Cargando…
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly
Microcephaly is a devastating condition defined by a small head and small brain compared to the age- and sex-matched population. Mutations in a number of different genes causative for microcephaly have been identified, e.g., MCPH1, WDR62, and ASPM. Recently, mutations in the gene encoding the enzyme...
Autores principales: | Schleinitz, Dorit, Seidel, Anna, Stassart, Ruth, Klammt, Jürgen, Hirrlinger, Petra G., Winkler, Ulrike, Köhler, Susanne, Heiker, John T., Schönauer, Ria, Bialek, Joanna, Krohn, Knut, Hoffmann, Katrin, Kovacs, Peter, Hirrlinger, Johannes |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053511/ https://www.ncbi.nlm.nih.gov/pubmed/30057589 http://dx.doi.org/10.3389/fgene.2018.00245 |
Ejemplares similares
-
A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency
por: Chang, Mario C, et al.
Publicado: (2023) -
Severe Microcephaly and Metabolic Epilepsy due to Asparagine Synthetase Deficiency
por: Saini, Arushi G., et al.
Publicado: (2023) -
Saccharomyces cerevisiae ASN1 and ASN2 are asparagine synthetase paralogs that have diverged in their ability to polymerize in response to nutrient stress
por: Noree, Chalongrat, et al.
Publicado: (2019) -
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency
por: Wang, Chun, et al.
Publicado: (2020) -
Wheat with greatly reduced accumulation of free asparagine in the grain, produced by CRISPR/Cas9 editing of asparagine synthetase gene TaASN2
por: Raffan, Sarah, et al.
Publicado: (2021)