| Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III. | Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S., Free PMC Article | 03/26/2022 |
| UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation. | UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.
Tiede S, Hundt JE, Paus R. | 12/18/2021 |
| Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention. | Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.
Lee WS, Jennings BC, Doray B, Kornfeld S., Free PMC Article | 11/6/2021 |
| Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. | Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Pasumarthi D, Gupta N, Sheth J, Jain SJMN, Rungsung I, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Girisha KM, Shukla A, Datar C, Verma IC, Puri RD, Bhavsar R, Mistry M, Sankar VH, Gowrishankar K, Agrawal D, Nair M, Danda S, Soni JP, Dalal A. | 05/29/2021 |
| Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. | Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.
Doğan M, Eröz R, Terali K, Gezdirici A, Bolu S. | 05/22/2021 |
| We evaluated 51 stuttering individuals with a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. Mutation carriers achieved significantly less resolution in PSI following therapy, with PSI scores showing significantly less improvement in individuals who carry a mutation (p = 0.0157, RR = 1.75, OR = 2.92) while the group difference in DWS between carriers and non-carriers was statistically not significant. | Genetic factors and therapy outcomes in persistent developmental stuttering.
Frigerio-Domingues CE, Gkalitsiou Z, Zezinka A, Sainz E, Gutierrez J, Byrd C, Webster R, Drayna D. | 08/1/2020 |
| Data provide an overview on 50 mutations in GNPTG including seven novel variants. GNPTG mutations apparently are associated with a milder phenotype and better prognosis compared with GNPTAB mutations in patients with mucolipidosis. | 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. | 03/21/2020 |
| Whole exome sequencing found an insertion mutation c.478_479insTAGG in GNTPG, which cosegregated with the Mucolipidosis III Gamma disease phenotype in the family. | Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.
Khan MA, Hussain A, Sher G, Zubaida B, Naeem M. | 01/5/2019 |
| 14 variations were found in GNPTAB, GNPTG and NAGPA genes. | Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
Kazemi N, Estiar MA, Fazilaty H, Sakhinia E. | 02/10/2018 |
| Study identified three novel mutations in GNPTG causing Mucolipidosis type III. Some were associated with severe clinical phenotype with an earlier onset of signs and symptoms and poorer prognosis. | Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.
Tüysüz B, Kasapçopur Ö, Alkaya DU, Şahin S, Sözeri B, Yeşil G. | 12/30/2017 |
| Analysis of the missense mutations in the gamma subunit of GlcNAc-1-phosphotransferase reported in patients with mucolipidosis III gamma shows that three of the four variants, p.G106S, p.G126S and p.C142Y, caused misfolding of the gamma subunit, while one variant, p.T286M, was normal. The misfolded gamma subunits were retained in the endoplasmic reticulum and failed to rescue the lysosomal targeting of lysosomal acid g... | Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.
van Meel E, Kornfeld S., Free PMC Article | 12/16/2017 |
| we suggest that GNPTG analysis must be performed on gDNA because of the instability of mRNA containing premature stop codons and the occurrence of mRNA editing. The mRNA editing could play an important role in modulating the association between mutant genotype and clinical phenotype. | Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Velho RV, Ludwig NF, Alegra T, Sperb-Ludwig F, Guarany NR, Matte U, Schwartz IV. | 04/8/2017 |
| persistent stuttering is associated with mutations in GNPTG that are generally not found in mucolipidosis. | 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., Free PMC Article | 12/17/2016 |
| GlcNAc-1-phosphotransferase gamma-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit, which is independent on cysteine 70 identified to be responsible for alpha-subunit homodimerization. | Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S. | 08/27/2016 |
| SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons. | 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., Free PMC Article | 11/14/2015 |
| findings expand the mutation spectrum of the GNPTG gene in Mucolipidosis type III gamma (three novel mutations were identified) | Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
Liu S, Zhang W, Shi H, Meng Y, Qiu Z. | 05/3/2014 |
| To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review) | A role for inherited metabolic deficits in persistent developmental stuttering.
Kang C, Drayna D., Free PMC Article | 03/30/2013 |
| two novel heterozygous mutations in GNPTG, including a splice site mutation and a 1-bp deletion in a Chinese family with mucolipidosis type III gamma. | Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.
Gao Y, Yang K, Xu S, Wang C, Liu J, Zhang Z, Yuan M, Luo X, Liu M, Wang QK, Liu JY. | 06/4/2011 |
| results suggest that PRL-3's roles in motility, invasion, and metastasis in colon cancer are critically controlled by the integrin beta1-ERK1/2-MMP2 signaling | Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T. | 04/12/2010 |
| identified mutations in GNPTG gene in subjects with stuttering | Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D., Free PMC Article | 03/15/2010 |
| analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase | Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.
Qian Y, Lee I, Lee WS, Qian M, Kudo M, Canfield WM, Lobel P, Kornfeld S., Free PMC Article | 03/1/2010 |
| The study led to the identification of 11 different mutations in GNPTAB and GNPTG genes in 13 mucolipidosis II and III patients. | 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. | 01/21/2010 |
| novel mutation identified in GNPTG in mucolipidosis type III gamma resulting in truncated but stable gamma-subunit;gamma subunit appears to be involved in regulation of GlcNAc-1-phosphotransferase activity rather than general binding of lysosomal enzymes | 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. | 01/21/2010 |
| The mutational spectrum of the GNPTG gene is strongly influenced by the properties of the local DNA sequence environment. | 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.
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. | 01/21/2010 |