| Editorial commentary: Genomic and precision medicine provides deeper insights into the genetic basis of diverse JPH2-mediated phenotypes. | Editorial commentary: Genomic and precision medicine provides deeper insights into the genetic basis of diverse JPH2-mediated phenotypes.
Patel V, Chahal CAA. | 01/21/2023 |
| One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2. | One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.
Parker LE, Kramer RJ, Kaplan S, Landstrom AP., Free PMC Article | 01/21/2023 |
| Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations. | Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations.
Yang ZF, Panwar P, McFarlane CR, Tuinte WE, Campiglio M, Van Petegem F., Free PMC Article | 05/21/2022 |
| Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence. | Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.
Perni S, Beam K., Free PMC Article | 02/5/2022 |
| Sequence determinants of human junctophilin-2 protein nuclear localization and phase separation. | Sequence determinants of human junctophilin-2 protein nuclear localization and phase separation.
Guo A, Fang W, Gibson S. | 11/13/2021 |
| Interaction of the Joining Region in Junctophilin-2 With the L-Type Ca(2+) Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca(2+) Dynamics. | Interaction of the Joining Region in Junctophilin-2 With the L-Type Ca(2+) Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca(2+) Dynamics.
Gross P, Johnson J, Romero CM, Eaton DM, Poulet C, Sanchez-Alonso J, Lucarelli C, Ross J, Gibb AA, Garbincius JF, Lambert J, Varol E, Yang Y, Wallner M, Feldsott EA, Kubo H, Berretta RM, Yu D, Rizzo V, Elrod J, Sabri A, Gorelik J, Chen X, Houser SR., Free PMC Article | 07/31/2021 |
| Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling. | Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling.
Lahiri SK, Quick AP, Samson-Couterie B, Hulsurkar M, Elzenaar I, van Oort RJ, Wehrens XHT., Free PMC Article | 07/10/2021 |
| Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. | Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP., Free PMC Article | 11/21/2020 |
| Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis. | Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis.
Brandenburg S, Pawlowitz J, Eikenbusch B, Peper J, Kohl T, Mitronova GY, Sossalla S, Hasenfuss G, Wehrens XH, Kohl P, Rog-Zielinska EA, Lehnart SE., Free PMC Article | 08/29/2020 |
| The palmitoylatable Cys residues in JPH2 are conserved in other JPHs, suggesting that palmitoylation may also enhance ER/SR-PM tethering by these proteins. | S-Palmitoylation of junctophilin-2 is critical for its role in tethering the sarcoplasmic reticulum to the plasma membrane.
Jiang M, Hu J, White FKH, Williamson J, Klymchenko AS, Murthy A, Workman SW, Tseng GN., Free PMC Article | 04/4/2020 |
| Junctophilin 2, as junctional membrane complex (JMC) protein, is an important regulator of the cardiac SK channels | Functional interaction of Junctophilin 2 with small- conductance Ca(2+) -activated potassium channel subtype 2(SK2) in mouse cardiac myocytes.
Fan HK, Luo TX, Zhao WD, Mu YH, Yang Y, Guo WJ, Tu HY, Zhang Q., Free PMC Article | 07/20/2019 |
| the heterozygous JPH2 p.(Thr161Lys) variant is a new Finnish mutation causing atypical hypertrophic cardiomyopathy. | Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM, Leivo K, Seppälä EH, Aalto-Setälä K, Pitkänen O, Suursalmi P, Annala AP, Anttila I, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW., Free PMC Article | 02/23/2019 |
| a novel mutation in JPH2 which suggests for the first time that JPH2 could cause dilated cardiomyopathy. | Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M, Navarro M, García-Molina Sáez E, Garrido I, Pascual-Figal D, González Carrillo J, Gimeno Blanes JR. | 10/20/2018 |
| Junctophilin-2 is cleaved by calpain at multiple sites, resulting in dysfunctional junctophilin-2 truncations. | Molecular Determinants of Calpain-dependent Cleavage of Junctophilin-2 Protein in Cardiomyocytes.
Guo A, Hall D, Zhang C, Peng T, Miller JD, Kutschke W, Grueter CE, Johnson FL, Lin RZ, Song LS., Free PMC Article | 10/17/2015 |
| Our data identify a mechanistic link between microtubule densification and T-tubule remodeling and reveal microtubule-mediated JP2 redistribution as a novel mechanism for T-tubule disruption, loss of excitation-contraction coupling, and heart failure. | Microtubule-mediated defects in junctophilin-2 trafficking contribute to myocyte transverse-tubule remodeling and Ca2+ handling dysfunction in heart failure.
Zhang C, Chen B, Guo A, Zhu Y, Miller JD, Gao S, Yuan C, Kutschke W, Zimmerman K, Weiss RM, Wehrens XH, Hong J, Johnson FL, Santana LF, Anderson ME, Song LS., Free PMC Article | 06/28/2014 |
| The S101R mutation may have an effect upon the stability of the JP2 dyad organization with the potential to alter JP2-protein interactions regulating calcium cycling. | Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.
Bennett HJ, Davenport JB, Collins RF, Trafford AW, Pinali C, Kitmitto A., Free PMC Article | 01/11/2014 |
| This study demonstrates that both JP1 and JP2 in skeletal muscle undergo Ca2+-dependent proteolysis by endogenous proteases when the intracellular Ca2+ is raised within the physiological range for a sustained period | Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle.
Murphy RM, Dutka TL, Horvath D, Bell JR, Delbridge LM, Lamb GD., Free PMC Article | 08/3/2013 |
| Hypertrophy in skeletal myotubes induced by junctophilin-2 mutant, Y141H, involves an increase in store-operated Ca2+ entry via Orai1. | Hypertrophy in skeletal myotubes induced by junctophilin-2 mutant, Y141H, involves an increase in store-operated Ca2+ entry via Orai1.
Woo JS, Cho CH, Lee KJ, Kim DH, Ma J, Lee EH., Free PMC Article | 07/7/2012 |
| JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery | Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
Golini L, Chouabe C, Berthier C, Cusimano V, Fornaro M, Bonvallet R, Formoso L, Giacomello E, Jacquemond V, Sorrentino V., Free PMC Article | 02/25/2012 |
| Loss-of-function mutations in JPH2 leads to cardiac-specific JPH2 deficiency and results in impaired cardiac contractility, causing heart failure and increased mortality. | Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice.
van Oort RJ, Garbino A, Wang W, Dixit SS, Landstrom AP, Gaur N, De Almeida AC, Skapura DG, Rudy Y, Burns AR, Ackerman MJ, Wehrens XH., Free PMC Article | 05/21/2011 |
| JPH2 levels are reduced in patients with hypertrophic cardiomyopathy. Reduced JPH2 expression results in reduced excitation-contraction coupling gain as well as altered Ca(2+) homeostasis, which may be associated with prohypertrophic remodeling. | Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.
Landstrom AP, Kellen CA, Dixit SS, van Oort RJ, Garbino A, Weisleder N, Ma J, Wehrens XH, Ackerman MJ., Free PMC Article | 05/21/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle. | S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
Woo JS, Hwang JH, Ko JK, Weisleder N, Kim DH, Ma J, Lee EH. | 04/19/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesMutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.
Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R, Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R. | 03/13/2008 |
| this is the first report on JPH2 mutation associated with hypertrophic cardiomyopathy | Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R, Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R. | 01/21/2010 |