Search Results - "Rozales, Kinneret"
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Cellular proteostasis decline in human senescence
Published in Proceedings of the National Academy of Sciences - PNAS (15-12-2020)“…Proteostasis collapse, the diminished ability to maintain protein homeostasis, has been established as a hallmark of nematode aging. However, whether…”
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Differential roles for DNAJ isoforms in HTT-polyQ and FUS aggregation modulation revealed by chaperone screens
Published in Nature communications (26-01-2022)“…Protein aggregation is a hallmark of neurodegeneration. Here, we find that Huntington’s disease-related HTT-polyQ aggregation induces a cellular proteotoxic…”
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Housing of A350V IQSEC2 pups at 37 °C ambient temperature prevents seizures and permits the development of social vocalizations in adulthood
Published in International journal of hyperthermia (01-01-2021)“…Mutations in the human IQSEC2 gene are associated with drug-resistant epilepsy and severe behavioral dysfunction. We have focused on understanding one human…”
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An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors
Published in Frontiers in molecular neuroscience (20-02-2019)“…We have recently described an A350V mutation in IQSEC2 associated with intellectual disability, autism and epilepsy. We sought to understand the molecular…”
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Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy
Published in Epilepsy research (01-05-2022)“…IQSEC2 is an X-linked gene localized to the post synaptic density encoding a GTP exchange factor that regulates NMDA mediated changes in synaptic function…”
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Grb2 regulates the proliferation of hematopoietic stem and progenitors cells
Published in Biochimica et biophysica acta. Molecular cell research (01-12-2017)“…Although Hematopoietic Stem and Progenitor Cell (HSPC) proliferation, survival and expansion have been shown to be supported by the cooperative action of…”
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