Varied mechanisms underlie the free sialic acid storage disorders (Q28564816)

https://api.crossref.org/works/10.1074%2FJBC.M411295200

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

New prospects for the treatment of lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

The transport systems of mammalian lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Lysosomal transport disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Transmembrane molecular pump activity of Niemann-Pick C1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Organic anion transport is the primary function of the SLC17/type I phosphate transporter family

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

γ-Adaptin Appendage Domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Sialic acid uptake by fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Signals for sorting of transmembrane proteins to endosomes and lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Expression of a renal type I sodium/phosphate transporter (NaPi-1) induces a conductance in Xenopus oocytes permeable for organic and inorganic anions

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Distinct reading of different structural determinants modulates the dileucine-mediated transport steps of the lysosomal membrane protein LIMPII and the insulin-sensitive glucose transporter GLUT4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

The CD3 gamma leucine-based receptor-sorting motif is required for efficient ligand-mediated TCR down-regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Cluster of differentiation antigen 4 (CD4) endocytosis and adaptor complex binding require activation of the CD4 endocytosis signal by serine phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Uptake of glutamate into synaptic vesicles by an inorganic phosphate transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Action of BTN1, the yeast orthologue of the gene mutated in Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Chloride conductance and Pi transport are separate functions induced by the expression of NaPi-1 in Xenopus oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Functional roles of histidine and tyrosine residues in the H(+)-peptide transporter PepT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

A molecular mechanism for energy coupling in a membrane transport protein, the lactose permease of Escherichia coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Amino acid distributions in integral membrane protein structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Mutant (delta F508) cystic fibrosis transmembrane conductance regulator Cl- channel is functional when retained in endoplasmic reticulum of mammalian cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Calcium-pump inhibitors induce functional surface expression of Delta F508-CFTR protein in cystic fibrosis epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M411295200