Search Results - "BRIAULT, Sylvain"
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1
STING agonist diABZI induces PANoptosis and DNA mediated acute respiratory distress syndrome (ARDS)
Published in Cell death & disease (25-03-2022)“…Stimulator of interferon genes (STING) contributes to immune responses against tumors and may control viral infection including SARS-CoV-2 infection. However,…”
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2
Astroglial Kir4.1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in Fragile X syndrome mouse model
Published in Nature communications (27-04-2024)“…Fragile X syndrome (FXS) is an inherited form of intellectual disability caused by the loss of the mRNA-binding fragile X mental retardation protein (FMRP)…”
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3
Hippocampal interleukin-33 mediates neuroinflammation-induced cognitive impairments
Published in Journal of neuroinflammation (11-09-2020)“…Abstract Background Interleukin (IL)-33 is expressed in a healthy brain and plays a pivotal role in several neuropathologies, as protective or contributing to…”
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4
Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report
Published in Journal of medical case reports (05-05-2022)“…Mutations in the genes encoding the large-conductance calcium-activated potassium channel, especially KCNMA1 encoding its α-subunit, have been linked to…”
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5
Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome
Published in Journal of neurodevelopmental disorders (01-12-2021)“…Abstract Background Disturbances in sensory function are an important clinical feature of neurodevelopmental disorders such as fragile X syndrome (FXS)…”
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6
Visual sensorial impairments in neurodevelopmental disorders: evidence for a retinal phenotype in Fragile X Syndrome
Published in PloS one (25-08-2014)“…Visual sensory impairments are common in Mental Deficiency (MD) and Autism Spectrum Disorder (ASD). These defects are linked to cerebral dysfunction in the…”
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7
Dietary Supplement Enriched in Antioxidants and Omega-3 Promotes Glutamine Synthesis in Müller Cells: A Key Process against Oxidative Stress in Retina
Published in Nutrients (01-09-2021)“…To prevent ocular pathologies, new generation of dietary supplements have been commercially available. They consist of nutritional supplement mixing components…”
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8
Visual Behavior Impairments as an Aberrant Sensory Processing in the Mouse Model of Fragile X Syndrome
Published in Frontiers in behavioral neuroscience (02-10-2019)“…Fragile X Syndrome (FXS), the most common inherited form of human intellectual disability (ID) associated to autistic-like behaviors, is characterized by…”
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9
Case Report: Co-infection with SARS-CoV-2 and influenza H1N1 in a patient with acute respiratory distress syndrome and a pulmonary sarcoidosis [version 2; peer review: 1 approved, 1 approved with reservations]
Published in F1000 research (2022)“…Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and has been a global public health…”
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10
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders
Published in PloS one (06-03-2014)“…Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more…”
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11
Early Retinal Defects in Fmr1 -/y Mice: Toward a Critical Role of Visual Dys-Sensitivity in the Fragile X Syndrome Phenotype?
Published in Frontiers in cellular neuroscience (06-04-2018)“…Fragile X Syndrome (FXS) is caused by a deficiency in Fragile X Mental Retardation Protein (FMRP) leading to global sensorial abnormalities, among which visual…”
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12
Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation
Published in Science (American Association for the Advancement of Science) (29-11-2002)“…A 4-base pair deletion in the neuronal serine protease neurotrypsin gene was associated with autosomal recessive nonsyndromic mental retardation (MR). In situ…”
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13
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability
Published in BMC genetics (20-01-2011)“…Intellectual disability (ID) is frequently associated with sleep disorders. Treatment with melatonin demonstrated efficacy, suggesting that, at least in a…”
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14
Lack of FMRP in the retina: Evidence of a retinal specific transcriptomic profile
Published in Experimental eye research (01-09-2024)“…Fragile X Syndrome (FXS), the most common inherited form of human intellectual disability, is a monogenic neurodevelopmental disorder caused by a…”
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15
Dietary supplement enriched in antioxidants and omega-3 promotes retinal glutamine synthesis
Published in Experimental eye research (01-08-2024)“…To prevent ocular pathologies, new generation of dietary supplements have been commercially available. They consist of nutritional supplement mixing components…”
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16
MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation
Published in American journal of medical genetics. Part A (01-12-2003)“…Non‐syndromic X‐linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12…”
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17
FMRP-related retinal phenotypes: Evidence of glutamate-glutamine metabolic cycle impairment
Published in Experimental eye research (01-11-2022)“…FMRP, the fragile X mental retardation protein coded by the FMR1 gene, is an RNA-binding protein that assists transport, stabilization and translational…”
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18
Hippocampal interleukin-33 mediates neuroinflammation-induced cognitive impairments
Published in Journal of neuroinflammation (01-12-2020)“…Abstract Background Interleukin (IL)-33 is expressed in a healthy brain and plays a pivotal role in several neuropathologies, as protective or contributing to…”
Get full text
Journal Article -
19
STING agonist diABZI induces PANoptosis and DNA mediated acute respiratory distress syndrome (ARDS)
Published in Cell death & disease (25-03-2022)“…Stimulator of interferon genes (STING) contributes to immune responses against tumors and may control viral infection including SARS-CoV-2 infection. However,…”
Get full text
Journal Article -
20
Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule
Published in Orphanet journal of rare diseases (01-08-2014)“…Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and is also associated with autism spectrum disorders. Previous studies…”
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