122 research outputs found

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

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    AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission

    6,8-Dibromoquinoline

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    The title molecule, C9H5Br2N, is almost planar, with an r.m.s. deviation of 0.027 Å. The dihedral angle between the aromatic rings is 1.5 (3)°. In the crystal, π–π stacking interactions are present between the pyridine and benzene rings of adjacent molecules [centroid–centroid distances = 3.634 (4) Å], and short Br...Br contacts [3.4443 (13) Å] occur

    (E)-1-[1-(4-Chlorophenyl)ethylidene]thiosemicarbazide

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    In the crystal structure of the title compound, C9H10ClN3S, the molecules form chains parallel to [001] through N—H...S hydrogen bonds. In addition, weak intermolecular N—H...Cl hydrogen bonds connect the chains, forming a two-dimensional network parallel to (001)

    4-(Diphenylamino)benzaldehyde 4-phenylthiosemicarbazone

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    The title molecule, C26H22N4S, is composed of three main parts, viz. a triphenylamine group is connected to a phenyl ring by a thiosemicarbazone moiety. The C= N double bond has an E conformation. The crystal packing is dominated by strong hydrogen bonds through the thiosemicarbazone moiety, with pairs of N—H...S hydrogen bonds linking the molecules to form inversion dimers with an R22(8) ring motif. An intramolecular N—H...N hydrogen bond is also present, generating an S(5) ring motif. Although the structure contains four phenyl rings, π–π stacking interactions are not formed between them, probably due to the conformation adopted by the triphenylamine group. However, a weak π–π stacking interaction is observed between the phenyl ring and the delocalized thiosemicarbazone moiety

    1,2-Diphenyl-2-(m-tolylamino)ethanoneDedicated to the memory of Professor José Manuel Concellón.

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    The title compound, C21H19NO, belongs to the family of α-aminoketones. The structure contains three benzene rings, two of which [the phenyl ring in the 1-position (B) and the methylaniline ring (A)] are nearly coplanar [dihedral angle = 5.4 (1)°], whereas the phenyl ring in the 2-position (C) is nearly normal to them [dihedral angles = 81.8 (1) and 87.0 (1)° for A/C and B/C, respectively]. The conformation of the N—H bond is syn to the C=O bond, favouring the formation of a centrosymmetric dimer of molecules in the crystal structure. The molecular packing is consolidated by this N—H...O hydrogen-bonding network

    Nematodes of me order Dorylaimida from Andalucia Oriental, Spain. The family Tylencholaimellidae ]airajpuri,

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    Summary -This paper deals with six species of nematodes belonging to the family Tylencholaimellidae ]aira;puri, 1964 which have been collecred from nature areas from Southeastern Spain

    2,3-Dihydro-1H-cyclopenta[b]naphthalen-1-ol

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    In the title compound, C13H12O, the cyclopentene ring fused with the naphthalene group adopts an envelope conformation. The cyclopentene torsion angle, with the fusion bond at the centre, has a magnitude of 1.16 (16)°. In the crystal, neighbouring molecules are connected through O—H...O hydrogen bonds into an R44(8) ring motif. The crystal packing also features weak π–π stacking interactions [centroid–centroid distance = 3.8981 (8) Å] and C—H...π interactions

    2,5-Dibromoindan-1-ol

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    In the title compound, C9H8Br2O, the cyclopentene ring adopts an envelope conformation with the brominated C atom as the flap. In the crystal, molecules are linked by strong O—H...O hydrogen bonds into zigzag C(4) chains along [010]. In addition, a C—H...π interaction involving the benzene ring and the H atom attached to the hydroxylated C atom is observed
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