Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT
  A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

Zanni, G., van Esch, H., Bensalem, A., Saillour, Y., Poirier, K., Castelnau, L., et al. (n.d.). A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics, 11(2), 251-255. doi:10.1007/s10048-009-0224-y.

Item is

Basisdaten

einblenden: ausblenden:
Genre: Zeitschriftenartikel
Alternativer Titel : Neurogenetics

Externe Referenzen

einblenden:

Urheber

einblenden:
ausblenden:
 Urheber:
Zanni, Ginevra, Autor
van Esch, Hilde, Autor
Bensalem, Anissa, Autor
Saillour, Yoann, Autor
Poirier, Karine, Autor
Castelnau, Laetitia, Autor
Ropers, Hans-Hilger1, Autor           
. de Brouwer, Arjan P. M., Autor
Laumonnier, Fréderic, Autor
Fryns, Jean-Pierre, Autor
Chelly, Jamel, Autor
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

Inhalt

einblenden:
ausblenden:
Schlagwörter: Synapse-associated protein 102 (SAP102; X-linked mental retardation (XLMR); Disc-large homolog 3 (DLG3); Methyl-d-aspartate receptor (NMDAR); Membrane-associated guanylate kinase protein (MAGUK)
 Zusammenfassung: We have identified a novel splice site mutation (IVS6-1G > A) in the disc-large homolog 3 (DLG3) gene, encoding the synapse-associated protein 102 (SAP102) in one out of 300 families with moderate to severe non-syndromic mental retardation. SAP102 is a member of the neuronal membrane-associated guanylate kinase protein subfamily comprising SAP97, postsynaptic density (PSD)95, and PSD93, which interacts with methyl-d-aspartate receptor and associated protein complexes at the postsynaptic density of excitatory synapses. DLG3 is the first mental retardation gene directly linked to glutamate receptor signalling and trafficking, increasingly recognised as a central mechanism in the regulation of synaptic formation and plasticity in brain and cognitive development.

Details

einblenden:
ausblenden:
Sprache(n): eng - English
 Datum:
 Publikationsstatus: Keine Angabe
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: Neurogenetics
  Alternativer Titel : Neurogenetics
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 11 (2) Artikelnummer: - Start- / Endseite: 251 - 255 Identifikator: ISSN: 1364-6745