Gomeza, Jesús ; Ohno, Koji ; Hülsmann, Swen ; Armsen, Wencke ; Eulenburg, Volker ; Richter, Diethelm W. ; Laube, Bodo ; Betz, Heinrich (2003)
Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality.
In: Neuron, 40 (4)
Artikel, Bibliographie
Kurzbeschreibung (Abstract)
The glycine transporter subtype 2 (GlyT2) is localized in the axon terminals of glycinergic neurons. Mice deficient in GlyT2 are normal at birth but during the second postnatal week develop a lethal neuromotor deficiency that resembles severe forms of human hyperekplexia (hereditary startle disease) and is characterized by spasticity, tremor, and an inability to right. Histological and immunological analyses failed to reveal anatomical or biochemical abnormalities, but the amplitudes of glycinergic miniature inhibitory currents (mIPSCs) were strikingly reduced in hypoglossal motoneurons and dissociated spinal neurons from GlyT2-deficient mice. Thus, postnatal GlyT2 function is crucial for efficient transmitter loading of synaptic vesicles in glycinergic nerve terminals, and the GlyT2 gene constitutes a candidate disease gene in human hyperekplexia patients.
| Typ des Eintrags: | Artikel |
|---|---|
| Erschienen: | 2003 |
| Autor(en): | Gomeza, Jesús ; Ohno, Koji ; Hülsmann, Swen ; Armsen, Wencke ; Eulenburg, Volker ; Richter, Diethelm W. ; Laube, Bodo ; Betz, Heinrich |
| Art des Eintrags: | Bibliographie |
| Titel: | Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality. |
| Sprache: | Englisch |
| Publikationsjahr: | 2003 |
| Titel der Zeitschrift, Zeitung oder Schriftenreihe: | Neuron |
| Jahrgang/Volume einer Zeitschrift: | 40 |
| (Heft-)Nummer: | 4 |
| Kurzbeschreibung (Abstract): | The glycine transporter subtype 2 (GlyT2) is localized in the axon terminals of glycinergic neurons. Mice deficient in GlyT2 are normal at birth but during the second postnatal week develop a lethal neuromotor deficiency that resembles severe forms of human hyperekplexia (hereditary startle disease) and is characterized by spasticity, tremor, and an inability to right. Histological and immunological analyses failed to reveal anatomical or biochemical abnormalities, but the amplitudes of glycinergic miniature inhibitory currents (mIPSCs) were strikingly reduced in hypoglossal motoneurons and dissociated spinal neurons from GlyT2-deficient mice. Thus, postnatal GlyT2 function is crucial for efficient transmitter loading of synaptic vesicles in glycinergic nerve terminals, and the GlyT2 gene constitutes a candidate disease gene in human hyperekplexia patients. |
| Fachbereich(e)/-gebiet(e): | 10 Fachbereich Biologie 10 Fachbereich Biologie > Neurophysiologie und neurosensorische Systeme ?? fb10_zoologie ?? |
| Hinterlegungsdatum: | 11 Apr 2011 09:42 |
| Letzte Änderung: | 05 Mär 2019 06:48 |
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