@article{Prabhakar201918,
title = {Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1},
author = {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&partnerID=40&md5=b169187dde0d3b05f8a9d5295a4ad8c4},
doi = {10.1016/j.omtm.2019.08.003},
issn = {23290501},
year = {2019},
date = {2019-01-01},
journal = {Molecular Therapy - Methods and Clinical Development},
volume = {15},
pages = {18-26},
publisher = {Cell Press},
abstract = {Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, respectively. 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, autism, 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. Thus, 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},
note = {cited By 2},
keywords = {Adeno Associated Virus, Adeno Associated Virus Vector, Animal Experiment, Animal Model, Article, Beta Actin, Blood Brain Barrier, Body Weight, Body Weight Gain, Brain Nerve Cell, Brain Ventricle, Cell Proliferation, Complementary DNA, Controlled Study, Cre Recombinase, Drug Efficacy, Female, Gene, Gene Replacement Therapy, Hamartin, HEK293 Cell Line, Hydrocephalus, Immunohistochemistry, Inverted Terminal Repeat, Long Term Care, Male, Motor Activity, Motor Performance, Mouse, Nonhuman, Priority Journal, Promoter Region, Protein Function, Protein Phosphorylation, Quantitative Analysis, Subventricular Zone, Survival Time, Tuberous Sclerosis, Tuberous Sclerosis Type 1, Vascularization, Viral Gene Delivery System},
pubstate = {published},
tppubtype = {article}
}

@article{Gallagher201531,
title = {Ankrd11 is a chromatin regulator involved in autism that is essential for neural development},
author = {D Gallagher and A Voronova and M A Zander and G I Cancino and A Bramall and M P Krause and C Abad and M Tekin and P M Neilsen and D F Callen and S W Scherer and G M Keller and D R Kaplan and K Walz and F D Miller},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84922343890&doi=10.1016%2fj.devcel.2014.11.031&partnerID=40&md5=ad7b8bd3ead790f092e1d8a276d4f25c},
doi = {10.1016/j.devcel.2014.11.031},
issn = {15345807},
year = {2015},
date = {2015-01-01},
journal = {Developmental Cell},
volume = {32},
number = {1},
pages = {31-42},
publisher = {Cell Press},
abstract = {Ankrd11 is a potential chromatin regulator implicated in neural development and autism spectrum disorder (ASD) with no known function in the brain. Here, we show that knockdown of Ankrd11 in developing murine or human cortical neural precursors caused decreased proliferation, reduced neurogenesis, andaberrant neuronal positioning. Similar cellular phenotypes and aberrant ASD-like behaviors were observed in Yoda mice carrying a point mutation inthe Ankrd11 HDAC-binding domain. Consistent with a role for Ankrd11 in histone acetylation, Ankrd11 was associated with chromatin and colocalized with HDAC3, and expression and histone acetylation of Ankrd11 target genes were altered in Yoda neural precursors. Moreover, the Ankrd11 knockdown-mediated decrease in precursor proliferation was rescued by inhibiting histone acetyltransferase activity or expressing HDAC3. Thus, Ankrd11 is a crucial chromatin regulator that controls histone acetylation and gene expression during neural development, thereby providing a likely explanation for its association with cognitive dysfunction and ASD. © 2015 Elsevier Inc.},
note = {cited By 52},
keywords = {Acetylation, Animal Behavior, Animal Cell, Animals, Ankrd11 Protein, Ankyrin, Ankyrin Repeat Domain Containing Protein 11, Article, Autism, Autism Spectrum Disorders, Behaviour, Biological Marker, Blotting, Brain Cell Culture, Cell Culture, Cell Differentiation, Cell Proliferation, Cells, Chemistry, Chromatin, Chromatin Immunoprecipitation, Cultured, DNA Binding Protein, DNA Microarray, DNA-Binding Proteins, Enzyme Activity, Female, Gene, Gene Expression Profiling, Gene Targeting, Genetics, Histone, Histone Acetylation, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Histone Deacetylases, Histones, Human, Human Cell, Immunoprecipitation, Messenger, Messenger RNA, Metabolism, Mice, Mouse, Murinae, Mus, Nerve Cell Differentiation, Nervous System Development, Neurogenesis, Nonhuman, Oligonucleotide Array Sequence Analysis, Pathology, Phenotype, Physiology, Point Mutation, Post-Translational, Priority Journal, Protein Expression, Protein Processing, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Reverse Transcription Polymerase Chain Reaction, RNA, Small Interfering, Small Interfering RNA, Unclassified Drug, Western, Western Blotting},
pubstate = {published},
tppubtype = {article}
}