EC Number   |
Application |
Reference |
|---|
   2.4.1.259 | medicine |
ALG9 homozygous splice variant NM_024740.2: c.1173+2T4A causes skipping of exon 10, leading to shorter RNA and resulting in an increase in monoglycosylated transferrin. Patients show a lethal skeletal dysplasia with visceral malformations as the most severe phenotype, i.e. Gillessen-Kaesbach-Nishimura skeletal dysplasia |
759140 |
| 2.4.1.259 | medicine |
in a patient with homozygous mutation in ALG9, c.860A > G, i.e. Y287C, prenatally, dysmorphic features, numerous renal cysts and minor cardiac malformations were detected. Postnatally, dysmorphic features include shallow orbits, micrognathia, hypoplastic nipples, talipes equinovarus, lipodystrophy and cutis marmorata |
759780 |
| 2.4.1.259 | medicine |
inactivation of Alg9 results in impaired maturation and defective glycosylation of polycystin-1. Seven of eight (88%) cases selected have at least four kidney cysts, compared with none in matched controls |
759415 |
| 2.4.1.259 | medicine |
patients with ALG9-congenital disorder of glycosylation present with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia. One patient presented with nonimmune hydrops fetalis, showing global atrophy with delayed myelination caused by homozygous mutation c.1075G>A, i.e. E359K |
759695 |
| 2.4.1.259 | medicine |
T-lymphocytes from adult patients suffering classical galactosaemia identified systemic dysregulation of numerous gene pathways, including the glycosylation, inflammatory and inositol pathways. The glycosylation gene alpha-1,2-mannosyltransferase (ALG9) and the inflammatory gene annexin A1 (ANXA1) are susceptible to increased galactose concentrations. The expression of ALG9 is increased by 4.3fold in Galactosaemia versus healthy controls. Expression of Alg9 grown in galactose-free media is decreased significantly Galactosaemia dermal fibroblasts cell-lines at 30 min, compared with normal dermal fibroblast cells |
736816 |
