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 · 902 citations · Full text

Life Sciences, Biochemistry, Cell Biology +9

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

Margaret Town, G Jean, Stéphanie Cherqui et al. · Nature Genetics · 1998 · 642 citations

Medicine, Genetics, Molecular Genetics +4

Lysosomal glycogen storage disease with normal acid maltase

Moris J. Danon, Shin J. Oh, Salvatore DiMauro et al. · Neurology · 1981 · 406 citations

Life Sciences, Biochemistry, Pathology +17

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

Life Sciences, Biochemistry, Oncology +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 · 293 citations

Life Sciences, Genetics, Molecular Biology +5