214 related articles for article (PubMed ID: 33718371)
1. Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy.
Conte E; Pannunzio A; Imbrici P; Camerino GM; Maggi L; Mora M; Gibertini S; Cappellari O; De Luca A; Coluccia M; Liantonio A
Front Cell Dev Biol; 2021; 9():635063. PubMed ID: 33718371
[TBL] [Abstract][Full Text] [Related]
2. ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain.
Bulla M; Gyimesi G; Kim JH; Bhardwaj R; Hediger MA; Frieden M; Demaurex N
J Physiol; 2019 Jan; 597(2):561-582. PubMed ID: 30382595
[TBL] [Abstract][Full Text] [Related]
3. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Böhm J; Chevessier F; Maues De Paula A; Koch C; Attarian S; Feger C; Hantaï D; Laforêt P; Ghorab K; Vallat JM; Fardeau M; Figarella-Branger D; Pouget J; Romero NB; Koch M; Ebel C; Levy N; Krahn M; Eymard B; Bartoli M; Laporte J
Am J Hum Genet; 2013 Feb; 92(2):271-8. PubMed ID: 23332920
[TBL] [Abstract][Full Text] [Related]
4.
Silva-Rojas R; Laporte J; Böhm J
Front Physiol; 2020; 11():604941. PubMed ID: 33250786
[TBL] [Abstract][Full Text] [Related]
5. STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca
Riva B; Pessolano E; Quaglia E; Cordero-Sanchez C; Bhela IP; Topf A; Serafini M; Cox D; Harris E; Garibaldi M; Barresi R; Pirali T; Genazzani AA
Cell Calcium; 2022 Jul; 105():102605. PubMed ID: 35636153
[TBL] [Abstract][Full Text] [Related]
6. Antioxidants restore store-operated Ca
Sakai-Takemura F; Saito F; Nogami K; Maruyama Y; Elhussieny A; Matsumura K; Takeda S; Aoki Y; Miyagoe-Suzuki Y
FASEB Bioadv; 2023 Nov; 5(11):453-469. PubMed ID: 37936920
[TBL] [Abstract][Full Text] [Related]
7. Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS; Feske S
Ann N Y Acad Sci; 2015 Nov; 1356(1):45-79. PubMed ID: 26469693
[TBL] [Abstract][Full Text] [Related]
8. Role of STIM1/ORAI1-mediated store-operated Ca
Michelucci A; García-Castañeda M; Boncompagni S; Dirksen RT
Cell Calcium; 2018 Dec; 76():101-115. PubMed ID: 30414508
[TBL] [Abstract][Full Text] [Related]
9. ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Böhm J; Bulla M; Urquhart JE; Malfatti E; Williams SG; O'Sullivan J; Szlauer A; Koch C; Baranello G; Mora M; Ripolone M; Violano R; Moggio M; Kingston H; Dawson T; DeGoede CG; Nixon J; Boland A; Deleuze JF; Romero N; Newman WG; Demaurex N; Laporte J
Hum Mutat; 2017 Apr; 38(4):426-438. PubMed ID: 28058752
[TBL] [Abstract][Full Text] [Related]
10. Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G; Biancalana V; Echaniz-Laguna A; Noury JB; Lornage X; Moggio M; Ripolone M; Violano R; Marcorelles P; Maréchal D; Renaud F; Maurage CA; Tard C; Cuisset JM; Laporte J; Böhm J
Hum Mutat; 2020 Jan; 41(1):17-37. PubMed ID: 31448844
[TBL] [Abstract][Full Text] [Related]
11. Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.
Okuma H; Saito F; Mitsui J; Hara Y; Hatanaka Y; Ikeda M; Shimizu T; Matsumura K; Shimizu J; Tsuji S; Sonoo M
Neurol Genet; 2016 Feb; 2(1):e50. PubMed ID: 27066587
[TBL] [Abstract][Full Text] [Related]
12. Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.
Peche GA; Spiegelhalter C; Silva-Rojas R; Laporte J; Böhm J
Neuropathology; 2020 Dec; 40(6):559-569. PubMed ID: 33073872
[TBL] [Abstract][Full Text] [Related]
13. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
Endo Y; Noguchi S; Hara Y; Hayashi YK; Motomura K; Miyatake S; Murakami N; Tanaka S; Yamashita S; Kizu R; Bamba M; Goto Y; Matsumoto N; Nonaka I; Nishino I
Hum Mol Genet; 2015 Feb; 24(3):637-48. PubMed ID: 25227914
[TBL] [Abstract][Full Text] [Related]
14. Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.
Böhm J; Laporte J
Cell Calcium; 2018 Dec; 76():1-9. PubMed ID: 30243034
[TBL] [Abstract][Full Text] [Related]
15. Voluntary wheel running mitigates disease in an Orai1 gain-of-function mouse model of tubular aggregate myopathy.
O'Connor TN; Zhao N; Orciuoli HM; Brasile A; Pietrangelo L; He M; Groom L; Leigh J; Mahamed Z; Liang C; Malik S; Protasi F; Dirksen RT
bioRxiv; 2023 Sep; ():. PubMed ID: 37808709
[TBL] [Abstract][Full Text] [Related]
16. Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.
Silva-Rojas R; Charles AL; Djeddi S; Geny B; Laporte J; Böhm J
Cells; 2021 Jul; 10(7):. PubMed ID: 34359900
[TBL] [Abstract][Full Text] [Related]
17. Store-operated calcium entry: From physiology to tubular aggregate myopathy.
Protasi F; Girolami B; Roccabianca S; Rossi D
Curr Opin Pharmacol; 2023 Feb; 68():102347. PubMed ID: 36608411
[TBL] [Abstract][Full Text] [Related]
18. STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.
Silva-Rojas R; Treves S; Jacobs H; Kessler P; Messaddeq N; Laporte J; Böhm J
Hum Mol Genet; 2019 May; 28(10):1579-1593. PubMed ID: 30576443
[TBL] [Abstract][Full Text] [Related]
19. Silencing of the Ca
Silva-Rojas R; Pérez-Guàrdia L; Lafabrie E; Moulaert D; Laporte J; Böhm J
Int J Mol Sci; 2022 Jun; 23(13):. PubMed ID: 35805973
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
