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Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.
Mol Neurodegener
May 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
A ~ 1 Mb inversion polymorphism exists within the 17q21.31 locus of the human genome as direct (H1) and inverted (H2) haplotype clades. This inversion region demonstrates high linkage disequilibrium, but the frequency of each haplotype differs across ancestries.
View Article and Find Full Text PDFNeuronal deletion of Gtf2i results in developmental microglial alterations in a mouse model related to Williams syndrome.
Glia
June 2024
The School of Psychological Sciences, Faculty of Social Sciences, Tel Aviv University, Tel Aviv, Israel.
Williams syndrome (WS) is a genetic neurodevelopmental disorder caused by a heterozygous microdeletion, characterized by hypersociability and unique neurocognitive abnormalities. Of the deleted genes, GTF2I has been linked to hypersociability in WS. We have recently shown that Gtf2i deletion from forebrain excitatory neurons, referred to as Gtf2i conditional knockout (cKO) mice leads to multi-faceted myelination deficits associated with the social behaviors affected in WS.
View Article and Find Full Text PDFNeuroplastin in Neuropsychiatric Diseases.
Genes (Basel)
September 2021
Neurogenetics Laboratory, Leibniz Institute for Neurobiology, Brenneckestr. 6, D-39118 Magdeburg, Germany.
Molecular mechanisms underlying neuropsychiatric and neurodegenerative diseases are insufficiently elucidated. A detailed understanding of these mechanisms may help to further improve medical intervention. Recently, intellectual abilities, creativity, and amnesia have been associated with neuroplastin, a cell recognition glycoprotein of the immunoglobulin superfamily that participates in synapse formation and function and calcium signaling.
View Article and Find Full Text PDFElectrophysiological Characterization of Regular and Burst Firing Pyramidal Neurons of the Dorsal Subiculum in an Angelman Syndrome Mouse Model.
Front Cell Neurosci
August 2021
Sagol Department of Neurobiology, The Integrated Brain and Behavior Research Center, University of Haifa, Haifa, Israel.
Article Synopsis
- Angelman syndrome (AS) is a serious neurogenetic disorder linked to severe developmental delays and behavioral issues, caused by mutations in a specific chromosome region.
- Research has identified increased levels of α1-Na/K-ATPase in AS mice, leading to impaired calcium dynamics in their hippocampal neurons, which may contribute to cognitive and behavioral deficits.
- There has been little investigation into the subicular neurons, which are crucial for information transfer in the brain and may offer insights into AS and its overlap with other neuropsychiatric disorders.
Separable neural mechanisms for the pleiotropic association of copy number variants with neuropsychiatric traits.
Transl Psychiatry
March 2020
Department of Neuroimaging, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany.
22q11.2, 15q13.3, and 1q21.
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