ruth, Raas-Rothschild, Annick, and Braulke, Thomas. “Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase”. Nature Medicine 11.10 (2006): 1109-1112.
This data publication is cited in the following publications:
This publication cites the following data publications:

59 Citations in Europe PMC

Data provided by Europe PubMed Central.

Effect of Vitamin E Administration on Learning of the Young Male Rats.
Dolu N, Khan A, Dokutan S., J Exp Neurosci 9(), 2015
PMID: 26380558
Golgi post-translational modifications and associated diseases.
Potelle S, Klein A, Foulquier F., J. Inherit. Metab. Dis. 38(4), 2015
PMID: 25967285
Bacterial expression of the phosphodiester-binding site of the cation-independent mannose 6-phosphate receptor for crystallographic and NMR studies.
Olson LJ, Jensen DR, Volkman BF, Kim JJ, Peterson FC, Gundry RL, Dahms NM., Protein Expr. Purif. 111(), 2015
PMID: 25863146
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.
Idol RA, Wozniak DF, Fujiwara H, Yuede CM, Ory DS, Kornfeld S, Vogel P., PLoS ONE 9(10), 2014
PMID: 25314316
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 535(2), 2014
PMID: 24316125
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 37(5), 2013
PMID: 24047352
A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.
Heo JS, Choi KY, Sohn SH, Kim C, Kim YJ, Shin SH, Lee JM, Lee J, Sohn JA, Lim BC, Lee JA, Choi CW, Kim EK, Kim HS, Kim BI, Choi JH., Korean J Pediatr 55(11), 2012
PMID: 23227064

15 References

Data provided by Europe PubMed Central.


AUTHOR UNKNOWN, 0

AUTHOR UNKNOWN, 0
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. 26(4), 2005
PMID: 16116615
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM., J. Clin. Invest. 105(5), 2000
PMID: 10712439
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M., J. Med. Genet. 41(4), 2004
PMID: 15060128
Synthesis of phosphorylated recognition marker in lysosomal enzymes is located in the cis part of Golgi apparatus.
Pohlmann R, Waheed A, Hasilik A, von Figura K., J. Biol. Chem. 257(10), 1982
PMID: 6279593
Lysosome biogenesis requires Rab9 function and receptor recycling from endosomes to the trans-Golgi network.
Riederer MA, Soldati T, Shapiro AD, Lin J, Pfeffer SR., J. Cell Biol. 125(3), 1994
PMID: 7909812

AUTHOR UNKNOWN, 0
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.
Muschol N, Matzner U, Tiede S, Gieselmann V, Ullrich K, Braulke T., Biochem. J. 368(Pt 3), 2002
PMID: 12296771

Export

0 Marked Publications

Open Data PUB

Web of Science

View record in Web of Science®

Sources

PMID: 16200072
PubMed | Europe PMC

Search this title in

Google Scholar