133 related articles for article (PubMed ID: 36514469)
1. CASQ1-related myopathy: The first report from China and the literature review.
Zhang KY; Zhang GJ; Duan HQ; Li QX; Huang K; Xu LQ; Yang H; Luo YB
Clin Case Rep; 2022 Dec; 10(12):e6689. PubMed ID: 36514469
[TBL] [Abstract][Full Text] [Related]
2. A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
Rossi D; Vezzani B; Galli L; Paolini C; Toniolo L; Pierantozzi E; Spinozzi S; Barone V; Pegoraro E; Bello L; Cenacchi G; Vattemi G; Tomelleri G; Ricci G; Siciliano G; Protasi F; Reggiani C; Sorrentino V
Hum Mutat; 2014 Oct; 35(10):1163-70. PubMed ID: 25116801
[TBL] [Abstract][Full Text] [Related]
3. Mice null for calsequestrin 1 exhibit deficits in functional performance and sarcoplasmic reticulum calcium handling.
Olojo RO; Ziman AP; Hernández-Ochoa EO; Allen PD; Schneider MF; Ward CW
PLoS One; 2011; 6(12):e27036. PubMed ID: 22164205
[TBL] [Abstract][Full Text] [Related]
4. The clinical spectrum of
Semplicini C; Bertolin C; Bello L; Pantic B; Guidolin F; Vianello S; Catapano F; Colombo I; Moggio M; Gavassini BF; Cenacchi G; Papa V; Previtero M; Calore C; Sorarù G; Minervini G; Tosatto SCE; Stramare R; Pegoraro E
Neurology; 2018 Oct; 91(17):e1629-e1641. PubMed ID: 30258016
[TBL] [Abstract][Full Text] [Related]
5. Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
Hanna AD; Lee CS; Babcock L; Wang H; Recio J; Hamilton SL
FASEB J; 2021 May; 35(5):e21349. PubMed ID: 33786938
[TBL] [Abstract][Full Text] [Related]
6. Calsequestrin, a key protein in striated muscle health and disease.
Rossi D; Gamberucci A; Pierantozzi E; Amato C; Migliore L; Sorrentino V
J Muscle Res Cell Motil; 2021 Jun; 42(2):267-279. PubMed ID: 32488451
[TBL] [Abstract][Full Text] [Related]
7. Calsequestrin 1 Is an Active Partner of Stromal Interaction Molecule 2 in Skeletal Muscle.
Jeong SY; Oh MR; Choi JH; Woo JS; Lee EH
Cells; 2021 Oct; 10(11):. PubMed ID: 34831044
[TBL] [Abstract][Full Text] [Related]
8. A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.
D'Adamo MC; Sforna L; Visentin S; Grottesi A; Servettini L; Guglielmi L; Macchioni L; Saredi S; Curcio M; De Nuccio C; Hasan S; Corazzi L; Franciolini F; Mora M; Catacuzzeno L; Pessia M
PLoS One; 2016; 11(5):e0155516. PubMed ID: 27196359
[TBL] [Abstract][Full Text] [Related]
9. Lessons from calsequestrin-1 ablation in vivo: much more than a Ca(2+) buffer after all.
Protasi F; Paolini C; Canato M; Reggiani C; Quarta M
J Muscle Res Cell Motil; 2011 Dec; 32(4-5):257-70. PubMed ID: 22130610
[TBL] [Abstract][Full Text] [Related]
10. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone V; Del Re V; Gamberucci A; Polverino V; Galli L; Rossi D; Costanzi E; Toniolo L; Berti G; Malandrini A; Ricci G; Siciliano G; Vattemi G; Tomelleri G; Pierantozzi E; Spinozzi S; Volpi N; Fulceri R; Battistutta R; Reggiani C; Sorrentino V
Hum Mutat; 2017 Dec; 38(12):1761-1773. PubMed ID: 28895244
[TBL] [Abstract][Full Text] [Related]
11. Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice.
Tomasi M; Canato M; Paolini C; Dainese M; Reggiani C; Volpe P; Protasi F; Nori A
Am J Physiol Cell Physiol; 2012 Feb; 302(3):C575-86. PubMed ID: 22049211
[TBL] [Abstract][Full Text] [Related]
12. Functional Calsequestrin-1 Is Expressed in the Heart and Its Deficiency Is Causally Related to Malignant Hyperthermia-Like Arrhythmia.
Sun Z; Wang L; Han L; Wang Y; Zhou Y; Li Q; Wu Y; Talabieke S; Hou Y; Wu L; Liu R; Fu Z; You H; Li BY; Zheng Y; Luo D
Circulation; 2021 Sep; 144(10):788-804. PubMed ID: 34162222
[TBL] [Abstract][Full Text] [Related]
13. [Identification of a novel variant in a patient with Calsequestrin 1 related myopathy].
Guo X; Zhao Z; Shen H; Bing Q; Xie S; Hu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):745-748. PubMed ID: 38818562
[TBL] [Abstract][Full Text] [Related]
14. Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice.
Dainese M; Quarta M; Lyfenko AD; Paolini C; Canato M; Reggiani C; Dirksen RT; Protasi F
FASEB J; 2009 Jun; 23(6):1710-20. PubMed ID: 19237502
[TBL] [Abstract][Full Text] [Related]
15. CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population.
Kraeva N; Zvaritch E; Frodis W; Sizova O; Kraev A; MacLennan DH; Riazi S
Anesthesiology; 2013 Feb; 118(2):344-9. PubMed ID: 23460944
[TBL] [Abstract][Full Text] [Related]
16. Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice.
Paolini C; Quarta M; Wei-LaPierre L; Michelucci A; Nori A; Reggiani C; Dirksen RT; Protasi F
Skelet Muscle; 2015; 5():10. PubMed ID: 26075051
[TBL] [Abstract][Full Text] [Related]
17. A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
Di Blasi C; Sansanelli S; Ruggieri A; Moriggi M; Vasso M; D'Adamo AP; Blasevich F; Zanotti S; Paolini C; Protasi F; Tezzon F; Gelfi C; Morandi L; Pessia M; Mora M
J Med Genet; 2015 Sep; 52(9):617-26. PubMed ID: 26136523
[TBL] [Abstract][Full Text] [Related]
18. Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice.
Mosca B; Delbono O; Laura Messi M; Bergamelli L; Wang ZM; Vukcevic M; Lopez R; Treves S; Nishi M; Takeshima H; Paolini C; Martini M; Rispoli G; Protasi F; Zorzato F
Nat Commun; 2013; 4():1541. PubMed ID: 23443569
[TBL] [Abstract][Full Text] [Related]
19. Calsequestrin: a well-known but curious protein in skeletal muscle.
Woo JS; Jeong SY; Park JH; Choi JH; Lee EH
Exp Mol Med; 2020 Dec; 52(12):1908-1925. PubMed ID: 33288873
[TBL] [Abstract][Full Text] [Related]
20. Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.
Mosca B; Eckhardt J; Bergamelli L; Treves S; Bongianino R; De Negri M; Priori SG; Protasi F; Zorzato F
J Biol Chem; 2016 Jul; 291(28):14555-65. PubMed ID: 27189940
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]