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Journal Articles

Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunction

Noortje W.M. van den Braak, Samuel Kuehs, Greta Z. Peschke, Barbara Namer, Annette Lischka, Katja Eggermann, Christina Dumke, Vishal Sudha Bhagavath Eswaran, Stefan Nikolin, Joachim Weis, Jörg B. Schulz, Angelika Lampert, Ingo Kurth, Roman Rolke, Enrico Leipold, Maike F. Dohrn
Journal: Journal of General Physiology
Series: Voltage-Gated Na Channels
J Gen Physiol (2025) 157 (6): e202413691.
https://doi.org/10.1085/jgp.202413691
Published: 24 October 2025
View article titled, Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunction
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Includes: Supplementary data
Journal Articles

A mechanism for pathological oscillations in mouse retinal ganglion cells in a model of night blindness

Sho Horie, Konan Sakuta, Keigo Tada, Haruki Tokumoto, Taketo Nishimoto, Katsunori Kitano, Masao Tachibana, Chieko Koike
Journal: Journal of General Physiology
J Gen Physiol (2025) 157 (6): e202413749.
https://doi.org/10.1085/jgp.202413749
Published: 16 October 2025
View article titled, A mechanism for pathological oscillations in mouse retinal ganglion cells in a model of night blindness
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Includes: Supplementary data
Journal Articles

SUMOylation and an ATS1 variant converge to disrupt PIP2-dependent gating of Kir2.1

Aishwarya Chandrashekar, Yu Xu, Xinyi Ma, Anne K. Yauch, Elizabeth Scholl, Yuchen Yang, Kirin D. Gada, Takeharu Kawano, Meng Cui, Leigh D. Plant
Journal: Journal of General Physiology
Series: Ion Channels in Health and Disease
J Gen Physiol (2025) 157 (6): e202513837.
https://doi.org/10.1085/jgp.202513837
Published: 14 October 2025
View article titled, SUMOylation and an ATS1 variant converge to disrupt PIP2-dependent gating of Kir2.1
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Includes: Supplementary data
Journal Articles

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice

Rosa Scala, Maya Mukadam, Yuezhou Chen, Courtney Frazier, Nathaniel W. York, Robert C. Tryon, Gretchen A. Meyer, Colin G. Nichols
Journal: Journal of General Physiology
Series: Ion Channels in Health and Disease
J Gen Physiol (2025) 157 (6): e202513781.
https://doi.org/10.1085/jgp.202513781
Published: 07 October 2025
View article titled, Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice
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Journal Articles

Investigating the role of the I–II linker in Nav1.5 channel function

Emily Wagner, Martina Marras, Shashi Kumar, Jacob Kelley, Kiersten Ruff, Jonathan Silva
Journal: Journal of General Physiology
Series: Voltage-Gated Na Channels
J Gen Physiol (2025) 157 (6): e202413692.
https://doi.org/10.1085/jgp.202413692
Published: 04 September 2025
View article titled, Investigating the role of the I–II linker in Nav1.5 channel function
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Includes: Supplementary data
Journal Articles

GRIN2B disease-associated mutations disrupt the function of BK channels and NMDA receptor signaling nanodomains

Rebeca Martínez-Lázaro, Teresa Minguez-Viñas, Andrea Reyes-Carrión, Ricardo Gómez, Diego Alvarez de la Rosa, David Bartolomé-Martín, Teresa Giraldez
Journal: Journal of General Physiology
J Gen Physiol (2025) 157 (5): e202513799.
https://doi.org/10.1085/jgp.202513799
Published: 05 August 2025
View article titled, GRIN2B disease-associated mutations disrupt the function of BK channels and NMDA receptor signaling nanodomains
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Includes: Supplementary data
Journal Articles

Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44

David Gong, Jennifer L. Orthmann-Murphy, Deepak Kumar, Gabriel D. Dungan, Ayman W. El-Hattab, Nicoline Schiess, Yun L. Luo, Mona M. Freidin, Charles K. Abrams
Journal: Journal of General Physiology
J Gen Physiol (2025) 157 (4): e202413617.
https://doi.org/10.1085/jgp.202413617
Published: 10 June 2025
View article titled, Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44
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Includes: Supplementary data
Journal Articles

