@artikel{Prabhakar201918,
tajuk = {Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1},
pengarang = {S Prabhakar and P S Cheah and X Zhang and M Zinter and M Gianatasio and E Hudry and R T Bronson and D J Kwiatkowski and A Stemmer-Rachamimov and C A Maguire and M Sena-Esteves and B A Tannous and X O Breakefield},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85070908794&doi=10.1016%2fj.omtm.2019.08.003&rakan kongsi = 40&md5=b169187dde0d3b05f8a9d5295a4ad8c4},
doi = {10.1016/j.omtm.2019.08.003},
terbitan = {23290501},
tahun = {2019},
tarikh = {2019-01-01},
jurnal = {Molecular Therapy - Methods and Clinical Development},
isi padu = {15},
halaman = {18-26},
penerbit = {Akhbar Sel},
abstrak = {Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, masing-masing. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Neurological manifestations in TSC include intellectual disability, autisme, hydrocephalus, and epilepsy. In a stochastic mouse model of TSC1 brain lesions, complete loss of Tsc1 is achieved in homozygous Tsc1-floxed mice in a subpopulation of neural cells in the brain by intracerebroventricular (i.c.v.) injection at birth of an adeno-associated virus (AAV) vector encoding Cre recombinase. This results in median survival of 38 days and brain pathology, including subependymal lesions and enlargement of neuronal cells. Remarkably, when these mice were injected intravenously on day 21 with an AAV9 vector encoding hamartin, most survived at least up to 429 days in apparently healthy condition with marked reduction in brain pathology. Oleh itu, a single intravenous administration of an AAV vector encoding hamartin restored protein function in enough cells in the brain to extend lifespan in this TSC1 mouse model. © 2019},
nota = {dipetik oleh 2},
kata kunci = {Adeno Associated Virus, Adeno Associated Virus Vector, Animal Experiment, Animal Model, Artikel, Beta Actin, Blood Brain Barrier, Berat badan, Body Weight Gain, Brain Nerve Cell, Brain Ventricle, Percambahan Sel, Complementary DNA, Kajian Terkawal, Cre Recombinase, Drug Efficacy, Perempuan, Gen, Gene Replacement Therapy, Hamartin, HEK293 Cell Line, Hydrocephalus, Immunohistochemistry, Inverted Terminal Repeat, Long Term Care, Lelaki, Motor Activity, Motor Performance, Tetikus, Bukan Manusia, Jurnal Keutamaan, Promoter Region, Fungsi Protein, Protein Phosphorylation, Quantitative Analysis, Subventricular Zone, Survival Time, Tuberous Sclerosis, Tuberous Sclerosis Type 1, Vascularization, Viral Gene Delivery System},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Gallagher201531,
tajuk = {Ankrd11 adalah pengatur kromatin yang terlibat dalam autisme yang penting untuk perkembangan saraf},
pengarang = {D Gallagher dan A Voronova dan M A Zander dan G I Cancino dan A Bramall dan M P Krause dan C Abad dan M Tekin dan P M Neilsen dan D F Callen dan S W Scherer dan G M Keller dan D R Kaplan dan K Walz dan F D Miller},
url = {https://www.scopus.com/inward/record.uri?eid = 2-s2.0-84922343890&doi = 10.1016% 2fj.devcel.2014.11.031&rakan kongsi = 40&md5 = ad7b8bd3ead790f092e1d8a276d4f25c},
doi = {10.1016/j.devcel.2014.11.031},
terbitan = {15345807},
tahun = {2015},
tarikh = {2015-01-01},
jurnal = {Sel Perkembangan},
isi padu = {32},
nombor = {1},
halaman = {31-42},
penerbit = {Akhbar Sel},
abstrak = {Ankrd11 adalah pengatur kromatin yang berpotensi terlibat dalam perkembangan saraf dan gangguan spektrum autisme (ASD) tanpa fungsi yang diketahui di otak. Di sini, kami menunjukkan bahawa pengurangan Ankrd11 dalam mengembangkan prekursor saraf kortikal manusia atau manusia menyebabkan penurunan percambahan, neurogenesis berkurang, dan kedudukan neuron yang tidak betul. Fenotip selular yang serupa dan tingkah laku seperti ASD yang menyimpang diperhatikan pada tikus Yoda yang membawa mutasi titik dalam domain pengikat HDAC Ankrd11. Selaras dengan peranan untuk Ankrd11 dalam asetilasi histon, Ankrd11 dikaitkan dengan kromatin dan colocalized dengan HDAC3, dan ungkapan dan asetilasi histon gen sasaran Ankrd11 diubah pada pendahulu saraf Yoda. Lebih-lebih lagi, penurunan proliferasi prekursor yang dimediasi oleh Ankrd11 berjaya diselamatkan dengan menghalang aktiviti histon asetiltransferase atau menyatakan HDAC3. Oleh itu, Ankrd11 adalah pengatur kromatin penting yang mengawal asetilasi histon dan ekspresi gen semasa perkembangan saraf, sehingga memberikan penjelasan yang mungkin untuk kaitannya dengan disfungsi kognitif dan ASD. © 2015 Elsevier Inc.},
