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Keywords: tuberin
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Articles
Biochem Soc Trans (2003) 31 (3): 579–583.
Published: 01 June 2003
... in this setting. We have shown that hamartin interacts with neurofilament light chain (NF-L) and could integrate the neuronal cytoskeleton through its direct interaction with NF-L and ERM (ezrin/radixin/moeisin) proteins. Our unpublished work further documents the binding of tuberin with Pam, a protein associated...
Articles
Biochem Soc Trans (2003) 31 (3): 587–591.
Published: 01 June 2003
...M. Nellist; M.A. Goedbloed; D.J.J. Halley Tuberous sclerosis complex (TSC) is a genetic disorder characterized by seizures, mental disability, renal dysfunction and dermatological abnormalities. The disease is caused by inactivation of either hamartin or tuberin, the products of the TSC1 and TSC2...
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Biochem Soc Trans (2003) 31 (3): 592–596.
Published: 01 June 2003
...J.R. Sampson The tuberous sclerosis complex genes TSC1 and TSC2 were first identified by positional cloning strategies in the heritable human disorder tuberous sclerosis. They encode previously unknown proteins, termed hamartin and tuberin respectively, that form a functional complex...