Search Results - "Medici, Giorgio"
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1
Inhibition of microglia overactivation restores neuronal survival in a mouse model of CDKL5 deficiency disorder
Published in Journal of neuroinflammation (08-07-2021)“…CDKL5 deficiency disorder (CDD), a severe neurodevelopmental disorder characterized by early onset epilepsy, intellectual disability, and autistic features, is…”
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2
Luteolin Treatment Ameliorates Brain Development and Behavioral Performance in a Mouse Model of CDKL5 Deficiency Disorder
Published in International journal of molecular sciences (01-08-2022)“…CDKL5 deficiency disorder (CDD), a rare and severe neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene, is characterized by early-onset…”
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3
CDKL5 deficiency predisposes neurons to cell death through the deregulation of SMAD3 signaling
Published in Brain pathology (Zurich, Switzerland) (01-09-2019)“…CDKL5 deficiency disorder (CDD) is a rare encephalopathy characterized by early onset epilepsy and severe intellectual disability. CDD is caused by mutations…”
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4
Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder
Published in Neurobiology of disease (15-06-2023)“…Mutations in the CDKL5 gene are the cause of CDKL5 deficiency disorder (CDD), a rare and severe neurodevelopmental condition characterized by early-onset…”
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5
Increased DNA Damage and Apoptosis in CDKL5-Deficient Neurons
Published in Molecular neurobiology (01-05-2020)“…Mutations in the CDKL5 gene, which encodes a serine/threonine kinase, causes a rare encephalopathy, characterized by early-onset epilepsy and severe…”
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6
A GABAB receptor antagonist rescues functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder
Published in Neurobiology of disease (01-06-2021)“…CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy characterized by early-onset epilepsy and…”
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7
Treatment with a GSK-3β/HDAC Dual Inhibitor Restores Neuronal Survival and Maturation in an In Vitro and In Vivo Model of CDKL5 Deficiency Disorder
Published in International journal of molecular sciences (31-05-2021)“…Mutations in the X-linked cyclin-dependent kinase-like 5 ( ) gene cause a rare neurodevelopmental disorder characterized by early-onset seizures and severe…”
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8
Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist
Published in Frontiers in cellular neuroscience (30-04-2019)“…Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodevelopmental encephalopathy caused by mutations in the gene and…”
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9
DNA structure directs positioning of the mitochondrial genome packaging protein Abf2p
Published in Nucleic acids research (25-01-2017)“…The mitochondrial genome (mtDNA) is assembled into nucleo-protein structures termed nucleoids and maintained differently compared to nuclear DNA, the involved…”
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10
Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder
Published in International journal of molecular sciences (01-03-2023)“…CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder (CDD) is a severe neurodevelopmental disease that mostly affects girls, who are heterozygous for…”
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11
Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder
Published in Neural plasticity (01-01-2018)“…CDKL5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 (cyclin-dependent kinase-like five) gene. CDKL5 disorder…”
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12
Correction to: Increased DNA Damage and Apoptosis in CDKL5-Deficient Neurons
Published in Molecular neurobiology (01-05-2020)“…The original version of this article unfortunately contained error in Fig. 5a to where a panel is missing…”
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13
Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder
Published in Biomolecules (Basel, Switzerland) (01-09-2023)“…Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene. CDD is…”
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14
Characterisation of sleep apneas and respiratory circuitry in mice lacking CDKL5
Published in Journal of sleep research (24-07-2024)“…CDKL5 deficiency disorder is a rare genetic disease caused by mutations in the CDKL5 gene. Central apneas during wakefulness have been reported in patients…”
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15
CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder
Published in Human molecular genetics (01-05-2018)“…Abstract Cyclin-dependent kinase like-5 (CDKL5) disorder is a rare neurodevelopmental disease caused by mutations in the CDKL5 gene. The consequent…”
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16
Pharmacotherapy with sertraline rescues brain development and behavior in a mouse model of CDKL5 deficiency disorder
Published in Neuropharmacology (01-05-2020)“…Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause a severe neurodevelopmental disorder, CDKL5 deficiency disorder (CDD). CDKL5 is…”
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17
Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder
Published in Neurotherapeutics (01-10-2022)“…Although delivery of a wild-type copy of the mutated gene to cells represents the most effective approach for a monogenic disease, proof-of-concept studies…”
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18
Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mouse model of CDKL5 deficiency disorder
Published in CNS neuroscience & therapeutics (01-11-2022)“…Introduction CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition, primarily affecting girls for which no cure currently exists. Neuronal…”
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Age-Related Cognitive and Motor Decline in a Mouse Model of CDKL5 Deficiency Disorder is Associated with Increased Neuronal Senescence and Death
Published in Aging and disease (01-06-2021)“…CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disease caused by mutations in the X-linked gene. Children affected by CDD display a clinical…”
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A GABA B receptor antagonist rescues functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder
Published in Neurobiology of disease (01-06-2021)“…CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy characterized by early-onset epilepsy and…”
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