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The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice.

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The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice. / Lappe-Siefke, Corinna; Löbrich, Sven; Hevers, Wulf; Waidmann, Oliver B; Schweizer, Michaela; Fehr, Susanne; Fritschy, Jean-Marc; Dikic, Ivan; Eilers, Jens; Wilson, Scott M; Kneussel, Matthias.

In: PLOS GENET, Vol. 5, No. 9, 9, 2009, p. 1000631.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Lappe-Siefke, C, Löbrich, S, Hevers, W, Waidmann, OB, Schweizer, M, Fehr, S, Fritschy, J-M, Dikic, I, Eilers, J, Wilson, SM & Kneussel, M 2009, 'The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice.', PLOS GENET, vol. 5, no. 9, 9, pp. 1000631. https://doi.org/10.1371/journal.pgen.1000631

APA

Lappe-Siefke, C., Löbrich, S., Hevers, W., Waidmann, O. B., Schweizer, M., Fehr, S., Fritschy, J-M., Dikic, I., Eilers, J., Wilson, S. M., & Kneussel, M. (2009). The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice. PLOS GENET, 5(9), 1000631. [9]. https://doi.org/10.1371/journal.pgen.1000631

Vancouver

Lappe-Siefke C, Löbrich S, Hevers W, Waidmann OB, Schweizer M, Fehr S et al. The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice. PLOS GENET. 2009;5(9):1000631. 9. https://doi.org/10.1371/journal.pgen.1000631

Bibtex

@article{2feacad3ff1c495ab5e34f3d2085bab5,
title = "The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice.",
abstract = "Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor coordination. Although different genetic mutations are known that cause ataxia, little is known about the underlying cellular mechanisms. Here we show that a mutated ax(J) gene locus, encoding the ubiquitin-specific protease 14 (Usp14), negatively influences synaptic receptor turnover. Ax(J) mouse mutants, characterized by cerebellar ataxia, display both increased GABA(A) receptor (GABA(A)R) levels at PC surface membranes accompanied by enlarged IPSCs. Accordingly, we identify physical interaction of Usp14 and the GABA(A)R alpha1 subunit. Although other currently unknown changes might be involved, our data show that ubiquitin-dependent GABA(A)R turnover at cerebellar synapses contributes to ax(J)-mediated behavioural impairment.",
author = "Corinna Lappe-Siefke and Sven L{\"o}brich and Wulf Hevers and Waidmann, {Oliver B} and Michaela Schweizer and Susanne Fehr and Jean-Marc Fritschy and Ivan Dikic and Jens Eilers and Wilson, {Scott M} and Matthias Kneussel",
year = "2009",
doi = "10.1371/journal.pgen.1000631",
language = "Deutsch",
volume = "5",
pages = "1000631",
journal = "PLOS GENET",
issn = "1553-7404",
publisher = "Public Library of Science",
number = "9",

}

RIS

TY - JOUR

T1 - The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice.

AU - Lappe-Siefke, Corinna

AU - Löbrich, Sven

AU - Hevers, Wulf

AU - Waidmann, Oliver B

AU - Schweizer, Michaela

AU - Fehr, Susanne

AU - Fritschy, Jean-Marc

AU - Dikic, Ivan

AU - Eilers, Jens

AU - Wilson, Scott M

AU - Kneussel, Matthias

PY - 2009

Y1 - 2009

N2 - Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor coordination. Although different genetic mutations are known that cause ataxia, little is known about the underlying cellular mechanisms. Here we show that a mutated ax(J) gene locus, encoding the ubiquitin-specific protease 14 (Usp14), negatively influences synaptic receptor turnover. Ax(J) mouse mutants, characterized by cerebellar ataxia, display both increased GABA(A) receptor (GABA(A)R) levels at PC surface membranes accompanied by enlarged IPSCs. Accordingly, we identify physical interaction of Usp14 and the GABA(A)R alpha1 subunit. Although other currently unknown changes might be involved, our data show that ubiquitin-dependent GABA(A)R turnover at cerebellar synapses contributes to ax(J)-mediated behavioural impairment.

AB - Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor coordination. Although different genetic mutations are known that cause ataxia, little is known about the underlying cellular mechanisms. Here we show that a mutated ax(J) gene locus, encoding the ubiquitin-specific protease 14 (Usp14), negatively influences synaptic receptor turnover. Ax(J) mouse mutants, characterized by cerebellar ataxia, display both increased GABA(A) receptor (GABA(A)R) levels at PC surface membranes accompanied by enlarged IPSCs. Accordingly, we identify physical interaction of Usp14 and the GABA(A)R alpha1 subunit. Although other currently unknown changes might be involved, our data show that ubiquitin-dependent GABA(A)R turnover at cerebellar synapses contributes to ax(J)-mediated behavioural impairment.

U2 - 10.1371/journal.pgen.1000631

DO - 10.1371/journal.pgen.1000631

M3 - SCORING: Zeitschriftenaufsatz

VL - 5

SP - 1000631

JO - PLOS GENET

JF - PLOS GENET

SN - 1553-7404

IS - 9

M1 - 9

ER -