Cargando…
Adenylosuccinate lyase deficiency
Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. Biochemically this defect manifests by the presence in the biologic fluids of two dephospho...
Autores principales: | Jurecka, Agnieszka, Zikanova, Marie, Kmoch, Stanislav, Tylki-Szymańska, Anna |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341013/ https://www.ncbi.nlm.nih.gov/pubmed/25112391 http://dx.doi.org/10.1007/s10545-014-9755-y |
Ejemplares similares
-
MRI findings of hypomyelination in adenylosuccinate lyase deficiency
por: Kayfan, Samar, et al.
Publicado: (2018) -
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
por: Mastrogiorgio, Gerarda, et al.
Publicado: (2021) -
Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data
por: Ferreira, Carlos R.
Publicado: (2017) -
Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer
por: Zurlo, Giada, et al.
Publicado: (2019) -
Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase
por: Van Laer, Bart, et al.
Publicado: (2018)