Publications

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Showing 81 - 85 results of 85

2000

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

J. Mykkanen, D. Torrents, M. Pineda, M. Camps, Y. ME, N. Horelli-Kuitunen, K. Huoponen, M. Heinonen, J. Oksanen, O. Simell, S. ML, A. Zorzano, M. Palacín, and P. Aula

1999

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

L. Feliubadalo, M. Font, J. Purroy, F. Rousaud, X. Estivill, V. Nunes, N. Reig, E. Fernández, R. Estevez, M. Pineda, D. Torrents, M. Camps, J. Lloberas, A. Zorzano, and M. Palacín
Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids.

M. Pineda, E. Fernández, D. Torrents, R. Estevez, C. López, M. Camps, J. Lloberas, A. Zorzano, and M. Palacín
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

D. Torrents, J. Mykkanen, M. Pineda, L. Feliubadalo, R. Estevez, R. De Cid, P. Sanjurjo, A. Zorzano, V. Nunes, K. Huoponen, A. Reinikainen, O. Simell, S. ML, P. Aula, and M. Palacín

1998

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

D. Torrents, R. Estevez, M. Pineda, E. Fernández, J. Lloberas, YB. Shi, A. Zorzano, and M. Palacín

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