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TSC1 protein, human

Known as: hamartin protein, human, Hamartin, tuberous sclerosis 1 protein, human 
Hamartin (1164 aa, ~130 kDa) is encoded by the human TSC1 gene. This protein is involved in the negative regulation of signaling.
National Institutes of Health

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Highly Cited
2013
Highly Cited
2013
Epilepsy is a major manifestation of tuberous sclerosis complex (TSC). Everolimus is an mammalian target of rapamycin complex 1… Expand
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Review
2006
Review
2006
BCAAs stimulate protein synthesis in in vitro preparations of skeletal muscle. Likewise, the stimulation of protein synthesis in… Expand
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Highly Cited
2006
Highly Cited
2006
Loss of tuberin, the product of TSC2 gene, increases mammalian target of rapamycin (mTOR) signaling, promoting cell growth and… Expand
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Tuberous Sclerosis Complex (TSC) is a genetic disorder that occurs through the loss of heterozygosity of either TSC1… Expand
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Highly Cited
2002
Highly Cited
2002
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that occurs upon mutation of either the TSC1 or TSC2… Expand
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Highly Cited
2002
Highly Cited
2002
Normal cellular functions of hamartin and tuberin, encoded by the TSC1 and TSC2tumor suppressor genes, are closely related to… Expand
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Highly Cited
2000
Highly Cited
2000
Loss of the tumour-suppressor gene TSC1 is responsible for hamartoma development in tuberous sclerosis complex (TSC), which… Expand
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Highly Cited
2000
Highly Cited
2000
We report here that overexpression of the tuberous sclerosis-1 (TSC1) gene product hamartin results in the inhibition of growth… Expand
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Highly Cited
1999
Highly Cited
1999
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by a broad phenotypic spectrum that includes seizures… Expand
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Highly Cited
1998
Highly Cited
1998
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppressor gene… Expand
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