Mutations in SLC25A1, encoding the mitochondrial citrate carrier, cause neuromuscular junction transmission defect

Autor: Pasquale Scarcia a, Giuseppina Zampi b, Vito Porcelli a, Ruggiero Gorgoglione a, Ciro Leonardo Pierri a, Anna De Grassi a, Ann Sadaa c, Orly Elpeleg c, Amina Chaouch d, Hanns Lochmuller d, Elia Di Schiavi b, Luigi Palmieri a, e

Publikováno v: Biochimica et biophysica acta. Bioenergetics (2016). doi:10.1016
info:cnr-pdr/source/autori:Pasquale Scarcia a, Giuseppina Zampi b, Vito Porcelli a, Ruggiero Gorgoglione a, Ciro Leonardo Pierri a, Anna De Grassi a, Ann Sadaa c, Orly Elpeleg c, Amina Chaouch d, Hanns Lochmuller d, Elia Di Schiavi b, Luigi Palmieri a, e,/titolo:Mutations in SLC25A1, encoding the mitochondrial citrate carrier, cause neuromuscular junction transmission defect/doi:10.1016/rivista:Biochimica et biophysica acta. Bioenergetics/anno:2016/pagina_da:/pagina_a:/intervallo_pagine:/volume

The mitochondrial citrate carrier (CIC) encoded by the SLC25A1 gene, catalyzes the export of citrate from mitochondria to the cytosol where it is broken into into acetyl-CoA and oxaloacetate. By exome sequencing we identified for the first time two p

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http://www.sciencedirect.com/science/article/pii/S0005272816304777