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| http://dx.doi.org/10.1016/j.celrep.2019.01.064 | DOI Listing |
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Targeted demethylation of cathepsin D via epigenome editing rescues pathology in Alzheimer's disease mouse model.
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Laboratory of Molecular Genetics, College of Pharmacy, Chungbuk National University, Cheongju, 28160, Republic of Korea.
Cathepsin D (Ctsd) has emerged as a promising therapeutic target for Alzheimer's disease (AD) due to its role in degrading intracellular amyloid beta (Aβ). Enhancing Ctsd activity could reduce Aβ42 accumulation and restore the Aβ42/40 ratio, offering a potential AD treatment strategy. This study explored Ctsd demethylation in AD mouse models using dCas9-Tet1-mediated epigenome editing.
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J Inherit Metab Dis
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Department of Biochemistry and Chemistry and La Trobe Institute for Molecular Science, La Trobe University, Bundoora, Victoria, Australia.
Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted diets show poor efficacy, whereas the development of new treatments is hindered by the low prevalence of the disorder and a lack of model systems for treatment testing.
View Article and Find Full Text PDFGene correction of Wiskott-Aldrich-syndrome iPS cells rescues proplatelet defects and improves platelet size.
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Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder caused by loss-of-function mutations in the WAS gene, responsible for encoding WASP, a key regulator of actin cytoskeleton in all hematopoietic cells except red blood cells. The mechanism underlying microthrombocytopenia, a distinctive feature of WAS and a major contributor to mortality, remains not fully elucidated. In this study, using different gene editing strategies, we corrected mutations in patient-derived WAS-induced pluripotent stem cell lines, generating isogeneic WAS iPSC lines.
View Article and Find Full Text PDFIdentification of Pappa and Sall3 as Gli3 direct target genes acting downstream of cilia signaling in corticogenesis.
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The cerebral cortex is critical for advanced cognitive functions and relies on a vast network of neurons to carry out its highly intricate neural tasks. Generating cortical neurons in accurate numbers hinges on cell signaling orchestrated by primary cilia to coordinate the proliferation and differentiation of cortical stem cells. While recent research has shed light on multiple ciliary roles in corticogenesis, specific mechanisms downstream of cilia signaling remain largely unexplored.
View Article and Find Full Text PDFLoss of function in does not enhance phenotypes of mutants.
MicroPubl Biol
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University of California, San Diego, La Jolla, California, United States.
The E3 ubiquitin ligase RPM-1 consists of 3,766 amino acids, with a RING finger domain at the C-terminus that functions to target the DLK-1 kinase for degradation for synapse development and axon termination. for aka F07B7.12 resides 35 kb away from on chromosome V, and is a near-perfect 12 kb duplication of including the entire promoter region and coding sequences.
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