A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia

Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration

(2021) Suzena Masih et al.   Molecular Syndromology

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

(2019) V. Jagannathan et al.   ANIMAL GENETICS

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

(2018) Anju Shukla et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Calcium-independent phospholipase A2γ (iPLA2γ) and its roles in cellular functions and diseases

(2018) Shuntaro Hara et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The phospholipase iPLA2γ is a major mediator releasing oxidized aliphatic chains from cardiolipin, integrating mitochondrial bioenergetics and signaling

(2017) Gao-Yuan Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2 γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

(2015) Carol J. Saunders et al.   HUMAN MUTATION

Canine Hereditary Ataxia

(2014) Ganokon Urkasemsin et al.   VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE

Genetic Ablation of Calcium-independent Phospholipase A2γ Leads to Alterations in Hippocampal Cardiolipin Content and Molecular Species Distribution, Mitochondrial Degeneration, Autophagy, and Cognitive Dysfunction

(2009) David J. Mancuso et al.   JOURNAL OF BIOLOGICAL CHEMISTRY