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Articles by Elizabeth M. C
Cathepsin B abundance, activity and microglial localisation in Alzheimer’s disease-Down syndrome and early onset Alzheimer’s disease; the role of elevated cystatin B (pdf) | Paperity
Acta Neuropathologica Communications, Aug 2023 Cathepsin B is a cysteine protease that is implicated in multiple aspects of Alzheimer’s disease pathogenesis. The endogenous inhibitor of this enzyme, cystatin B (CSTB) is encoded on chromosome 21. Thus, individuals who have Down syndrome, a genetic condition caused by having an additional copy of chromosome 21, have an extra copy of an endogenous inhibitor of the enzyme.
Cathepsin B abundance, activity and microglial localisation in Alzheimer’s disease-Down syndrome and early onset Alzheimer’s disease; the role of elevated cystatin B | Acta Neuropathologica Communications | Full Text
See Tables 1, 2, 3. All experiments were undertaken in accordance with the Animals (Scientific Procedures) Act 1986 (United Kingdom), after local institutional ethical review by the Medical Research Council, University College London and results are reported in accordance with ARRIVE 2.0 guidelines. Mice were housed in individually ventilated cages (Tecniplast) with grade 5, autoclaved dust-free wood bedding, paper bedding and a translucent red “mouse house”.
Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes
To map the location of dosage-sensitive genes that cause the craniofacial dysmorphology of Dp1Tyb mice, we made use of a panel of seven mouse strains that have shorter genomic duplications contained within the Hsa21-orthologous region of Mmu16, thereby breaking up the 23 Mb, 145-gene region duplicated in Dp1Tyb mice into shorter segments (Fig. 1A) (Lana-Elola et al., 2016).
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A - Nature
Abstract Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia1,2,3, two related neurodegenerative diseases defined by mislocalization of the RNA-binding protein TDP-434,5. Here we show that TDP-43 depletion induces robust inclusion of a cryptic exon in UNC13A, resulting in nonsense-mediated decay and loss of UNC13A protein.
Author Correction: A human-specific modifier of cortical connectivity and circuit function - Nature
Correction to: Nature https://doi.org/10.1038/s41586-021-04039-4published online 27 October 2021 In the version of this article initially published, there was an error in ref. 23. The reference, rather than citing Park, J. IBRO Rep. 6 S550 (2019), should instead have cited Park, J. M. et al. Deep and superficial layers of the primary somatosensory cortex are critical for whisker-based texture discrimination in mice. Preprint at bioRxiv https://doi.org/10.1101/2020.08.12.245381 (2020).
A human-specific modifier of cortical connectivity and circuit function - Nature
Abstract The cognitive abilities that characterize humans are thought to emerge from unique features of the cortical circuit architecture of the human brain, which include increased cortico–cortical connectivity. However, the evolutionary origin of these changes in connectivity and how they affected cortical circuit function and behaviour are currently unknown.
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