The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Links

 

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]
 
WikiGenes - Universities