Article
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
Nature communications - 9 Jan 2015
Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald I M, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini O G P, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie J L, Sampson J R, Chinnery P, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso J L, Kretzschmar D, Cayouette M, Koenekoop R K
Abstract excerpt
Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is the target of toxic organophosphates that induce human paralysis due to severe axonopathy of large neurons. Mutations in PNPLA6 also cause human spastic...
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