EC Number   |
Application |
Reference |
|---|
   2.7.8.17 | medicine |
AAV-mediated expression of gene GNPTAB in mucolipidosis II, ML II, mice can attenuate bone loss via inhibition of IL-6 production |
739081 |
| 2.7.8.17 | medicine |
mucolipidosis II in cats is caused by a deficiency of N-acetylglucosamine-1-phosphotransferase. All affected cats tested are homozygous for a single base substitution (c.2644C > T) in exon 13 of GNPTAB. The variant results in a premature stop codon (p.Gln882*) which predicts severe truncation and complete dysfunction of the GNPTAB enzyme. About 140 GNPTAB variants have been described in human ML II patients, with 41.3% nonsense/missense mutations, nine occurring in the same gene region as in this feline model |
760799 |
| 2.7.8.17 | medicine |
mucolipidosis patient mutations within the N-terminal transmembrane domain of the alpha subunit of GlcNAc-1-phosphotransferase, i.e. V27D, V28D, A34P, F24V, G26D, E36P, cause either mucolipidosis II or mucolipidosis III alphabeta.Mutations impair endoplasmicreticulum translocation or Golgi retention |
761229 |
| 2.7.8.17 | medicine |
mutations in the GNPTAB and GNPTG genes cause mucolipidosis type II, type III alpha/beta, and type III gamma. Report on 200 published and 58 novel GNPTAB mutations, including frameshift mutations (39%), missense mutations (26%), nonsense mutations (23%), splice defects (9%), and deletions/duplications/insertions/deletion-insertions (3%). The variants are spread throughout the gene, although 25% of the mutations are located in the 1112 bp exon 13 |
761228 |
