Aggarwal S, Francisca M, Dalal AB, Mohamed SJ, Jain N, João M, Alves S (2014) Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation. Gene 542(2):266–268. https://doi.org/10.1016/j.gene.2014.03.053
Article
Google Scholar
Bargal R, Zeigler M, Abu-libdeh B, Zuri V, Mandel H, Ben-Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A (2006) When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab 88(4):359–363. https://doi.org/10.1016/j.ymgme.2006.03.003
Article
Google Scholar
Cathey S, Leroy G, Wood T, Eaves K, Simensen R, Kudo M, Stevenson R, Friez M (2010) Phenotype and genotype in Mucolipidoses II and III alpha/beta: a study of 61 Probands. J Med Genet 47(1):38–48. https://doi.org/10.1136/jmg.2009.067736
Article
Google Scholar
Coutinho M, Encarnaҫão M, Gomes R, Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury G, Schwartz I, Artigalãs O, Prata M, Alves S (2011) Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Clin Gen 80(3):273–280. https://doi.org/10.1111/j.1399-0004.2010.01539.x
Article
Google Scholar
Cury G, Matte U, Artigalas O, Alegra T, Velho R, Sperb F, Burin M, Ribeiro E, Lourenco C, Kim C, Valadares E, Galera M, Acosta A, Schwartz I (2013) Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene 524(1):59–64. https://doi.org/10.1016/j.gene.2013.03.105
Article
Google Scholar
Encarnaҫão M, Lacerda L, Costa R, Prata M, Coutinho M, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima M, Alves S (2009) Molecular analysis of the GNPTABB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin Genet 76(1):76–84. https://doi.org/10.1111/j.1399-0004.2009.01185.x
Article
Google Scholar
Hakim M, Walia H, Krishna S, Tobias J (2017) Anesthetic management of a 13-year-old adolescent with mucolipidosis type II for total hip arthroplasty. Journal of Med Cases 8(7):203–206. https://doi.org/10.14740/jmc2834w
Article
Google Scholar
Kasapkara Ç, Akçaboy M, Eroğlu F, Derİnkuyu B (2018) Mucolipidosis type III: a rare disease in differential diagnosis of joint stiffness in pediatric rheumatology. Arch Rheumatol 33(1):93–98. https://doi.org/10.5606/ArchRheumatol.2018.6262
Article
Google Scholar
Kazemi N, Estiar MA, Fazilaty H, Sakhinia E (2018) Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers. Gene 647:93–100. https://doi.org/10.1016/j.gene.2017.12.054
Article
Google Scholar
Kerr D, Memoli V, Cathey S, Harris B (2011) Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy. Arch Pathol Lab Med 135(4):503–510. https://doi.org/10.5858/2010-0236-CR.1
Article
Google Scholar
Kollmann K, Pestka JM, Ku SC, Schweizer M, Scho E, Karkmann K, Otomo T, Catala-Lehnen P, Failla AV, Marshall RP, Krause M, Santer R, Amling M, Braulke T, Schinke T (2013) Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. EMBO Mol Med 12:1871–1886
Article
Google Scholar
Kollmann K, Pohl S, Marschner K, Encarnaҫão M, Sakwaa I, Tiede S, Poorthuis B, Lübked T, Müller-Loennies S, Storch S, Braulke T (2010) Mannose phosphorylation in health and disease. Eur J Cell Biol 89(1):117–123. https://doi.org/10.1016/j.ejcb.2009.10.008
Article
Google Scholar
Kolter T, Sandhoff K (2005) Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids. Ann Rev Cell Dev Biol 21(1):81–103. https://doi.org/10.1146/annurev.cellbio.21.122303.120013
Article
Google Scholar
Kudo M, Brem M, Canfield W (2006) Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Am J Hum Genet 78:4515–4563
Article
Google Scholar
Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick R (2006) Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol Genet Metab 87(3):213–218. https://doi.org/10.1016/j.ymgme.2005.11.001
Article
Google Scholar
