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  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.

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Genre: Journal Article
Alternative Title : Neurogenetics

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

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Free keywords: 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)
 Abstract: 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.

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Language(s): eng - English
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Title: Neurogenetics
  Alternative Title : Neurogenetics
Source Genre: Journal
 Creator(s):
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Publ. Info: -
Pages: - Volume / Issue: 11 (2) Sequence Number: - Start / End Page: 251 - 255 Identifier: ISSN: 1364-6745