Sentences with phrase «in tuberous sclerosis complex»

Our research centers upon the proteins affected in tuberous sclerosis complex (TSC) and spinal muscular atrophy (SMA)-- two neurological disorders whose genetic basis is well understood but whose cell biology remains unknown.

Not exact matches

«Drug reduces seizure frequency in children with tuberous sclerosis complex.»

Liu, who was an investigator at the Children's National Medical Center in Washington DC during the research, decided to study tissues removed from eight patients with either focal cortical dysplasia or tuberous sclerosis complex to see if she and her co-authors could discern what might be going awry at the molecular level.

A tool intended to detect signs of autism in high - risk infants can be used to help identify and treat patients with tuberous sclerosis complex (TSC), a genetic disorder, who most need early intervention.

Among the other more common neurocutaneous disorders are tuberous sclerosis complex, which affects about 1 in 5,8000 newborns and Sturge - Weber syndrome, which affects between 1 in 20,000 and 1 in 50,000 newborns.

In a new study, researchers at Boston Children's Hospital used stem cell technology to create cerebellar cells known as Purkinje cells from patients with tuberous sclerosis complex (TSC), a genetic syndrome that often includes ASD - like features.

Three main pathways has been demonstrated so far to control lifespan in mammals involving: insulin / insulin like growth factor1 (IGF1), tuberous sclerosis complex (TSC) / mammalian target of rapamycin (mTOR), and sirtuins.

Cellular and molecular basis of synaptic dysfunction and aberrant behavior in autism, tuberous sclerosis complex, and Angelman syndrome

Liu, who was an investigator at the Children's National Medical Center in Washington during the research, decided to study tissues removed from eight patients with either focal cortical dysplasia or tuberous sclerosis complex to see if she and her co-authors could discern what might be going awry at the molecular level.

Abbreviations: Aβ, amyloid β - peptide; AD, Alzheimer's disease; ALS, amyotrophic lateral sclerosis; Ambra1, activating molecule in Beclin -1-regulated autophagy; AMPK, AMP - activated protein kinase; APP, amyloid precursor protein; AR, androgen receptor; Atg, autophagy - related; AV, autophagic vacuole; Bcl, B - cell lymphoma; BH3, Bcl - 2 homology 3; CaMKKβ, Ca2 + - dependent protein kinase kinase β; CHMP2B, charged multivesicular body protein 2B; CMA, chaperone - mediated autophagy; 2 ′ 5 ′ ddA, 2 ′, 5 ′ - dideoxyadenosine; deptor, DEP - domain containing mTOR - interacting protein; DRPLA, dentatorubral pallidoluysian atrophy; 4E - BP1, translation initiation factor 4E - binding protein - 1; Epac, exchange protein directly activated by cAMP; ER, endoplasmic reticulum; ERK1 / 2, extracellular - signal - regulated kinase 1/2; ESCRT, endosomal sorting complex required for transport; FAD, familial AD; FDA, U.S. Food and Drug Administration; FIP200, focal adhesion kinase family - interacting protein of 200 kDa; FoxO3, forkhead box O3; FTD, frontotemporal dementia; FTD3, FTD linked to chromosome 3; GAP, GTPase - activating protein; GR, guanidine retinoid; GSK3, glycogen synthase kinase 3; HD, Huntington's disease; hiPSC, human induced pluripotent stem cell; hVps, mammalian vacuolar protein sorting homologue; IKK, inhibitor of nuclear factor κB kinase; IMPase, inositol monophosphatase; IP3R, Ins (1,4,5) P3 receptor; I1R, imidazoline - 1 receptor; JNK1, c - Jun N - terminal kinase 1; LC3, light chain 3; LD, Lafora disease; L - NAME, NG - nitro - L - arginine methyl ester; LRRK2, leucine - rich repeat kinase 2; MIPS, myo - inositol -1-phosphate synthase; mLST8, mammalian lethal with SEC13 protein 8; MND, motor neuron disease; mTOR, mammalian target of rapamycin; mTORC, mTOR complex; MVB, multivesicular body; NAC, N - acetylcysteine; NBR1, neighbour of BRCA1 gene 1; NOS, nitric oxide synthase; p70S6K, ribosomal protein S6 kinase - 1; PD, Parkinson's disease; PDK1, phosphoinositide - dependent kinase 1; PE, phosphatidylethanolamine; PI3K, phosphoinositide 3 - kinase; PI3KC1a, class Ia PI3K; PI3KC3, class III PI3K; PI3KK, PI3K - related protein kinase; PINK1, PTEN - induced kinase 1; PKA, protein kinase A; PLC, phospholipase C; polyQ, polyglutamine; PS, presenilin; PTEN, phosphatase and tensin homologue deleted from chromosome 10; Rag, Ras - related GTP - binding protein; raptor, regulatory - associated protein of mTOR; Rheb, Ras homologue enriched in brain; rictor, rapamycin - insensitive companion of mTOR; SBMA, spinobulbar muscular atrophy; SCA, spinocerebellar ataxia; SLC, solute carrier; SMER, small - molecule enhancer of rapamycin; SMIR, small - molecule inhibitor of rapamycin; SNARE, N - ethylmaleimide - sensitive factor - attachment protein receptor; SOD1, copper / zinc superoxide dismutase 1; TFEB, transcription factor EB; TOR, target of rapamycin; TSC, tuberous sclerosis complex; ULK1, UNC -51-like kinase 1; UVRAG, UV irradiation resistance - associated gene; VAMP, vesicle - associated membrane protein; v - ATPase, vacuolar H + - ATPase; Vps, vacuolar protein sorting

In addition to fragile X syndrome, my laboratory also has conducted studies to determine whether the signaling cascades that normally are required for long - lasting synaptic plasticity and memory are altered in mouse models of several developmental disorders, iincluding autism spectrum disorder (ASD), intellectual disability (ID), tuberous sclerosis complex (TSC), and Angelman syndromIn addition to fragile X syndrome, my laboratory also has conducted studies to determine whether the signaling cascades that normally are required for long - lasting synaptic plasticity and memory are altered in mouse models of several developmental disorders, iincluding autism spectrum disorder (ASD), intellectual disability (ID), tuberous sclerosis complex (TSC), and Angelman syndromin mouse models of several developmental disorders, iincluding autism spectrum disorder (ASD), intellectual disability (ID), tuberous sclerosis complex (TSC), and Angelman syndrome.

His primary research interest is in diagnosis and treatment of neurogenetic disorders, especially phakomatoses such as neurofibromatosis the tuberous sclerosis complex.

This treatment has been shown to be successful in treating a wide range of seizure types and syndromes (references 1, 2, 3) although may be particularly beneficial in myoclonic epilepsies, infantile spasms and tuberous sclerosis complex (reference 4).