Giulia S. Porcari

Stratification of Phenotypes in Childhood-Onset COL4A1/COL4A2 –Related Disorders Based on Age of Presentation

Giulia S. Porcari, Rudmila Rashid, Caitlyn Mulvihill, Lauren A. Beslow et autres

Background and Objectives: are associated with a multisystem disorder characterized by prominent neurologic involvement that includes intracranial hemorrhages, white matter injury, neurodevelopmental impairment, and epilepsy. The phenotypic spectrum, however, is broad, and disease subgroups have not been robustly identified. The objective of …

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Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

Brianna Disanza, Giulia S. Porcari, Lívia Sertori Finoti, Leonardo Ramos-Rodriguez et autres

Branched-chain amino acid transaminase-1 (BCAT1) initiates the catabolism of branched-chain amino acids (BCAAs), which are essential for neurologic function. However, the role of BCAT1 in neurodevelopment is largely unknown. Here, we identify compound heterozygous BCAT1 variants in a patient with a severe …

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The CBP KIX domain regulates long-term memory and circadian activity

Snehajyoti Chatterjee, Christopher C. Angelakos, Ethan Bahl, Joshua D. Hawk et autres

Abstract Background CREB-dependent transcription necessary for long-term memory is driven by interactions with CREB-binding protein (CBP), a multi-domain protein that binds numerous transcription factors potentially affecting expression of thousands of genes. Identifying specific domain functions for multi-domain proteins is essential to understand …

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The CBP KIX domain regulates long-term memory and circadian activity

Snehajyoti Chatterjee, Christopher C. Angelakos, Ethan Bahl, Joshua D. Hawk et autres

Abstract CREB-dependent transcription necessary for long-term memory is driven by interactions with CREB-binding protein (CBP), a multi-domain protein that binds numerous transcription factors. Identifying specific domain functions for multi-action proteins is essential to understand processes necessary for healthy living including cognitive function …

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Transcriptional corepressor SIN3A regulates hippocampal synaptic plasticity via Homer1/mGluR5 signaling

Morgan S. Bridi, Hannah Schoch, Cédrick Florian, Shane G. Poplawski et autres

Long-term memory depends on the control of activity-dependent neuronal gene expression, which is regulated by epigenetic modifications. The epigenetic modification of histones is orchestrated by the opposing activities of 2 classes of regulatory complexes: permissive coactivators and silencing corepressors. Much work has …

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Additional file 2 of The CBP KIX domain regulates long-term memory and circadian activity

Snehajyoti Chatterjee, Christopher C. Angelakos, Ethan Bahl, Joshua D. Hawk et autres

Additional file 2 : Table S1. List of Genes Differentially Expressed in CBPKIX/KIX mutants compared to wild-type littermates after spatial learning. Table S2. List of the upstream regulators of the DEGs in CBPKIX/KIX mutants. Table S3. List of Genes Differentially Expressed in …

Outcome Trajectories after Primary Perinatal Hemorrhagic Stroke

Giulia S. Porcari, Lori C. Jordan, Rebecca Ichord, Daniel J. Licht et autres

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Neurologic Outcome Predictors in Pediatric Intracerebral Hemorrhage

Giulia S. Porcari, Lauren A. Beslow, Rebecca Ichord, Daniel J. Licht et autres

Background and Purpose— Intracerebral hemorrhage is a considerable source of morbidity and mortality. This 3-center study describes outcomes of pediatric intracerebral hemorrhage and identifies 2-year neurological outcome predictors. Methods— Children 29 days to 18 years of age presenting with intracerebral hemorrhage from …

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Efficacy of artisanal preparations of cannabidiol for the treatment of epilepsy: Practical experiences in a tertiary medical center

Giulia S. Porcari, Cary Fu, Emily Doll, Emma G. Carter et autres

Medically refractory epilepsy continues to be a challenge worldwide, and despite an increasing number of medical therapies, approximately 1 in 3 patients continues to have seizures. Cannabidiol (CBD), one of many constituents of the Cannabis sativa or marijuana plant, has received renewed …

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Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism

John N. Koberstein, Shane G. Poplawski, Mathieu E. Wimmer, Giulia S. Porcari et autres

promoter 6) revealed that the SNP rs6010065 was associated with ASD. Our data support the idea that learning recapitulates development at the epigenetic level and demonstrate that behaviorally induced epigenetic changes in mice can highlight regulatory regions relevant to brain disorders in …

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Contextual fear conditioning induces differential alternative splicing

Shane G. Poplawski, Lucı́a Peixoto, Giulia S. Porcari, Mathieu E. Wimmer et autres

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