| Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis. | Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis.
Carmona EG, García-Giménez JA, López-Mejías R, Khor CC, Lee JK, Taskiran E, Ozen S, Hocevar A, Liu L, Gorenjak M, Potočnik U, Kiryluk K, Ortego-Centeno N, Cid MC, Hernández-Rodríguez J, Castañeda S, González-Gay MA, Burgner D, Martín J, Márquez A, Spanish IgA Vasculitis Consortium;* International Kawasaki Disease Genetics Consortium., Free PMC Article | 03/19/2022 |
| Crystal Structure of the Mannose-6-Phosphate Uncovering Enzyme. | Crystal Structure of the Mannose-6-Phosphate Uncovering Enzyme.
Gorelik A, Illes K, Nagar B. | 04/17/2021 |
| 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 |
| 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 |
| 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 |
| Mutational analysis of several residues in a highly conserved surface cavity of hUCE revealed that they are essential for function. | Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme.
Das D, Lee WS, Grant JC, Chiu HJ, Farr CL, Vance J, Klock HE, Knuth MW, Miller MD, Elsliger MA, Deacon AM, Godzik A, Lesley SA, Kornfeld S, Wilson IA., Free PMC Article | 08/31/2013 |
| 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 |
| Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering. | Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.
Lee WS, Kang C, Drayna D, Kornfeld S., Free PMC Article | 01/7/2012 |
| identified three mutations in the NAGPA gene associated 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 |
| The mannose 6-phosphate uncovering enzyme participates in the uncovering of the mannose 6-phosphate recognition tag on lysosomal enzymes, a process that facilitates recognition of those enzymes by mannose 6-phosphate receptors to delivery to lysosomes. | Characterization of the TGN exit signal of the human mannose 6-phosphate uncovering enzyme.
Nair P, Schaub BE, Huang K, Chen X, Murphy RF, Griffith JM, Geuze HJ, Rohrer J. | 01/21/2010 |
| synthesis as a proenzyme that is activated by furin [mannose 6-phosphate-uncovering enzyme] | Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin.
Do H, Lee WS, Ghosh P, Hollowell T, Canfield W, Kornfeld S. | 01/21/2010 |