Article
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
Molecular and cellular biology - 1 Jan 2004
Sinasac David S, Moriyama Mitsuaki, Jalil M Abdul, Begum Laila, Li Meng Xian, Iijima Mikio, Horiuchi Masahisa, Robinson Brian H, Kobayashi Keiko, Saheki Takeyori, Tsui Lap-Chee
Abstract excerpt
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of citrin leads to a liver-specific, quantitative decrease of argininosuccinate synthetase (ASS), causing hyperammonemia and citrullinemia. To investigate the physiological role of citrin and the development of CTLN2, an...
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