Liu S, Zhang W, Shi H, Yao F, Wei M, Qiu Z (2016) Mutation analysis of 16 mucolipidosis II and III alpha/beta Chinese children revealed genotype-phenotype correlations. Plos One 11:1–12
Google Scholar
Pasumarthi D, Gupta N, Sheth J, Jain J, Rungsung I, Kabra M, Ranganath P, Aggarwal S, Phadke S, Girisha K, Shukla A, Datar C, Verma I, Dua Puri R, Bhavsar R, Mistry M, Sankar V, Gowrishankar K, Agrawal D, Nair M, Danda S, Prakash Soni J, Dalal A (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with mucolipidosis type II and type III. J Hum Genet 65(11):971–984. https://doi.org/10.1038/s10038-020-0797-8
Article
Google Scholar
Plante M, Claveau S, Lepagec P, Lavoie E, Brunet S, Roquis D, Morin C, Vézina LC (2008) Mucolipidosis II: a single causal mutation in the N -acetylglucosamine-1- phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clin Genet 72:236–244
Article
Google Scholar
Qian Y, Lee I, Lee W, Qian M, Kudo M, Canfield W, Lobel P (2010) Functions of the α, β, and γ Subunits of UDP-GlcNAc: Lysosomal Enzyme N-Acetylglucosamine-1-phosphotransferase. J Biol Chem 285(5):3360–3370. https://doi.org/10.1074/jbc.M109.068650
Article
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30
Article
Google Scholar
Schweizer M, Markmann S, Braulke T, Kollmann K (2013) Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice. Ultrastruct Pathol 37(5):366–372. https://doi.org/10.3109/01913123.2013.810687
Article
Google Scholar
Singh A, Prasad R, Gupta AK, Sharma A, Alves S, Coutinho M, Kapoor S, Mishra O (2017) I-cell disease (mucolipidosis II Alpha/Beta): from screening to molecular diagnosis. Indian J Pediatr 84(2):144–146. https://doi.org/10.1007/s12098-016-2243-7
Article
Google Scholar
Tappino B, Chuzhanova N, Regis S, Dardis A, Corsolini F, Stroppiano M, Tonoli E, Beccari T, Rosano C, Mucha J, Blanco M, Szlago M, Di Rocco M, Cooper D, Filocamo M (2009) Molecular characterization of 22 novel transferase α - and β -subunit (GNPTAB) gene mutations causing mucolipidosis types II α / β and III α / β in 46 patients. Hum Mutat 973:956–973
Article
Google Scholar
Velho R, Ludwig N, Alegra T, Sperb-ludwig F, Guarany N, Matte U, Schwartz I (2016) Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. J Hum Genet 61(6):555–560. https://doi.org/10.1038/jhg.2016.13
Article
Google Scholar
Velho R, Pace R, Klünder S, Sperb-ludwig F, Lourenço C, Schwartz I, Braulke T, Pohl S (2015) Analyses of disease-related GNPTAB mutations de fi ne a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site. Hum Mol Genet 24(12):3497–3505. https://doi.org/10.1093/hmg/ddv100
Article
Google Scholar
Velho R, Harms F, Danyukova T, Ludwig N, Friez M, Cathey S, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee K, Brammeier K, Heptinstall L, Oussoren E, van der Ploeg A, Petersen C, Alves S, Saavedra G, Schwartz I, Muschol N, Kutsche K, Pohl S (2019) The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Hum Mutat 40(7):842–864
Google Scholar
Wang Y, Ye J, Qiu W, Han L, Gao X, Liang L, Gu X, Zhang H (2019) Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II. Acta Pharmacol Sin 40(2):279–287. https://doi.org/10.1038/s41401-018-0023-9
Article
Google Scholar
Yang M, Cho SY, Park H, Choi R, Kim Y, Kim J, Lee SY, Ki CS, Kim JW, Sohn YB, Song J, Jin DK (2017) Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II / III and successful prenatal diagnosis. Orphanet J Rare Dis 12:1–9
Article
Google Scholar
Yang Y, Wu J, Liu H, Chen X, Wang Y, Zhao M, He X (2013) Genomics Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha / beta using targeted next-generation sequencing. Genomics 102(3):169–173. https://doi.org/10.1016/j.ygeno.2013.06.001
Article
Google Scholar