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Article

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.

American journal of medical genetics. Part A - 1 May 2018

Shukla Anju, Saneto Russell P, Hebbar Malavika, Mirzaa Ghayda, Girisha Katta M

Abstract excerpt

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 patient with PNPLA8 are associated with mitochondrial-related neurodegeneration. Using whole exome sequencing, we report...

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Source

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Identifiers

PMID: 29681094
DOI: 10.1002/ajmg.a.38687
PMCID: PMC5918416

Genes

PNPLA8
PNPLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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