300 related articles for article (PubMed ID: 23332920)
1. 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]
2. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
Böhm J; Chevessier F; Koch C; Peche GA; Mora M; Morandi L; Pasanisi B; Moroni I; Tasca G; Fattori F; Ricci E; Pénisson-Besnier I; Nadaj-Pakleza A; Fardeau M; Joshi PR; Deschauer M; Romero NB; Eymard B; Laporte J
J Med Genet; 2014 Dec; 51(12):824-33. PubMed ID: 25326555
[TBL] [Abstract][Full Text] [Related]
3. 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.
Walter MC; Rossius M; Zitzelsberger M; Vorgerd M; Müller-Felber W; Ertl-Wagner B; Zhang Y; Brinkmeier H; Senderek J; Schoser B
Neuromuscul Disord; 2015 Jul; 25(7):577-84. PubMed ID: 25953320
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Lee JM; Noguchi S
Int J Mol Sci; 2016 Nov; 17(11):. PubMed ID: 27879676
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. The TAM-associated STIM1
Kim JH; Carreras-Sureda A; Didier M; Henry C; Frieden M; Demaurex N
Cell Calcium; 2022 Jul; 105():102615. PubMed ID: 35792400
[TBL] [Abstract][Full Text] [Related]
13. Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes.
Sallinger M; Tiffner A; Schmidt T; Bonhenry D; Waldherr L; Frischauf I; Lunz V; Derler I; Schober R; Schindl R
Int J Mol Sci; 2020 Jun; 21(12):. PubMed ID: 32575830
[TBL] [Abstract][Full Text] [Related]
14. Calcium entry units (CEUs): perspectives in skeletal muscle function and disease.
Protasi F; Pietrangelo L; Boncompagni S
J Muscle Res Cell Motil; 2021 Jun; 42(2):233-249. PubMed ID: 32812118
[TBL] [Abstract][Full Text] [Related]
15. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Nesin V; Wiley G; Kousi M; Ong EC; Lehmann T; Nicholl DJ; Suri M; Shahrizaila N; Katsanis N; Gaffney PM; Wierenga KJ; Tsiokas L
Proc Natl Acad Sci U S A; 2014 Mar; 111(11):4197-202. PubMed ID: 24591628
[TBL] [Abstract][Full Text] [Related]
16. Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G; Bruechle NO; Singh AR; Knopp C; Jedraszak G; Elbracht M; Brémond-Gignac D; Hartmann K; Sevestre H; Deutz P; Hérent D; Nürnberg P; Roméo B; Konrad K; Mathieu-Dramard M; Oldenburg J; Bourges-Petit E; Shen Y; Zerres K; Ouadid-Ahidouch H; Rochette J
Hum Mutat; 2014 Oct; 35(10):1221-32. PubMed ID: 25044882
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.
Cordero-Sanchez C; Riva B; Reano S; Clemente N; Zaggia I; Ruffinatti FA; Potenzieri A; Pirali T; Raffa S; Sangaletti S; Colombo MP; Bertoni A; Garibaldi M; Filigheddu N; Genazzani AA
Dis Model Mech; 2019 Dec; 13(2):. PubMed ID: 31666234
[TBL] [Abstract][Full Text] [Related]
19. [Tubular aggregate myopathy and Stormorken syndrome].
Böhm J; Laporte J
Med Sci (Paris); 2018 Nov; 34 Hors série n°2():26-31. PubMed ID: 30418142
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
