Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction

Deficiency in Sphingosine-1-phosphate lyase (S1P lyase) is associated with a multi-systemic disorder incorporating primary adrenal insufficiency (PAI), steroid resistant nephrotic syndrome and neurological dysfunction. Accumulation of sphingolipid intermediates, as seen with loss of function mutatio...

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Detalles Bibliográficos
Autores principales: Maharaj, A., Williams, J., Bradshaw, T., Güran, T., Braslavsky, D., Casas, J., Chan, L.F., Metherell, L.A., Prasad, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7482430/
https://www.ncbi.nlm.nih.gov/pubmed/32682944
http://dx.doi.org/10.1016/j.jsbmb.2020.105730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7482430/
https://www.ncbi.nlm.nih.gov/pubmed/32682944
http://dx.doi.org/10.1016/j.jsbmb.2020.105730

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