Obscurin deficiency leads to compensated dilated cardiomyopathy and increased arrhythmias

Josè Manuel Pioner, Enrico Pierantozzi, Raffaele Coppini, Egidio Maria Rubino, Valentina Biasci, Giulia Vitale, Annunziatina Laurino, Lorenzo Santini, Marina Scardigli, Davide Randazzo, Camilla Olianti, Matteo Serano, Daniela Rossi, Chiara Tesi, Elisabetta Cerbai, Stephan Lange, Carlo Reggiani, Leonardo Sacconi, Corrado Poggesi, Cecilia Ferrantini, Vincenzo Sorrentino
Journal: Journal of General Physiology
Series: Contractile Function
J Gen Physiol (2025) 157 (4): e202413696.
https://doi.org/10.1085/jgp.202413696
Published: 14 May 2025
View article titled, Obscurin deficiency leads to compensated dilated cardiomyopathy and increased arrhythmias
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Includes: Supplementary data
Journal Articles

Loss of intracellular FGF14 (iFGF14) increases excitability of mature hippocampal pyramidal neurons

Joseph L. Ransdell, Yarimar Carrasquillo, Marie K. Bosch, Rebecca L. Mellor, David M. Ornitz, Jeanne M. Nerbonne
Journal: Journal of General Physiology
Series: Voltage-Gated Na Channels
J Gen Physiol (2025) 157 (4): e202413597.
https://doi.org/10.1085/jgp.202413597
Published: 05 May 2025
View article titled, Loss of intracellular FGF14 (iFGF14) increases excitability of mature hippocampal pyramidal neurons
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Includes: Supplementary data
Journal Articles

Projections from ventral hippocampus to nucleus accumbens’ cholinergic neurons are altered in depression

In Special Collection:
Neuroscience Collection 2025
Lucian Medrihan, Margarete G. Knudsen, Tatiana Ferraro, Pedro Del Cioppo Vasques, Yevgeniy Romin, Sho Fujisawa, Paul Greengard, Ana Milosevic
Journal: Journal of General Physiology
J Gen Physiol (2025) 157 (3): e202413693.
https://doi.org/10.1085/jgp.202413693
Published: 07 March 2025
View article titled, Projections from ventral hippocampus to nucleus accumbens’ cholinergic neurons are altered in depression
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Journal Articles

Mechanisms underlying the distinct K+ dependencies of periodic paralysis

Brent D. Foy, Chris Dupont, Phillip V. Walker, II, Kirsten Denman, Kathrin L. Engisch, Mark M. Rich
Journal: Journal of General Physiology
J Gen Physiol (2025) 157 (3): e202413610.
https://doi.org/10.1085/jgp.202413610
Published: 04 February 2025
View article titled, Mechanisms underlying the distinct K+ dependencies of periodic paralysis
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Includes: Supplementary data
Journal Articles

The differential impacts of equivalent gating-charge mutations in voltage-gated sodium channels

Eslam Elhanafy, Amin Akbari Ahangar, Rebecca Roth, Tamer M. Gamal El-Din, John R. Bankston, Jing Li
Journal: Journal of General Physiology
Series: Voltage-Gated Na Channels
J Gen Physiol (2025) 157 (2): e202413669.
https://doi.org/10.1085/jgp.202413669
Published: 17 January 2025
View article titled, The differential impacts of equivalent gating-charge mutations in voltage-gated sodium channels
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Includes: Supplementary data
Journal Articles

Reduced voltage-activated Ca2+ release flux in muscle fibers from a rat model of Duchenne dystrophy

Jonathan Schreiber, Ludivine Rotard, Yves Tourneur, Aude Lafoux, Christine Berthier, Bruno Allard, Corinne Huchet, Vincent Jacquemond
Journal: Journal of General Physiology
J Gen Physiol (2024) 157 (2): e202413588.
https://doi.org/10.1085/jgp.202413588
Published: 24 December 2024
View article titled, Reduced voltage-activated Ca2+ release flux in muscle fibers from a rat model of Duchenne dystrophy
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Journal Articles

