| This study showed that twenty-two CASQ1-mutated patients (12 families) were identified, 21 sharing the previously described founder mutation (p.Asp244Gly) and 1 with the p.Gly103Asp mutation. | The clinical spectrum of CASQ1-related myopathy.
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., Free PMC Article | 08/31/2019 |
| These results widen the spectrum of skeletal muscle diseases associated with CASQ1 and indicate that these mutations affect properties critical for correct Ca(2+) handling in skeletal muscle fibers. | 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. | 06/23/2018 |
| the p.D244G variant in CASQ1 is associated with a skeletal muscle disease and alters sarcoplasmic calcium release | 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., Free PMC Article | 07/22/2017 |
| Calsequestrin-1 monomers suppress Store-Operated Ca2+ Entry by interacting with STIM1 and attenuating STIM1 aggregation via its C-terminal amino acid 362-396. | Calsequestrin-1 Regulates Store-Operated Ca2+ Entry by Inhibiting STIM1 Aggregation.
Zhang L, Wang L, Li S, Xue J, Luo D. | 02/18/2017 |
| the protein aggregate myopathy with benign evolution and muscle inclusions composed of excess CASQ1 due to the D244G heterozygous missense mutation in the CASQ1 gene | 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. | 06/4/2016 |
| Equilibrium dialysis and turbidity measurements showed that D244G and, to a lesser extent, M87T partially lose Ca(2+) binding exhibited by wild type calsequestrin 1 at high Ca(2+) concentrations. | Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
Lewis KM, Ronish LA, Ríos E, Kang C., Free PMC Article | 03/19/2016 |
| Missense mutation in CASQ1 gene causes the formation of abnormal sarcoplasmic reticulum (SR) vacuoles containing aggregates of CASQ1 results in altered Ca2+ release, and vacuolar myopathy patients phenotype. | 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., Free PMC Article | 06/20/2015 |
| There is a significant association between SNP A175G and heat stroke. | An association study of CASQ1 gene polymorphisms and heat stroke.
Li Y, Wang Y, Ma L., Free PMC Article | 09/27/2014 |
| The sarcoplasmic reticulum calcium content in human type II fibres is primarily determined by the CSQ1 abundance, and in type I fibres, by the combined amounts of both CSQ1 and CSQ2. | Endogenous and maximal sarcoplasmic reticulum calcium content and calsequestrin expression in type I and type II human skeletal muscle fibres.
Lamboley CR, Murphy RM, McKenna MJ, Lamb GD., Free PMC Article | 08/23/2014 |
| a direct interaction of dysferlin with Trim72/MG53, AHNAK, cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with caveolin-3 or dystrophin, is reported. | Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Flix B, de la Torre C, Castillo J, Casal C, Illa I, Gallardo E. | 02/15/2014 |
| CASQ1 is not a major malignant hyperthermia susceptibility locus in the North American population | 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. | 07/13/2013 |
| Downregulation of CSQ-1 in diabetic platelets and impairment of CSQ-1 in normal cells leads to disturbed Ca(2+) release, demonstrating a potential role for CSQ-1 in the regulation of the platelet Ca(2+) release process | Potential regulatory role of calsequestrin in platelet Ca(2+) homeostasis and its association with platelet hyperactivity in diabetes mellitus.
Zhu Z, Zhou H, Yu X, Chen L, Zhang H, Ren S, Wu Y, Luo D. | 12/22/2012 |
| a mechanism for the observed in vitro and in vivo dynamic high-capacity and low-affinity Ca(2+)-binding activity of calsequestrin | High-capacity Ca2+ binding of human skeletal calsequestrin.
Sanchez EJ, Lewis KM, Danna BR, Kang C., Free PMC Article | 09/22/2012 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
Jablonski KA, McAteer JB, de Bakker PI, Franks PW, Pollin TI, Hanson RL, Saxena R, Fowler S, Shuldiner AR, Knowler WC, Altshuler D, Florez JC, Diabetes Prevention Program Research Group., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Type 2 diabetes susceptibility genes on chromosome 1q21-24.
Hasstedt SJ, Chu WS, Das SK, Wang H, Elbein SC. | 04/3/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesPolymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner.
Wilton SB, Anderson TJ, Parboosingh J, Bridge PJ, Exner DV, Forrest D, Duff HJ. Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7,088 Danish whites.
Sparsø T, Hussain MS, Borch-Johnsen K, Jørgensen T, Madsbad S, Hansen T, Pedersen O, Andersen G, Sparsø T, Hussain MS, Borch-Johnsen K, Jørgensen T, Madsbad S, Hansen T, Pedersen O, Andersen G. Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish.
Fu M, Damcott CM, Sabra M, Pollin TI, Ott SH, Wang J, Garant MJ, O'Connell JR, Mitchell BD, Shuldiner AR, Fu M, Damcott CM, Sabra M, Pollin TI, Ott SH, Wang J, Garant MJ, O'Connell JR, Mitchell BD, Shuldiner AR. | 03/13/2008 |
| CASQ1 polymorphism is not associated with type 2 diabetes | Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7,088 Danish whites.
Sparsø T, Hussain MS, Borch-Johnsen K, Jørgensen T, Madsbad S, Hansen T, Pedersen O, Andersen G, Sparsø T, Hussain MS, Borch-Johnsen K, Jørgensen T, Madsbad S, Hansen T, Pedersen O, Andersen G. | 01/21/2010 |
| Phospholamban in the human esophagus might be of less importance for regulation of SERCA than in heart. Lower expression of calsequestrin and calreticulin might contribute to increased lower esophageal sphincter pressure in achalasia. | Reduced expression of Ca2+-regulating proteins in the upper gastrointestinal tract of patients with achalasia.
Fischer H, Fischer J, Boknik P, Gergs U, Schmitz W, Domschke W, Konturek JW, Neumann J., Free PMC Article | 01/21/2010 |
| Noncoding single nucleotide polymorphisms in CASQ1 alter diabetes susceptibility, either by a direct effect on CASQ1 gene expression or perhaps by regulating a nearby gene. | Calsquestrin 1 (CASQ1) gene polymorphisms under chromosome 1q21 linkage peak are associated with type 2 diabetes in Northern European Caucasians.
Das SK, Chu W, Zhang Z, Hasstedt SJ, Elbein SC. | 01/21/2010 |
| Single nucleotide polymorphisms within CASQ1 were genotyped in Amish subjects with type 2 diabetes, glucose intolerance and normals. | Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish.
Fu M, Damcott CM, Sabra M, Pollin TI, Ott SH, Wang J, Garant MJ, O'Connell JR, Mitchell BD, Shuldiner AR, Fu M, Damcott CM, Sabra M, Pollin TI, Ott SH, Wang J, Garant MJ, O'Connell JR, Mitchell BD, Shuldiner AR. | 01/21/2010 |