Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Benjamin D. Philpot"'
Autor:
Vidya Saravanapandian, Melika Madani, India Nichols, Scott Vincent, Mary Dover, Dante Dikeman, Benjamin D. Philpot, Toru Takumi, Christopher S. Colwell, Shafali Jeste, Ketema N. Paul, Peyman Golshani
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-16 (2024)
Abstract Background Sleep disturbances are a prevalent and complex comorbidity in neurodevelopmental disorders (NDDs). Dup15q syndrome (duplications of 15q11.2-13.1) is a genetic disorder highly penetrant for NDDs such as autism and intellectual disa
Externí odkaz:
https://doaj.org/article/7a9ff40a16224580afd1c0543e8114e0
Autor:
Hanna Vihma, Kelin Li, Anna Welton-Arndt, Audrey L. Smith, Kiran R. Bettadapur, Rachel B. Gilmore, Eric Gao, Justin L. Cotney, Hsueh-Cheng Huang, Jon L. Collins, Stormy J. Chamberlain, Hyeong-Min Lee, Jeffrey Aubé, Benjamin D. Philpot
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Deletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigenetically silenced by a long non-coding antisense (UBE3A-ATS) in neurons, this nearly eliminates UBE3A protein in the brain. Reactivating pat
Externí odkaz:
https://doaj.org/article/72e7df6e4aea4466a15644b3c09e8c85
Autor:
Alain C. Burette, Hanna Vihma, Audrey L. Smith, Siddhi S. Ozarkar, Jeff Bennett, David G. Amaral, Benjamin D. Philpot
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
Transcription factor 4 (TCF4) has been implicated in a range of neuropsychiatric disorders, including major depressive disorder, bipolar disorder, and schizophrenia. Mutations or deletions in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare neurodevel
Externí odkaz:
https://doaj.org/article/bf3bae52cadb4d0889b2055288a4d21e
Autor:
Chavely Gonzalez Ramirez, Sarah G. Salvador, Ridthi Kartik Rekha Patel, Sarah Clark, Noah W. Miller, Lucas M. James, Nicholas W. Ringelberg, Jeremy M. Simon, Jeffrey Bennett, David G. Amaral, Alain C. Burette, Benjamin D. Philpot
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
Angelman syndrome (AS) is a neurogenetic disorder caused by mutations or deletions in the maternally-inherited UBE3A allele, leading to a loss of UBE3A protein expression in neurons. The paternally-inherited UBE3A allele is epigenetically silenced in
Externí odkaz:
https://doaj.org/article/33877a6fbffd43a480e77efec52fb40f
Autor:
A. Mattijs Punt, Matthew C. Judson, Michael S. Sidorov, Brittany N. Williams, Naomi S. Johnson, Sabine Belder, Dion den Hertog, Courtney R. Davis, Maximillian S. Feygin, Patrick F. Lang, Mehrnoush Aghadavoud Jolfaei, Patrick J. Curran, Wilfred F.J. van IJcken, Ype Elgersma, Benjamin D. Philpot
Publikováno v:
JCI Insight, Vol 7, Iss 18 (2022)
Chromosome 15q11.2–q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the UBE3A gen
Externí odkaz:
https://doaj.org/article/7a3cbddaed7a4251860363085a8801d7
Autor:
Hyeong-Min Lee, M. Bram Kuijer, Nerea Ruiz Blanes, Ellen P. Clark, Megumi Aita, Lorena Galiano Arjona, Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Sanchita Bhatnagar, Benjamin D. Philpot, Andrea Cerase
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological
Externí odkaz:
https://doaj.org/article/f1d6c74a535f4002b4d27d4a54f485ae
Autor:
Leah B. Townsend, Kelly A. Jones, Christopher R. Dorsett, Benjamin D. Philpot, Spencer L. Smith
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-14 (2020)
Abstract Background Sensory processing deficits are common in individuals with neurodevelopmental disorders. One hypothesis is that deficits may be more detectable in downstream, “higher” sensory areas. A mouse model of Angelman syndrome (AS), wh
Externí odkaz:
https://doaj.org/article/c228e2076f6a4eaca4362e477f72d151
Autor:
Matthew C. Judson, Charles Shyng, Jeremy M. Simon, Courtney R. Davis, A. Mattijs Punt, Mirabel T. Salmon, Noah W. Miller, Kimberly D. Ritola, Ype Elgersma, David G. Amaral, Steven J. Gray, Benjamin D. Philpot
Publikováno v:
JCI Insight, Vol 6, Iss 20 (2021)
Loss of the maternal UBE3A allele causes Angelman syndrome (AS), a debilitating neurodevelopmental disorder. Here, we devised an AS treatment strategy based on reinstating dual-isoform expression of human UBE3A (hUBE3A) in the developing brain. Kozak
Externí odkaz:
https://doaj.org/article/888b4e1fb7f544c69593f51d6a0911fc
Autor:
Monica Sonzogni, Johanna Hakonen, Mireia Bernabé Kleijn, Sara Silva-Santos, Matthew C. Judson, Benjamin D. Philpot, Geeske M. van Woerden, Ype Elgersma
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-9 (2019)
Abstract Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a
Externí odkaz:
https://doaj.org/article/9f5d993543454a7da9f4c33c367eb2a4
Publikováno v:
Frontiers in Neuroanatomy, Vol 14 (2020)
Transcription factor 4 is a class I basic helix-loop-helix transcription factor regulating gene expression. Altered TCF4 gene expression has been linked to non-syndromic intellectual disability, schizophrenia, and a severe neurodevelopmental disorder
Externí odkaz:
https://doaj.org/article/efd915f2f5544e32b3d6a6d19414aa52