Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. (full – 2011) http/www.ncbi.nlm.nih.gov/pmc/articles/PMC2933347/?toolubmed
The serine hydrolases MAGL, ABHD6 and ABHD12 as guardians of 2â€arachidonoylglycerol signalling through cannabinoid receptors (full – 2011) http/onlinelibrary.wiley.com/doi/10.1111/j.1748-1716.2011.02280.x/full
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 (full – 2012) http/www.ojrd.com/content/7/1/59
Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects (abst – 2013) http/www.ncbi.nlm.nih.gov/pubmed/24027063
Discovery of triterpenoids as reversible inhibitors of α/β-hydrolase domain containing 12 (ABHD12). (full – 2014) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045134/
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration (abst – 2014) http://www.ncbi.nlm.nih.gov/pubmed/24697911
The serine hydrolases MAGL, ABHD6 and ABHD12 as guardians of 2â€arachidonoylglycerol signalling through cannabinoid receptors (full – 2011) http/onlinelibrary.wiley.com/doi/10.1111/j.1748-1716.2011.02280.x/full
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 (full – 2012) http/www.ojrd.com/content/7/1/59
Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects (abst – 2013) http/www.ncbi.nlm.nih.gov/pubmed/24027063
Discovery of triterpenoids as reversible inhibitors of α/β-hydrolase domain containing 12 (ABHD12). (full – 2014) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045134/
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration (abst – 2014) http://www.ncbi.nlm.nih.gov/pubmed/24697911