Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

Yoshitaka Tanaka, Gundula Guhde, Anke Suter et al. · Nature · 2000 · 895 citations

Molecular Neuroscience, Physiology, Autophagy +4

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

Lysosomal glycogen storage disease with normal acid maltase

Moris J. Danon, Shin J. Oh, Salvatore DiMauro et al. · Neurology · 1981 · 402 citations

Differential glycosylation and cell surface expression of lysosomal membrane glycoproteins in sublines of a human colon cancer exhibiting distinct metastatic potentials.

Osamu Saitoh, Wen‐Ching Wang, Reuben Lotan et al. · Journal of Biological Chemistry · 1992 · 309 citations · Full text

Glycobiology, Pathology, Polysaccharide +17

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen, Elly Verbeek, Nina Aula et al. · Nature Genetics · 1999 · 292 citations

Anion Transporter, Genetic Disorder, Natural Sciences +12