Search Results - "Levy, Nina S"
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Molecular Insights into IQSEC2 Disease
Published in International journal of molecular sciences (01-03-2023)“…Recent insights into IQSEC2 disease are summarized in this review as follows: (1) Exome sequencing of IQSEC2 patient DNA has led to the identification of…”
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Vitamin E in the prevention of cardiovascular disease: the importance of proper patient selection
Published in Journal of lipid research (01-09-2013)“…Vitamin E is a naturally occurring fat-soluble antioxidant which has been proposed as a treatment for both primary and secondary protection against…”
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Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction
Published in International journal of molecular sciences (15-02-2023)“…Purposeful induction of fever for healing, including the treatment of epilepsy, was used over 2000 years ago by Hippocrates. More recently, fever has been…”
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IQSEC2-Associated Intellectual Disability and Autism
Published in International journal of molecular sciences (21-06-2019)“…Mutations in cause intellectual disability (ID), which is often accompanied by seizures and autism. A number of studies have shown that IQSEC2 is an abundant…”
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Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior
Published in Translational psychiatry (22-03-2021)“…IQSEC2 is an X-linked gene that is associated with autism spectrum disorder (ASD), intellectual disability, and epilepsy. IQSEC2 is a postsynaptic density…”
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Conformational analysis of the IQSEC2 protein by statistical thermodynamics
Published in Current research in structural biology (01-01-2024)“…Mutations in the IQSEC2 gene result in severe intellectual disability, epilepsy and autism. The primary function of IQSEC2 is to serve as a guanine exchange…”
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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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Haptoglobin genotype modulates the balance of Th1/Th2 cytokines produced by macrophages exposed to free hemoglobin
Published in Atherosclerosis (01-03-2007)“…Abstract The haptoglobin genotype has been demonstrated to be an independent risk factor for CVD in multiple epidemiological studies. The primary function of…”
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Haptoglobin Genotype Is a Determinant of Iron, Lipid Peroxidation, and Macrophage Accumulation in the Atherosclerotic Plaque
Published in Arteriosclerosis, thrombosis, and vascular biology (01-01-2007)“…OBJECTIVE—Intraplaque hemorrhage increases the risk of plaque rupture and thrombosis. The release of hemoglobin (Hb) from extravasated erythrocytes at the site…”
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Reduction in seizure burden in a child with a A350V IQSEC2 mutation using heat therapy with a Jacuzzi
Published in Clinical case reports (01-09-2021)“…A child with a A350V IQSEC2 missense mutation resulting in drug‐resistant epilepsy stops having seizures when he has a fever. We demonstrate that raising the…”
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Haptoglobin Genotype Is a Determinant of Hemoglobin Adducts and Vitamin E Content in HDL
Published in Journal of diabetes research (01-01-2018)“…Haptoglobin (Hp) is an abundant hemoglobin- (Hb-) binding serum protein and a constituent of the HDL proteome. In man, there exists a common polymorphism at…”
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Genetically Determined Heterogeneity in Hemoglobin Scavenging and Susceptibility to Diabetic Cardiovascular Disease
Published in Circulation research (13-06-2003)“…ABSTRACT—A major function of haptoglobin (Hp) is to bind hemoglobin (Hb) to form a stable Hp-Hb complex and thereby prevent Hb-induced oxidative tissue damage…”
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Structure-function analysis of the antioxidant properties of haptoglobin
Published in Blood (15-12-2001)“…Haptoglobin serves as an antioxidant by virtue of its ability to prevent hemoglobin-driven oxidative tissue damage. It was recently demonstrated that an…”
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Haptoglobin Polymorphism Predicts 30-Day Mortality and Heart Failure in Patients With Diabetes and Acute Myocardial Infarction
Published in Diabetes (New York, N.Y.) (01-09-2005)“…Haptoglobin Polymorphism Predicts 30-Day Mortality and Heart Failure in Patients With Diabetes and Acute Myocardial Infarction Mahmoud Suleiman 1 , Doron…”
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Haptoglobin Genotype as a Determinant of Benefit or Harm From Niacin for Participants With Diabetes
Published in Journal of the American College of Cardiology (31-05-2016)“…[...]one would predict that raising HDL levels in patients with Hp 2-2 DM may not have a favorable effect on HDL function. In a subset of AIM-HIGH participants…”
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Haptoglobin Genotype Is a Major Determinant of the Amount of Iron in the Human Atherosclerotic Plaque
Published in Journal of the American College of Cardiology (23-09-2008)“…Haptoglobin Genotype Is a Major Determinant of the Amount of Iron in the Human Atherosclerotic Plaque Pedro R. Moreno, K. Raman Purushothaman, Meera…”
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Haptoglobin Genotype Determines Myocardial Infarct Size in Diabetic Mice
Published in Journal of the American College of Cardiology (02-01-2007)“…Haptoglobin Genotype Determines Myocardial Infarct Size in Diabetic Mice Shany Blum, Roy Asaf, Julia Guetta, Rachel Miller-Lotan, Rabea Asleh, Ran Kremer, Nina…”
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IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission
Published in Molecular psychiatry (01-12-2021)“…Mutations in the IQSEC2 gene are associated with drug-resistant, multifocal infantile and childhood epilepsy; autism; and severe intellectual disability (ID)…”
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Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2
Published in Journal of biomolecular structure & dynamics (11-02-2024)“…IQSEC2 gene mutations are associated with epilepsy, autism, and intellectual disability. The primary function IQSEC2, mediated via its Sec 7 domain, is to act…”
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