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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Published in:
2022
By:
- Dahimene, Shehrazade;
- Elsner, Leonie von;
- Holling, Tess;
- Mattas, Lauren S;
- Pickard, Jess;
- Lessel, Davor;
- Pilch, Kjara S;
- Kadurin, Ivan;
- Pratt, Wendy S;
- Zhulin, Igor B;
- Dai, Hongzheng;
- Hempel, Maja;
- Ruzhnikov, Maura R Z;
- Kutsche, Kerstin;
- Dolphin, Annette C;
- von Elsner, Leonie
Publication type:
journal article
Dominant-Negative Calcium Channel Suppression by Truncated Constructs Involves a Kinase Implicated in the Unfolded Protein Response.
Published in:
Journal of Neuroscience, 2004, v. 24, n. 23, p. 5400, doi. 10.1523/JNEUROSCI.0553-04.2004
By:
- Page, Karen M.;
- Heblich, Fay;
- Davies, Anthony;
- Butcher, Adrian J.;
- Leroy, Jerôme;
- Bertaso, Federica;
- Pratt, Wendy S.;
- Dolphin, Annette C.
Publication type:
Article
The importance of occupancy rather than affinity of CaVβ subunits for the calcium channel I–II linker in relation to calcium channel function.
Published in:
Journal of Physiology, 2006, v. 574, n. 2, p. 387, doi. 10.1113/jphysiol.2006.109744
By:
- Butcher, Adrian J.;
- Leroy, Jérême;
- Richards, Mark W.;
- Pratt, Wendy S.;
- Dolphin, Annette C.
Publication type:
Article
Proteolytic maturation of α2δ represents a checkpoint for activation and neuronal trafficking of latent calcium channels.
Published in:
eLife, 2016, p. 1, doi. 10.7554/eLife.21143
By:
- Kadurin, Ivan;
- Ferron, Laurent;
- Rothwell, Simon W.;
- Meyer, James O.;
- Douglas, Leon R.;
- Bauer, Claudia S.;
- Lana, Beatrice;
- Margas, Wojciech;
- Alexopoulos, Orpheas;
- Nieto-Rostro, Manuela;
- Pratt, Wendy S.;
- Dolphin, Annette C.
Publication type:
Article
The Stargazin-Related Protein γ7 Interacts with the mRNA-Binding Protein Heterogeneous Nuclear Ribonucleoprotein A2 and Regulates the Stability of Specific mRNAs, Including CaV2.2.
Published in:
Journal of Neuroscience, 2008, v. 28, n. 42, p. 10604, doi. 10.1523/JNEUROSCI.2709-08.2008
By:
- Ferron, Laurent;
- Davies, Anthony;
- Page, Karen M.;
- Cox, David J.;
- Leroy, Jerôme;
- Waithe, Dominic;
- Butcher, Adrian J.;
- Sellaturay, Priya;
- Bolsover, Steven;
- Pratt, Wendy S.;
- Moss, Fraser J.;
- Dolphin, Annette C.
Publication type:
Article
The Calcium Channel α2δ-2 Subunit Partitions with CaV2.1 into Lipid Rafts in Cerebellum: Implications for Localization and Function.
Published in:
Journal of Neuroscience, 2006, v. 26, n. 34, p. 8748, doi. 10.1523/JNEUROSCI.2764-06.2006
By:
- Davies, Anthony;
- Douglas, Leon;
- Hendrich, Jan;
- Wratten, Jack;
- Tran Van Minh, Alexandra;
- Foucault, Isabelle;
- Koch, Dietlind;
- Pratt, Wendy S.;
- Saibil, Helen R.;
- Dolphin, Annette C.
Publication type:
Article
Interaction via a Key Tryptophan in the I-II Linker of N-Type Calcium Channels Is Required for β1 But Not for Palmitoylated β2, Implicating an Additional Binding Site in the Regulation of Channel Voltage-Dependent Properties.
Published in:
Journal of Neuroscience, 2005, v. 25, n. 30, p. 6984, doi. 10.1523/JNEUROSCI.1137-05.2005
By:
- Leroy, Jérôme;
- Richards, Mark S.;
- Butcher, Adrian J.;
- Nieto-Rostro, Manuela;
- Pratt, Wendy S.;
- Davies, Anthony;
- Dolphin, Annette C.
Publication type:
Article
Determinants of the voltage dependence of G protein modulation within calcium channel β subunits.
Published in:
Pflügers Archiv: European Journal of Physiology, 2009, v. 457, n. 4, p. 743, doi. 10.1007/s00424-008-0549-7
By:
- Dresviannikov, Andriy V.;
- Page, Karen M.;
- Leroy, Jerôme;
- Pratt, Wendy S.;
- Dolphin, Annette C.
Publication type:
Article

Found: 8

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Dominant-Negative Calcium Channel Suppression by Truncated Constructs Involves a Kinase Implicated in the Unfolded Protein Response.

The importance of occupancy rather than affinity of Ca<sub>V</sub>β subunits for the calcium channel I–II linker in relation to calcium channel function.

Proteolytic maturation of α<sub>2</sub>δ represents a checkpoint for activation and neuronal trafficking of latent calcium channels.

The Stargazin-Related Protein γ7 Interacts with the mRNA-Binding Protein Heterogeneous Nuclear Ribonucleoprotein A2 and Regulates the Stability of Specific mRNAs, Including Ca<sub>V</sub>2.2.

The Calcium Channel α<sub>2</sub>δ-2 Subunit Partitions with Ca<sub>V</sub>2.1 into Lipid Rafts in Cerebellum: Implications for Localization and Function.

Interaction via a Key Tryptophan in the I-II Linker of N-Type Calcium Channels Is Required for β1 But Not for Palmitoylated β2, Implicating an Additional Binding Site in the Regulation of Channel Voltage-Dependent Properties.

Determinants of the voltage dependence of G protein modulation within calcium channel β subunits.