Gasnier B - Search Results

1

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C. Kalatzis V, et al. Among authors: gasnier b. Hum Mol Genet. 2004 Jul 1;13(13):1361-71. doi: 10.1093/hmg/ddh152. Epub 2004 May 5. Hum Mol Genet. 2004. PMID: 15128704

2

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.

Kalatzis V, Cherqui S, Antignac C, Gasnier B. Kalatzis V, et al. Among authors: gasnier b. EMBO J. 2001 Nov 1;20(21):5940-9. doi: 10.1093/emboj/20.21.5940. EMBO J. 2001. PMID: 11689434 Free PMC article.

3

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

Sharifi A, Kousi M, Sagné C, Bellenchi GC, Morel L, Darmon M, Hulková H, Ruivo R, Debacker C, El Mestikawy S, Elleder M, Lehesjoki AE, Jalanko A, Gasnier B, Kyttälä A. Sharifi A, et al. Among authors: gasnier b. Hum Mol Genet. 2010 Nov 15;19(22):4497-514. doi: 10.1093/hmg/ddq381. Epub 2010 Sep 7. Hum Mol Genet. 2010. PMID: 20826447 Free PMC article.

4

Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.

Ruivo R, Bellenchi GC, Chen X, Zifarelli G, Sagné C, Debacker C, Pusch M, Supplisson S, Gasnier B. Ruivo R, et al. Among authors: gasnier b. Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):E210-7. doi: 10.1073/pnas.1115581109. Epub 2012 Jan 9. Proc Natl Acad Sci U S A. 2012. PMID: 22232659 Free PMC article.

5

Functional characterization of wild-type and mutant human sialin.

Morin P, Sagné C, Gasnier B. Morin P, et al. Among authors: gasnier b. EMBO J. 2004 Nov 24;23(23):4560-70. doi: 10.1038/sj.emboj.7600464. Epub 2004 Oct 28. EMBO J. 2004. PMID: 15510212 Free PMC article.

6

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.

Jézégou A, Llinares E, Anne C, Kieffer-Jaquinod S, O'Regan S, Aupetit J, Chabli A, Sagné C, Debacker C, Chadefaux-Vekemans B, Journet A, André B, Gasnier B. Jézégou A, et al. Among authors: gasnier b. Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):E3434-43. doi: 10.1073/pnas.1211198109. Epub 2012 Nov 20. Proc Natl Acad Sci U S A. 2012. PMID: 23169667 Free PMC article.

7

Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.

Ruivo R, Sharifi A, Boubekeur S, Morin P, Anne C, Debacker C, Graziano JC, Sagné C, Gasnier B. Ruivo R, et al. Among authors: gasnier b. Biol Cell. 2008 Sep;100(9):551-9. doi: 10.1042/BC20070166. Biol Cell. 2008. PMID: 18399798

8

Molecular and cellular basis of lysosomal transmembrane protein dysfunction.

Ruivo R, Anne C, Sagné C, Gasnier B. Ruivo R, et al. Among authors: gasnier b. Biochim Biophys Acta. 2009 Apr;1793(4):636-49. doi: 10.1016/j.bbamcr.2008.12.008. Epub 2008 Dec 24. Biochim Biophys Acta. 2009. PMID: 19146888 Free article. Review.

9

Cloning of a functional vesicular GABA and glycine transporter by screening of genome databases.

Sagné C, El Mestikawy S, Isambert MF, Hamon M, Henry JP, Giros B, Gasnier B. Sagné C, et al. Among authors: gasnier b. FEBS Lett. 1997 Nov 10;417(2):177-83. doi: 10.1016/s0014-5793(97)01279-9. FEBS Lett. 1997. PMID: 9395291 Free article.

10

Molecular physiology and pathophysiology of lysosomal membrane transporters.

Sagné C, Gasnier B. Sagné C, et al. Among authors: gasnier b. J Inherit Metab Dis. 2008 Apr;31(2):258-66. doi: 10.1007/s10545-008-0879-9. Epub 2008 Apr 15. J Inherit Metab Dis. 2008. PMID: 18425435 Review.

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