Mechanisms underlying dilated cardiomyopathy associated with FKBP12 deficiency

Amy D. Hanna, Ting Chang, Kevin S. Ho, Rachel Sue Zhen Yee, William Cameron Walker, Nadia Agha, Chih-Wei Hsu, Sung Yun Jung, Mary E. Dickinson, Md. Abul Hassan Samee, Christopher S. Ward, Chang Seok Lee, George G. Rodney, Susan L. Hamilton
Journal: Journal of General Physiology
J Gen Physiol (2024) 157 (1): e202413583.
https://doi.org/10.1085/jgp.202413583
Published: 11 December 2024
View article titled, Mechanisms underlying dilated cardiomyopathy associated with FKBP12 deficiency
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Includes: Supplementary data
Journal Articles

Exercise training may reduce fragmented mitochondria in the ischemic-reperfused heart through DRP1

Mathilde Dubois, Florian Pallot, Maxime Gouin-Gravezat, Doria Boulghobra, Florence Coste, Guillaume Walther, Gregory Meyer, Isabelle Bornard, Cyril Reboul
Journal: Journal of General Physiology
J Gen Physiol (2024) 156 (12): e202313485.
https://doi.org/10.1085/jgp.202313485
Published: 07 November 2024
View article titled, Exercise training may reduce fragmented mitochondria in the ischemic-reperfused heart through DRP1
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Includes: Supplementary data
Journal Articles

Interplay of Nav1.8 and Nav1.7 channels drives neuronal hyperexcitability in neuropathic pain

In Special Collection:
Neuroscience Collection 2025
Dmytro V. Vasylyev, Peng Zhao, Betsy R. Schulman, Stephen G. Waxman
Journal: Journal of General Physiology
Series: Voltage-Gated Na Channels
J Gen Physiol (2024) 156 (11): e202413596.
https://doi.org/10.1085/jgp.202413596
Published: 08 October 2024
View article titled, Interplay of Nav1.8 and Nav1.7 channels drives neuronal hyperexcitability in neuropathic pain
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Includes: Supplementary data
Journal Articles

A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function

Helmuth A. Sanchez, Lina Kraujaliene, Vytas K. Verselis
Journal: Journal of General Physiology
J Gen Physiol (2024) 156 (11): e202313502.
https://doi.org/10.1085/jgp.202313502
Published: 20 September 2024
View article titled, A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function
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Journal Articles

An Ala/Glu difference in E1 of Cx26 and Cx30 contributes to their differential anionic permeabilities

Lina Kraujaliene, Tadas Kraujalis, Mindaugas Snipas, Vytas K. Verselis
Journal: Journal of General Physiology
J Gen Physiol (2024) 156 (11): e202413600.
https://doi.org/10.1085/jgp.202413600
Published: 20 September 2024
View article titled, An Ala/Glu difference in E1 of Cx26 and Cx30 contributes to their differential anionic permeabilities
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Includes: Supplementary data
Journal Articles

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice

Sofia Benucci, Alexis Ruiz, Martina Franchini, Lucia Ruggiero, Dario Zoppi, Rebecca Sitsapesan, Chris Lindsay, Pawel Pelczar, Laura Pietrangelo, Feliciano Protasi, Susan Treves, Francesco Zorzato
Journal: Journal of General Physiology
J Gen Physiol (2024) 156 (4): e202313486.
https://doi.org/10.1085/jgp.202313486
Published: 04 March 2024
View article titled, A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice
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Includes: Supplementary data
Journal Articles

Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy

Ricardo A. Galli, Tamara C. Borsboom, Charlotte Gineste, Lorenza Brocca, Maira Rossi, Darren T. Hwee, Fady I. Malik, Roberto Bottinelli, Julien Gondin, Maria-Antonietta Pellegrino, Josine M. de Winter, Coen A.C. Ottenheijm
Journal: Journal of General Physiology
J Gen Physiol (2024) 156 (4): e202313471.
https://doi.org/10.1085/jgp.202313471
Published: 20 February 2024
View article titled, Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy
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Includes: Supplementary data