Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Deborah K. Sokol"'
Autor:
Deborah K. Sokol, Debomoy K. Lahiri
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Recent studies promote new interest in the intersectionality between autism spectrum disorder (ASD) and Alzheimer’s Disease. We have reported high levels of Amyloid-β Precursor Protein (APP) and secreted APP-alpha (sAPPa) and low levels of amyloid
Externí odkaz:
https://doaj.org/article/260fd5a30e8141c595aec7a0e9d6ddb1
APPlications of amyloid-β precursor protein metabolites in macrocephaly and autism spectrum disorder
Autor:
Deborah K. Sokol, Debomoy K. Lahiri
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Metabolites of the Amyloid-β precursor protein (APP) proteolysis may underlie brain overgrowth in Autism Spectrum Disorder (ASD). We have found elevated APP metabolites (total APP, secreted (s) APPα, and α-secretase adamalysins in the plasma and b
Externí odkaz:
https://doaj.org/article/a0cf2b1c003f46d5abdd97b2a6f33831
Publikováno v:
Radiology Case Reports, Vol 16, Iss 6, Pp 1276-1279 (2021)
Pathogenic CACNA1A gene variants are associated with a spectrum of disorders including migraine with or without hemiplegia, ataxia, epilepsy, and developmental disability. We present a case of a pathogenic variant (c.4046G>A, p.R1349Q) in the CACNA1A
Externí odkaz:
https://doaj.org/article/974e4c9e3e704af2810e10fc50db3f15
Publikováno v:
Frontiers in Psychiatry, Vol 10 (2019)
The most replicated neuroanatomical finding in autism is the tendency toward brain overgrowth, especially in younger children. Research shows that both gray and white matter are enlarged. Proposed mechanisms underlying brain enlargement include abnor
Externí odkaz:
https://doaj.org/article/08922043e2bd4491a607171e76133d38
Publikováno v:
Biological Psychiatry. 92:e21-e23
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dfc51678a8a9b92ef161aba2064d123
https://doi.org/10.1016/j.biopsych.2021.10.025
https://doi.org/10.1016/j.biopsych.2021.10.025
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Fragile X mental retardation protein (FMRP) binds to and regulates the translation of amyloid-β protein precursor (App) mRNA, but the detailed mechanism remains to be determined. Differential methylation of App mRNA could underlie FMRP binding, mess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907fb0e66b763faff003e3db9ccb977f
http://link.springer.com/article/10.1038/s41598-020-66394-y
http://link.springer.com/article/10.1038/s41598-020-66394-y
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 7 (2013)
Autism is a neurodevelopmental disorder marked by social skills and communication deficits and interfering repetitive behavior. Intellectual disability often accompanies autism. In addition to behavioral deficits, autism is characterized by neuropath
Externí odkaz:
https://doaj.org/article/aadda64fd6c04323830fc4b3a1877036
Autor:
Cara J. Westmark, Ruizhi Wang, Debomoy K. Lahiri, Jack T. Rogers, Deborah K. Sokol, Bryan Maloney
Publikováno v:
Mol Psychiatry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4102510e85c5db79d3518ff0333bb0fa
https://europepmc.org/articles/PMC9487718/
https://europepmc.org/articles/PMC9487718/
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e20405 (2011)
Autism is a neurodevelopmental disorder characterized by deficits in verbal communication, social interactions, and the presence of repetitive, stereotyped and compulsive behaviors. Excessive early brain growth is found commonly in some patients and
Externí odkaz:
https://doaj.org/article/d7f5d3ec14b64052aad92d76a71074e0
Publikováno v:
Pediatric neurology. 80
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aecb733736174b263569088e6b7a702b
https://pubmed.ncbi.nlm.nih.gov/29429780
https://pubmed.ncbi.nlm.nih.gov/29429780