Nephropathic Cystinosis

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

Margaret Town, G Jean, Stéphanie Cherqui et al. · Nature Genetics · 1998 · 637 citations

Integral Membrane Protein, Protein Secretion, Nephropathic Cystinosis +10

Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

W. A. Gahl, Nava Bashan, Frank Tietze et al. · Science · 1982 · 362 citations

Protein Secretion, Pathology, Cytoskeleton +16

Standard for clinical electroretinography (1999 update)

Michael F. Marmor, Eberhart Zrenner · Documenta Ophthalmologica · 1998 · 337 citations

Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.

Jess G. Thoene, Robert G. Oshima, J.C. Crawhall et al. · Journal of Clinical Investigation · 1976 · 335 citations · Full text

Molecular Pharmacology, Glomerulonephritis, Urology +12

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

Vasiliki Kalatzis · The EMBO Journal · 2001 · 329 citations · Full text

Protein Secretion, Signal Transduction, Molecular Physiology +9