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A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.694312
By:
- Zhang, Jin;
- Tang, Weiting;
- Bhatia, Nidhi K.;
- Xu, Yuchen;
- Paudyal, Nabina;
- Liu, Ding;
- Kim, Sukhan;
- Song, Rui;
- XiangWei, Wenshu;
- Shaulsky, Gil;
- Myers, Scott J.;
- Dobyns, William;
- Jayaraman, Vasanthi;
- Traynelis, Stephen F.;
- Yuan, Hongjie;
- Bozarth, Xiuhua
Publication type:
Article
Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.
Published in:
2020
By:
- Amador, Ariadna;
- Bostick, Christopher D;
- Olson, Heather;
- Peters, Jurrian;
- Camp, Chad R;
- Krizay, Daniel;
- Chen, Wenjuan;
- Han, Wei;
- Tang, Weiting;
- Kanber, Ayla;
- Kim, Sukhan;
- Teoh, JiaJie;
- Sah, Megha;
- Petri, Sabrina;
- Paek, Hunki;
- Kim, Ana;
- Lutz, Cathleen M;
- Yang, Mu;
- Myers, Scott J;
- Bhattacharya, Subhrajit
Publication type:
journal article
PTPRG is an ischemia risk locus essential for HCO3--dependent regulation of endothelial function and tissue perfusion.
Published in:
eLife, 2020, p. 1, doi. 10.7554/eLife.57553
By:
- Hansen, Kristoffer B.;
- Staehr, Christian;
- Rohde, Palle D.;
- Homilius, Casper;
- Kim, Sukhan;
- Nyegaard, Mette;
- Matchkov, Vladimir V.;
- Boedtkjer, Ebbe
Publication type:
Article
Positive chronotropic action of HCN channel antagonism in human collecting lymphatic vessels.
Published in:
Physiological Reports, 2022, v. 10, n. 16, p. 1, doi. 10.14814/phy2.15401
By:
- Majgaard, Jens;
- Skov, Frederik G.;
- Kim, Sukhan;
- Hjortdal, Vibeke Elisabeth;
- Boedtkjer, Donna M. B.
Publication type:
Article
Na-K-ATPase regulates intercellular communication in the vascular wall via cSrc kinase-dependent connexin43 phosphorylation.
Published in:
Rural & Remote Health, 2022, v. 22, n. 2, p. C385, doi. 10.1152/ajpcell.00347.2016
By:
- Hangaard, Lise;
- Bouzinova, Elena V.;
- Staehr, Christian;
- Dam, Vibeke S.;
- Kim, Sukhan;
- Zijian Xie;
- Aalkjaer, Christian;
- Matchkov, Vladimir V.
Publication type:
Article
Murine breast cancer feed arteries are thin-walled with reduced α1A-adrenoceptor expression and attenuated sympathetic vasocontraction.
Published in:
2018
By:
- Froelunde, Anne Sofie;
- Ohlenbusch, Marit;
- Hansen, Kristoffer B.;
- Jessen, Nicolai;
- Kim, Sukhan;
- Boedtkjer, Ebbe
Publication type:
journal article
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02756-9
By:
- Lewis, Sara A.;
- Shetty, Sheetal;
- Gamble, Sean;
- Heim, Jennifer;
- Zhao, Ningning;
- Stitt, Gideon;
- Pankratz, Matthew;
- Mangum, Tara;
- Marku, Iris;
- Rosenberg, Robert B.;
- Wilfong, Angus A.;
- Fahey, Michael C.;
- Kim, Sukhan;
- Myers, Scott J.;
- Appavu, Brian;
- Kruer, Michael C.
Publication type:
Article
Smooth muscle Ca 2+ sensitization causes hypercontractility of middle cerebral arteries in mice bearing the familial hemiplegic migraine type 2 associated mutation.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 2019, v. 39, n. 8, p. 1570, doi. 10.1177/0271678X18761712
By:
- Staehr, Christian;
- Hangaard, Lise;
- Bouzinova, Elena V;
- Kim, Sukhan;
- Rajanathan, Rajkumar;
- Boegh Jessen, Peter;
- Luque, Nathan;
- Xie, Zijian;
- Lykke-Hartmann, Karin;
- Sandow, Shaun L;
- Aalkjaer, Christian;
- Matchkov, Vladimir V
Publication type:
Article
Intracellular acidification alters myogenic responsiveness and vasomotion of mouse middle cerebral arteries.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 2014, v. 34, n. 1, p. 161, doi. 10.1038/jcbfm.2013.192
By:
- Thomsen, Axel BK;
- Kim, Sukhan;
- Aalbaek, Filip;
- Aalkjaer, Christian;
- Boedtkjer, Ebbe
Publication type:
Article
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Published in:
Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-023-05069-z
By:
- Xu, Yuchen;
- Song, Rui;
- Perszyk, Riley E.;
- Chen, Wenjuan;
- Kim, Sukhan;
- Park, Kristen L.;
- Allen, James P.;
- Nocilla, Kelsey A.;
- Zhang, Jing;
- XiangWei, Wenshu;
- Tankovic, Anel;
- McDaniels, Ellington D.;
- Sheikh, Rehan;
- Mizu, Ruth K.;
- Karamchandani, Manish M.;
- Hu, Chun;
- Kusumoto, Hirofumi;
- Pecha, Joseph;
- Cappuccio, Gerarda;
- Gaitanis, John
