Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation

Michael R. Betts, Jason M. Brenchley, David A. Price et al. · Journal of Immunological Methods · 2003 · 1.6K citations

Viable Identification, Autoimmune Disease, Flow Cytometric Assay +9

A Receptor for the Selective Uptake and Degradation of Proteins by Lysosomes

Ana María Cuervo, J. Fred Dice · Science · 1996 · 942 citations

Proteasome, Molecular Biology, Endocytic Pathway +17

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

Ichizo Nishino, Jin Fu, Kurenai Tanji et al. · Nature · 2000 · 936 citations

Ophthalmology, Medicine, Pathology +3

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