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SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity
Swaim, CD,
Leyva-Illades, D,
Chen, P,
Mercado, JM,
Zogzas, CE,
Hutchens, S,
Aschner, M,
Mukhopadhyay, S,
Bowman, AB,
Morrisett, RA
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J. Neurosci. |
2014 |
22341971 |
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease
Zhao, T,
Breedveld, GJ,
Rasi, F,
Sanna, A,
Delnooz, C,
Monti, L,
Bonifati, V,
Federico, A,
Quadri, M,
Lu, P,
van de Warrenburg, BP,
Cossu, G,
Willemsen, R,
Battisti, C,
Di Toro Mammarella, L,
Severijnen, LA,
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Mignarri, A,
Punzo, F
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Am. J. Hum. Genet. |
2012 |
22341972 |
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man
Price, V,
Gordon, K,
Mills, PB,
Rideout, A,
Zaki, MS,
Ribeiro, RT,
Clayton, PT,
Singhi, P,
Gospe, SM,
Barsottini, OG,
Wevers, RA,
Dyack, S,
Ibrahim, S,
Chong, WK,
Aulakh, R,
Tuschl, K,
Del Rosario, ML,
Gulab, S
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Am. J. Hum. Genet. |
2012 |