Genetic Conditions > mucolipidosis III gamma >

References

These sources were used to develop the Genetics Home Reference condition summary on mucolipidosis III gamma.

Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A. 2008 Feb 15;146A(4):512-3. doi: 10.1002/ajmg.a.32193. PubMed citation
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959. PubMed citation
Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T. Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma. Biochim Biophys Acta. 2009 Mar;1792(3):221-5. doi: 10.1016/j.bbadis.2009.01.009. PubMed citation
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. Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J Med Genet. 2004 Apr;41(4):e52. PubMed citation
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. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest. 2000 Mar;105(5):673-81. PubMed citation


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