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A Neurodegenerative Mitochondrial Disease Phenotype Due to Biallelic Loss-of-function Variants in PNPLA8 Encoding Calcium-independent Phospholipase A2γ

Animal studies have demonstrated the critical roles of the patatin-like protein family plays in cellular growth, lipid homeostasis and second messenger signaling the nervous system. Of the nine known calcium-independent phospholipase A2γ, only PNPLA2, PNLPA6, PNPLA9 and most recently a single patien...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5918416/
https://ncbi.nlm.nih.gov/pubmed/29681094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38687
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