Published in EMBO J on October 28, 2004
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Free sialic acid storage disease without sialuria. Ann Neurol (2009) 0.87
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Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. Neurogenetics (2005) 0.86
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. Hum Mol Genet (2010) 0.84
G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking. Mol Genet Metab (2007) 0.82
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Intracellular localization of p40, a protein identified in a preparation of lysosomal membranes. Biochem J (2006) 0.81
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Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu Rev Biochem (2003) 13.66
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Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J (2001) 1.83
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Identification of an axonal determinant in the C-terminus of the sodium channel Na(v)1.2. EMBO J (2001) 1.54
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Distal myopathies. Curr Opin Neurol (1999) 1.02
The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit. EMBO J (2002) 0.99
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Brain involvement in Salla disease. AJNR Am J Neuroradiol (1999) 0.95
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. Am J Med Genet A (2003) 0.91
Enhanced binding of the neural siglecs, myelin-associated glycoprotein and Schwann cell myelin protein, to Chol-1 (alpha-series) gangliosides and novel sulfated Chol-1 analogs. J Biol Chem (1999) 0.87
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An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. Clin Genet (2002) 0.84
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. Biochem J (1990) 0.84
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A third vesicular glutamate transporter expressed by cholinergic and serotoninergic neurons. J Neurosci (2002) 2.71
Storage and uptake of D-serine into astrocytic synaptic-like vesicles specify gliotransmission. J Neurosci (2013) 1.82
The vesicular glutamate transporter VGLUT3 synergizes striatal acetylcholine tone. Nat Neurosci (2008) 1.57
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet (2009) 1.55
The SLC36 family: proton-coupled transporters for the absorption of selected amino acids from extracellular and intracellular proteolysis. Pflugers Arch (2003) 1.47
VGLUT3 (vesicular glutamate transporter type 3) contribution to the regulation of serotonergic transmission and anxiety. J Neurosci (2010) 1.29
Molecular and cellular basis of lysosomal transmembrane protein dysfunction. Biochim Biophys Acta (2008) 1.24
Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. Proc Natl Acad Sci U S A (2012) 1.19
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet (2004) 1.14
An extended proteome map of the lysosomal membrane reveals novel potential transporters. Mol Cell Proteomics (2013) 1.13
Severe serotonin depletion after conditional deletion of the vesicular monoamine transporter 2 gene in serotonin neurons: neural and behavioral consequences. Neuropsychopharmacology (2011) 1.03
Postnatal maturation of Na+, K+, 2Cl- cotransporter expression and inhibitory synaptogenesis in the rat hippocampus: an immunocytochemical analysis. Eur J Neurosci (2002) 1.01
Disrupted in renal carcinoma 2 (DIRC2), a novel transporter of the lysosomal membrane, is proteolytically processed by cathepsin L. Biochem J (2011) 0.91
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin. Proc Natl Acad Sci U S A (2012) 0.89
Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin. Biol Cell (2008) 0.89
The transporters GlyT2 and VIAAT cooperate to determine the vesicular glycinergic phenotype. J Neurosci (2007) 0.88
Cellular localization of the vesicular inhibitory amino acid transporter in the mouse and human retina. J Comp Neurol (2002) 0.87
Lysosomal amino acid transporter LYAAT-1 in the rat central nervous system: an in situ hybridization and immunohistochemical study. J Comp Neurol (2003) 0.86
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease. J Mol Med (Berl) (2010) 0.84
A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. J Biol Chem (2012) 0.78
Successful prediction of substrate-binding pocket in SLC17 transporter sialin. J Biol Chem (2012) 0.75