Article
A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells.
BMC research notes - 27 Feb 2016
Weiher Hans, Pircher Haymo, Jansen-Dürr Pidder, Hegenbarth Silke, Knolle Percy, Grunau Silke, Vapola Miia, Hiltunen J Kalervo, Zwacka Ralf M, Schmelzer Elmon, Reumann Kerstin, Will Hans
Abstract excerpt
Recessive mutations in the MPV17 gene cause mitochondrial DNA depletion syndrome, a fatal infantile genetic liver disease in humans. Loss of function in mice leads to glomerulosclerosis and sensineural deafness accompanied with mitochondrial DNA depletion. Mutations in the yeast homolog Sym1, and in the zebra fish homolog tra cause interesting, but not obviously related phenotypes, although the human gene can...
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