nota = {dipetik oleh 52},
kata kunci = {Asetilasi, Tingkah Laku Haiwan, Sel Haiwan, Haiwan, Protein Ankrd11, Ankyrin, Domain Ulangan Ankyrin yang Mengandungi Protein 11, Artikel, Autisme, Gangguan Spektrum Autisme, Kelakuan, Penanda Biologi, Meletup, Budaya Sel Otak, Kultur sel, Pembezaan Sel, Percambahan Sel, Sel, Kimia, Kromatin, Immunoprecipitation Chromatin, Berbudaya, Protein Mengikat DNA, Microarray DNA, Protein Pengikat DNA, Aktiviti Enzim, Perempuan, Gen, Profil Ekspresi Gen, Penyasaran Gen, Genetik, Histone, Asetilasi Histone, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Deacetylases Histone, Histones, Manusia, Sel Manusia, Imunoprecipitasi, Utusan, Messenger RNA, Metabolisme, Tikus, Tetikus, Murinae, Mus, Pembezaan Sel Saraf, Pembangunan Sistem Saraf, Neurogenesis, Bukan Manusia, Analisis Urutan Array Oligonukleotida, Patologi, Fenotip, Fisiologi, Titik Mutasi, Pasca Terjemahan, Jurnal Keutamaan, Ekspresi Protein, Pemprosesan Protein, Tindak balas Rantai Polimerase Masa Nyata, Tindak balas Rantai Polimerase Transkrip terbalik, Reaksi Rantai Polimerase Transkripsi Berbalik, RNA, Kecil Mengganggu, RNA Mengganggu Kecil, Dadah yang tidak dikelaskan, Barat, Blotting Barat},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Cheah2012451,
tajuk = {Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency},
pengarang = {P -S Cheah and H S Ramshaw and P Q Thomas and K Toyo-Oka and X Xu and S Martin and P Coyle and M A Guthridge and F Stomski and M Van Den Buuse and A Wynshaw-Boris and A F Lopez and Q P Schwarz},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84859007028&doi=10.1038%2fmp.2011.158&rakan kongsi = 40&md5=7f507fef31a192a10b3cde7bf69b5442},
doi = {10.1038/mp.2011.158},
terbitan = {13594184},
tahun = {2012},
tarikh = {2012-01-01},
jurnal = {Molecular Psychiatry},
isi padu = {17},
nombor = {4},
halaman = {451-466},
abstrak = {Complex neuropsychiatric disorders are believed to arise from multiple synergistic deficiencies within connected biological networks controlling neuronal migration, axonal pathfinding and synapse formation. Di sini, we show that deletion of 14-3-3ζ causes neurodevelopmental anomalies similar to those seen in neuropsychiatric disorders such as schizophrenia, autism spectrum disorder and bipolar disorder. 14-3-3ζ-Deficient mice displayed striking behavioural and cognitive deficiencies including a reduced capacity to learn and remember, hyperactivity and disrupted sensorimotor gating. These deficits are accompanied by subtle developmental abnormalities of the hippocampus that are underpinned by aberrant neuronal migration. Significantly, 14-3-3ζ- deficient mice exhibited abnormal mossy fibre navigation and glutamatergic synapse formation. The molecular basis of these defects involves the schizophrenia risk factor, DISC1, which interacts isoform specifically with 14-3-3ζ. Our data provide the first evidence of a direct role for 14-3-3ζ deficiency in the aetiology of neurodevelopmental disorders and identifies 14-3-3ζ as a central risk factor in the schizophrenia protein interaction network. © 2012 Macmillan Publishers Limited All rights reserved.},
nota = {dipetik oleh 58},
kata kunci = {14-3-3 Proteins, Animal Experiment, Animal Model, Animal Tissue, Haiwan, Artikel, Autisme, Gangguan Tingkah Laku, Bipolar Disorder, Otak, Cell Movement, Sel, Cognitive Defect, Kajian Terkawal, Berbudaya, Disease Models, Disrupted in Schizophrenia 1 Protein, Embryo, Perempuan, Gen, Gene Deletion, Kecenderungan Genetik kepada Penyakit, Glutamic Acid, Hippocampal Mossy Fiber, Hippocampus, Manusia, Hiperaktif, Inbred C57BL, Isoprotein, Knockout, Belajar, Lelaki, Maze Learning, Memory, Tikus, Motor Activity, Tetikus, Neurogenesis, Neuronal Migration Disorder, Neurons, Neuropsychiatry, Bukan Manusia, Jurnal Keutamaan, Protein 14-3-3, Protein 14-3-3 Zeta, Protein Deficiency, Protein Interaction, Recognition, Faktor risiko, Skizofrenia, Sensory Gating, Synapse, Dadah yang tidak dikelaskan},
pubstate = {diterbitkan},
tppubtype = {artikel}
}