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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene: 

ATP13A2 - ATPase type 13A2

 
 

Lysosomal protein mutated in a familial recessive form of parkinsonism with dementia (Kufor-Rakeb syndrome) [1], and certain forms of neuronal ceroid lipofuscinosis [2].

 

ATP13A2 knockdown models of recessive parkinsonism exhibit mitochondrial abnormalities [3] [4], due to suppression of autophagic quality control of mitochondria [3]. Increased sensitivity to cations such as manganese have also been reported [5] [6]

References

  1. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Dehay, B., Ramirez, A., Martinez-Vicente, M., Perier, C., Canron, M.H., Doudnikoff, E., Vital, A., Vila, M., Klein, C., Bezard, E. Proc. Natl. Acad. Sci. U. S. A. (2012) [Pubmed]
  2. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Bras, J., Verloes, A., Schneider, S.A., Mole, S.E., Guerreiro, R.J. Hum. Mol. Genet. (2012) [Pubmed]
  3. ATP13A2 regulates mitochondrial bioenergetics through macroautophagy. Gusdon, A.M., Zhu, J., Van Houten, B., Chu, C.T. Neurobiol. Dis. (2012) [Pubmed]
  4. ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. Grünewald, A., Arns, B., Seibler, P., Rakovic, A., Münchau, A., Ramirez, A., Sue, C.M., Klein, C. Neurobiol. Aging. (2012) [Pubmed]
  5. Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity. Gitler, A.D., Chesi, A., Geddie, M.L., Strathearn, K.E., Hamamichi, S., Hill, K.J., Caldwell, K.A., Caldwell, G.A., Cooper, A.A., Rochet, J.C., Lindquist, S. Nat. Genet. (2009) [Pubmed]
  6. Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. Tan, J., Zhang, T., Jiang, L., Chi, J., Hu, D., Pan, Q., Wang, D., Zhang, Z. J. Biol. Chem. (2011) [Pubmed]
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