dc.contributor.author | TREACY, EILEEN | en |
dc.date.accessioned | 2014-10-07T14:53:38Z | |
dc.date.available | 2014-10-07T14:53:38Z | |
dc.date.issued | 2014 | en |
dc.date.submitted | 2014 | en |
dc.identifier.citation | Coss KP, Treacy EP, Cotter EJ, Knerr I, Murray DW, Shin YS, Doran PP, Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?, Molecular genetics and metabolism, 113, 3, 2014, 177-87 | en |
dc.identifier.issn | 1096-7192 | en |
dc.identifier.other | Y | en |
dc.identifier.uri | http://hdl.handle.net/2262/71466 | |
dc.description | PUBLISHED | en |
dc.description.abstract | Classical Galactosaemia is a rare disorder of carbohydrate metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). The disease is life-threatening in the neonate, and the only treatment option is life-long dietary restriction of galactose. However, long-term complications persist in treated patients including cognitive impairments, speech and language abnormalities and premature ovarian insufficiency in females. Microarray analysis of T-lymphocytes from treated adult patients identified systemic dysregulation of numerous gene pathways, including the glycosylation, inflammatory and inositol pathways. Analysis of gene expression in patient-derived dermal fibroblasts of patients exposed to toxic levels of galactose, with immunostaining, has further identified the susceptibility of the glycosylation gene alpha-1,2-mannosyltransferase (ALG9) and the inflammatory gene annexin A1 (ANXA1) to increased galactose concentrations. These data suggest that Galactosaemia is a multi-system disorder affecting numerous signalling pathways. | en |
dc.format.extent | 177-87 | en |
dc.language.iso | en | en |
dc.relation.ispartofseries | Molecular genetics and metabolism | en |
dc.relation.ispartofseries | 113 | en |
dc.relation.ispartofseries | 3 | en |
dc.rights | Y | en |
dc.subject | Galactosaemia | en |
dc.subject | Biomarkers | en |
dc.subject | Genomics | en |
dc.subject | Glycosylation | en |
dc.subject | Inflammation | en |
dc.title | Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism? | en |
dc.type | Journal Article | en |
dc.type.supercollection | scholarly_publications | en |
dc.type.supercollection | refereed_publications | en |
dc.identifier.peoplefinderurl | http://people.tcd.ie/eptreacy | en |
dc.identifier.rssinternalid | 97360 | en |
dc.identifier.doi | http://dx.doi.org/10.1016/j.ymgme.2014.08.004 | en |
dc.rights.ecaccessrights | openAccess | |