Search Results - "Granata, Alessandra"

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    Functional genomics in stroke: current and future applications of iPSCs and gene editing to dissect the function of risk variants by Granata, Alessandra

    Published in BMC cardiovascular disorders (29-04-2023)
    “…Stroke is an important disease with unmet clinical need. To uncover novel paths for treatment, it is of critical importance to develop relevant laboratory…”
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    Journal Article
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    Embryonic origins of human vascular smooth muscle cells: implications for in vitro modeling and clinical application by Sinha, Sanjay, Iyer, Dharini, Granata, Alessandra

    “…Vascular smooth muscle cells (SMCs) arise from multiple origins during development, raising the possibility that differences in embryological origins between…”
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    Cerebrovascular Disorders by Granata, Alessandra, Harshfield, Eric L, Moxon, Joseph V

    Published in BMC cardiovascular disorders (28-04-2023)
    “…Cerebrovascular disorders pose a global health concern. Advances in basic and clinical research, including induced pluripotent stem cell models and multi-omic…”
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    The Dystonia-associated Protein TorsinA Modulates Synaptic Vesicle Recycling by Granata, Alessandra, Watson, Rose, Collinson, Lucy M., Schiavo, Giampietro, Warner, Thomas T.

    Published in The Journal of biological chemistry (21-03-2008)
    “…The loss of a glutamic acid residue in the AAA-ATPase (ATPases associated with diverse cellular activities) torsinA is responsible for most cases of early…”
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    The Histone Deacetylase 9 Stroke-Risk Variant Promotes Apoptosis and Inflammation in a Human iPSC-Derived Smooth Muscle Cells Model by Granata, Alessandra, Kasioulis, Ioannis, Serrano, Felipe, Cooper, James D, Traylor, Matthew, Sinha, Sanjay, Markus, Hugh S

    Published in Frontiers in cardiovascular medicine (30-03-2022)
    “…A common variant in the Histone Deacetylase 9 ( ) gene is the strongest genetic risk for large-vessel stroke, and HDAC9 offers a novel target for therapeutic…”
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    An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death by Granata, Alessandra, Serrano, Felipe, Bernard, William George, McNamara, Madeline, Low, Lucinda, Sastry, Priya, Sinha, Sanjay

    Published in Nature genetics (01-01-2017)
    “…Sanjay Sinha and colleagues use a vascular model derived from human induced pluripotent stem cells from patients with Marfan syndrome with fibrillin-1…”
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    Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome by Granata, Alessandra, Savery, Dawn, Hazan, Jamile, Cheung, Billy M.F., Lumsden, Andrew, Quaderi, Nandita A.

    Published in Developmental biology (15-01-2005)
    “…Opitz G/BBB syndrome (OS) is a congenital defect characterized by hypertelorism and hypospadias, but additional midline malformations are also common in OS…”
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    A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration by Serrano, Felipe, Bernard, William George, Granata, Alessandra, Iyer, Dharini, Steventon, Ben, Kim, Matthew, Vallier, Ludovic, Gambardella, Laure, Sinha, Sanjay

    Published in Stem cells and development (15-01-2019)
    “…The neural crest (NC) is a transient multipotent cell population present during embryonic development. The NC can give rise to multiple cell types and is…”
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    A phenotypic screen of Marfan syndrome iPSC-derived vascular smooth muscle cells uncovers GSK3β as a new target by Davaapil, Hongorzul, McNamara, Madeline, Granata, Alessandra, Macrae, Robyn G.C., Hirano, Mei, Fitzek, Martina, Aragon-Martin, J.A., Child, Anne, Smith, David M., Sinha, Sanjay

    Published in Stem cell reports (14-02-2023)
    “…Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutations in FBN1. Patients with MFS notably suffer from aortic aneurysm and dissection…”
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    CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process by Granata, Alessandra, Koo, Seong Joo, Haucke, Volker, Schiavo, Giampietro, Warner, Thomas T

    Published in The EMBO journal (05-01-2011)
    “…DYT1 dystonia is caused by an autosomal dominant mutation that leads to a glutamic acid deletion in torsinA (TA), a member of the AAA+ ATPase superfamily. In…”
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    Temporal and embryonic lineage-dependent regulation of human vascular SMC development by NOTCH3 by Granata, Alessandra, Bernard, William G, Zhao, Ning, Mccafferty, John, Lilly, Brenda, Sinha, Sanjay

    Published in Stem cells and development (01-04-2015)
    “…Vascular smooth muscle cells (SMCs), which arise from multiple embryonic progenitors, have unique lineage-specific properties and this diversity may contribute…”
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    TorsinA and dystonia: from nuclear envelope to synapse by Granata, Alessandra, Schiavo, Giampietro, Warner, Thomas T

    Published in Journal of neurochemistry (01-06-2009)
    “…A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia, which is characterised by…”
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