Beyond indigestion: emerging roles for lysosome-based signaling in human disease.

作者: Shawn M Ferguson

DOI: 10.1016/J.CEB.2015.04.014

关键词:

摘要: Lysosomes are becoming increasingly recognized as a hub that integrates diverse signals in order to control multiple aspects of cell physiology. This is illustrated by the discovery growing number lysosome-localized proteins respond changes growth factor and nutrient availability regulate mTORC1 signaling well identification MiT/TFE transcription factors (MITF, TFEB TFE3) shuttle between lysosomes nucleus elicit transcriptional response ongoing lysosome status. These findings have been paralleled advances human genetics connect mutations genes involved lysosomal broad range illnesses ranging from cancer neurological disease. review summarizes these new discoveries at interface biology

参考文章(95)
Bernd A. Neubauer, Dennis Lal, Eva M. Reinthaler, Julian Schubert, Hiltrud Muhle, Erik Riesch, Gerhard Kluger, Kamel Jabbari, Amit Kawalia, Christine Bäumel, Hans Holthausen, Andreas Hahn, Martha Feucht, Birgit Neophytou, Edda Haberlandt, Felicitas Becker, Janine Altmüller, Holger Thiele, Johannes R. Lemke, Holger Lerche, Peter Nürnberg, Thomas Sander, Yvonne Weber, Fritz Zimprich, DEPDC5 mutations in genetic focal epilepsies of childhood Annals of Neurology. ,vol. 75, pp. 788- 792 ,(2014) , 10.1002/ANA.24127
Teppei Nishii, Mikiko Tanabe, Reiko Tanaka, Tetsuhiro Matsuzawa, Koji Okudela, Akinori Nozawa, Yukio Nakatani, Mitsuko Furuya, Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt‐Hogg‐Dubé syndrome Pathology International. ,vol. 63, pp. 45- 55 ,(2013) , 10.1111/PIN.12028
Ingrid E. Scheffer, Sarah E. Heron, Brigid M. Regan, Simone Mandelstam, Douglas E. Crompton, Bree L. Hodgson, Laura Licchetta, Federica Provini, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G. Ricos, Samuel F. Berkovic, Leanne M. Dibbens, Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology. ,vol. 75, pp. 782- 787 ,(2014) , 10.1002/ANA.24126
Clifford M. Takemoto, Martin A. Horstmann, Daniel Z. Fisher, E. Roydon Price, David E. Fisher, Timothy J. Hemesath, Timothy J. Hemesath, Audrey G. Wells, Min Wu, c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi Genes & Development. ,vol. 14, pp. 301- 312 ,(2000) , 10.1101/GAD.14.3.301
Frances M. Platt, Barry Boland, Aarnoud C. van der Spoel, The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. Journal of Cell Biology. ,vol. 199, pp. 723- 734 ,(2012) , 10.1083/JCB.201208152
Saeko Ishida, Fabienne Picard, Gabrielle Rudolf, Eric Noé, Guillaume Achaz, Pierre Thomas, Pierre Genton, Emeline Mundwiller, Markus Wolff, Christian Marescaux, Richard Miles, Michel Baulac, Edouard Hirsch, Eric Leguern, Stéphanie Baulac, Mutations of DEPDC5 cause autosomal dominant focal epilepsies Nature Genetics. ,vol. 45, pp. 552- 555 ,(2013) , 10.1038/NG.2601
Chongmin Huan, Deepa Sashital, Tiruneh Hailemariam, Matthew L. Kelly, Christopher A. J. Roman, Renal carcinoma-associated transcription factors TFE3 and TFEB are leukemia inhibitory factor-responsive transcription activators of E-cadherin. Journal of Biological Chemistry. ,vol. 280, pp. 30225- 30235 ,(2005) , 10.1074/JBC.M502380200
Jinyan Du, Hans R. Widlund, Martin A. Horstmann, Sridhar Ramaswamy, Ken Ross, Wade E. Huber, Emi K. Nishimura, Todd R. Golub, David E. Fisher, Critical role of CDK2 for melanoma growth linked to its melanocyte-specific transcriptional regulation by MITF Cancer Cell. ,vol. 6, pp. 565- 576 ,(2004) , 10.1016/J.CCR.2004.10.014
Hisashi Hasumi, Masaya Baba, Seung-Beom Hong, Yukiko Hasumi, Ying Huang, Masahiro Yao, Vladimir A. Valera, W. Marston Linehan, Laura S. Schmidt, Identification and characterization of a novel folliculin-interacting protein FNIP2 Gene. ,vol. 415, pp. 60- 67 ,(2008) , 10.1016/J.GENE.2008.02.022
Nivetha Ramachandran, Iulia Munteanu, Peixiang Wang, Alessandra Ruggieri, Jennifer J. Rilstone, Nyrie Israelian, Taline Naranian, Paul Paroutis, Ray Guo, Zhi-Ping Ren, Ichizo Nishino, Brigitte Chabrol, Jean-Francois Pellissier, Carlo Minetti, Bjarne Udd, Michel Fardeau, Chetankumar S. Tailor, Don J. Mahuran, John T. Kissel, Hannu Kalimo, Nicolas Levy, Morris F. Manolson, Cameron A. Ackerley, Berge A. Minassian, VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy Acta Neuropathologica. ,vol. 125, pp. 439- 457 ,(2013) , 10.1007/S00401-012-1073-6