Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase
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چکیده
منابع مشابه
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase
INTRODUCTION Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target of Rapamycin (mTOR). Common TSC features include brain lesions, such as cortical tubers and subependymal giant cell astrocytomas (SEGAs). However, the current treatment with mTOR inhibitors has critical limitations. We aimed to identify ne...
متن کاملThe tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated t...
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Fanling Integrated Treatment Centre, 6/F, Fanling Health Centre, 2 Pik Fung Road, Fanling, New Territories Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous syndrome, may be caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterised by cutaneous changes, neurologic conditions and the formation of hamartomas in mul...
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ژورنال
عنوان ژورنال: Acta Neuropathologica Communications
سال: 2015
ISSN: 2051-5960
DOI: 10.1186/s40478-015-0225-z