Publication type:
Article
Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening.
Published in:
Cellular & Molecular Life Sciences, 2023, v. 80, n. 4, p. 1, doi. 10.1007/s00018-023-04705-y
By:
- Xie, Lingling;
- McDaniel, Miranda J.;
- Perszyk, Riley E.;
- Kim, Sukhan;
- Cappuccio, Gerarda;
- Shapiro, Kevin A.;
- Muñoz-Cabello, Beatriz;
- Sanchez-Lara, Pedro A.;
- Grand, Katheryn;
- Zhang, Jing;
- Nocilla, Kelsey A.;
- Sheikh, Rehan;
- Armengol, Lluis;
- Romano, Roberta;
- Pierson, Tyler Mark;
- Yuan, Hongjie;
- Myers, Scott J.;
- Traynelis, Stephen F.
Publication type:
Article
Novel neuroactive steroids as positive allosteric modulators of NMDA receptors: mechanism, site of action, and rescue pharmacology on GRIN variants associated with neurological conditions.
Published in:
Cellular & Molecular Life Sciences, 2023, v. 80, n. 2, p. 1, doi. 10.1007/s00018-022-04667-7
By:
- Tang, Weiting;
- Beckley, Jacob T.;
- Zhang, Jin;
- Song, Rui;
- Xu, Yuchen;
- Kim, Sukhan;
- Quirk, Michael C.;
- Robichaud, Albert J.;
- Diaz, Eva Sarai;
- Myers, Scott J.;
- Doherty, James J.;
- Ackley, Michael A.;
- Traynelis, Stephen F.;
- Yuan, Hongjie
Publication type:
Article
Maintained intracellular acidification reduces myogenic tone and vasomotion in mice cerebral arteries (1098.3).
Published in:
FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.1098.3
By:
- Aalkjaer, Christian;
- Thomsen, Axel;
- Kim, Sukhan;
- Aalbaek, Filip;
- Boedtkjer, Ebbe
Publication type:
Article
Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 10, p. e132, doi. 10.1111/epi.17394
By:
- Strehlow, Vincent;
- Rieubland, Claudine;
- Gallati, Sabina;
- Kim, Sukhan;
- Myers, Scott J.;
- Peterson, Vincent;
- Ramsey, Amy J.;
- Teuscher, Daniel D.;
- Traynelis, Stephen F.;
- Lemke, Johannes R.
Publication type:
Article
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 19, p. 2857, doi. 10.1093/hmg/ddad104
By:
- Myers, Scott J;
- Yuan, Hongjie;
- Perszyk, Riley E;
- Zhang, Jing;
- Kim, Sukhan;
- Nocilla, Kelsey A;
- Allen, James P;
- Bain, Jennifer M;
- Lemke, Johannes R;
- Lal, Dennis;
- Benke, Timothy A;
- Traynelis, Stephen F
Publication type:
Article
4-Aminopyridine: a pan voltage-gated potassium channel inhibitor that enhances Kv 7.4 currents and inhibits noradrenaline-mediated contraction of rat mesenteric small arteries.
Published in:
2018
By:
- Khammy, Makhala M;
- Kim, Sukhan;
- Bentzen, Bo H;
- Lee, Soojung;
- Choi, Inyeong;
- Aalkjær, Christian;
- Jepps, Thomas A;
- Aalkjaer, Christian
Publication type:
journal article
Perivascular tissue inhibits rho-kinase-dependent smooth muscle Ca2+ sensitivity and endothelium-dependent H2S signalling in rat coronary arteries.
Published in:
Journal of Physiology, 2015, v. 593, n. 21, p. 4747, doi. 10.1113/JP271006
By:
- Aalbaek, Filip;
- Bonde, Lisbeth;
- Kim, Sukhan;
- Boedtkjer, Ebbe
Publication type:
Article
Voltage-gated sodium channels contribute to action potentials and spontaneous contractility in isolated human lymphatic vessels.
Published in:
Journal of Physiology, 2015, v. 593, n. 14, p. 3109, doi. 10.1113/JP270166
By:
- Telinius, Niklas;
- Majgaard, Jens;
- Kim, Sukhan;
- Katballe, Niels;
- Pahle, Einar;
- Nielsen, Jørn;
- Hjortdal, Vibeke;
- Aalkjaer, Christian;
- Boedtkjer, Donna Briggs
Publication type:
Article
Human lymphatic vessel contractile activity is inhibited in vitro but not in vivo by the calcium channel blocker nifedipine.
Published in:
Journal of Physiology, 2014, v. 592, n. 21, p. 4697, doi. 10.1113/jphysiol.2014.276683
By:
- Telinius, Niklas;
- Mohanakumar, Sheyanth;
- Majgaard, Jens;
- Kim, Sukhan;
- Pilegaard, Hans;
- Pahle, Einar;
- Nielsen, Jørn;
- Leval, Marc;
- Aalkjaer, Christian;
- Hjortdal, Vibeke;
- Boedtkjer, Donna Briggs
Publication type:
Article
Endothelial alkalinisation inhibits gap junction communication and endothelium-derived hyperpolarisations in mouse mesenteric arteries.
Published in:
Journal of Physiology, 2013, v. 591, n. 6, p. 1447, doi. 10.1113/jphysiol.2012.247478
By:
- Boedtkjer, Ebbe;
- Kim, Sukhan;
- Aalkjaer, Christian
Publication type:
Article

