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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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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| 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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