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

By I. Nishino, Jin Fu, K. Tanji, Takeshi Yamada, S. Shimojo, Tateo Koori, M. Mora, J. Riggs, Shin J Oh, Y. Koga and 9 more. Nature, 2000

930 citations recorded by the source corpus.

Subfields: Cell Biology, Pathology and Forensic Medicine, Physiology

View Paper: https://www.semanticscholar.org/paper/b2d3f309efb150d99f0c9438e4362b73c3f44b15

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cell Biology

1. N. Mizushima
2. D. Klionsky
3. T. Yoshimori
4. Y. Ohsumi
5. I. Slaninová
6. Guido Kroemer
7. P. Codogno
8. M. Komatsu

In Pathology and Forensic Medicine

1. E. Eskelinen
2. P. Saftig
3. Guido Kroemer

In Physiology

1. N. Mizushima
2. Guido Kroemer
3. I. Slaninová
4. L. Galluzzi
5. P. Saftig
6. P. Codogno
7. E. Eskelinen
8. M. Komatsu

Citations in the corpus

• Autophagy: Renovation of Cells and Tissues (2011, neutral): “These results indicate that autophagy plays a cell-autonomous role in axonal homeostasis (Komatsu et al., 2007b; Nishiyama et al., 2007).”
• The role of autophagy in cardiomyocytes in the basal state and in response to hemodynamic stress (2007, background): “Mice with a deficiency of lysosome-associated membrane protein-2, a model for Danon disease, show an accumulation of autophagic vacuoles and cardiomyopath”
• Lysosomes as a therapeutic target (2019, background): “Further investigations are needed to support this assertion.”
• Autophagy in the Cellular Energetic Balance (2011, neutral): “Recent studies have revealed that the primary defect is in the ability to deliver the material sequestered in autophagosomes, including glycogen, to lysosomes for degradation (Nishino et al., 2000).”
• Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice (2005, background): “…J O U R N A L O F C E L L B IO L O G Y © The Rockefeller University Press $8.00 The Journal of Cell Biology, Vol. 169, No. 3, May 9, 2005 425–434 http://www.jcb.org/cgi/doi/10.1083/jcb.200412022 JCB: ARTICLE JCB 425 Impairment of starvation-induced and constitutive autophagy in Atg7 -deficient mice”
• The cell biology of lysosomal storage disorders (2004, neutral): “Finally,mutations in the abundant lysosomal protein lysosome-associated membrane protein-2 (LAMP2) cause Danon disease 29 .”
• Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice (2000, result): “This theory is further substantiated by the finding that human LAMP-2 deficienc”
• Autophagy and Mitophagy in Cardiovascular Disease. (2017, background): “Along similar lines, Lamp2 mice—which exhibit defects in various forms of autophagy at the whole-body level—spontaneously developed a vacuolar myopathy affecting the cardiac and skeletal muscle that resembles Danon disease.(28) Moreover, mice engineered to overexpress miR-212 and miR-132—2 miRNAs th”
• Methods for monitoring autophagy. (2004, background): “…may be involved in a certain type of cell death (Clarke, 1990) and human diseases such as neurodegener- ative diseases (Petersen et al., 2001; Ravikumar, Duden, & Rubinsztein, 2002), 1-antitrypsin deficiency (Teckman & Perlmutter, 2000), myopathy (Nishino et al., 2000) and cancer (Qu et al., 2003).”