Found: 20

A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.

Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.

PTPRG is an ischemia risk locus essential for HCO<sub>3</sub><sup>-</sup>-dependent regulation of endothelial function and tissue perfusion.

Positive chronotropic action of HCN channel antagonism in human collecting lymphatic vessels.

Na-K-ATPase regulates intercellular communication in the vascular wall via cSrc kinase-dependent connexin43 phosphorylation.

Murine breast cancer feed arteries are thin-walled with reduced α<sub>1A</sub>-adrenoceptor expression and attenuated sympathetic vasocontraction.

Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.

Smooth muscle Ca 2+ sensitization causes hypercontractility of middle cerebral arteries in mice bearing the familial hemiplegic migraine type 2 associated mutation.

Intracellular acidification alters myogenic responsiveness and vasomotion of mouse middle cerebral arteries.

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.

Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening.

Novel neuroactive steroids as positive allosteric modulators of NMDA receptors: mechanism, site of action, and rescue pharmacology on GRIN variants associated with neurological conditions.

Maintained intracellular acidification reduces myogenic tone and vasomotion in mice cerebral arteries (1098.3).

Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy.

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.

4-Aminopyridine: a pan voltage-gated potassium channel inhibitor that enhances K<sub>v</sub> 7.4 currents and inhibits noradrenaline-mediated contraction of rat mesenteric small arteries.

Perivascular tissue inhibits rho-kinase-dependent smooth muscle Ca<sup>2+</sup> sensitivity and endothelium-dependent H<sub>2</sub>S signalling in rat coronary arteries.

Voltage-gated sodium channels contribute to action potentials and spontaneous contractility in isolated human lymphatic vessels.

Human lymphatic vessel contractile activity is inhibited in vitro but not in vivo by the calcium channel blocker nifedipine.

Endothelial alkalinisation inhibits gap junction communication and endothelium-derived hyperpolarisations in mouse mesenteric arteries.