Sweat retention anhidrosis associated with tubular aggregate myopathy.
Ishitsuka Y, Inoue S, Furuta J, Koguchi-Yoshioka H, Nakamura Y, Watanabe R, Okiyama N, Fujisawa Y, Enokizono T, Fukushima H, Suzuki H, Nishino I, Kosaki K, Fujimoto M.
Br J Dermatol. 2019 Nov;181(5):1104-1106. doi: 10.1111/bjd.18175. Epub 2019 Aug 21.
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
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Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Lee JM, Noguchi S.
Int J Mol Sci. 2016 Nov 22;17(11):1952. doi: 10.3390/ijms17111952.
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Vattemi GNA, Rossi D, Galli L, Catallo MR, Pancheri E, Marchetto G, Cisterna B, Malatesta M, Pierantozzi E, Tonin P, Sorrentino V.
Eur J Neurosci. 2022 Aug;56(3):4214-4223. doi: 10.1111/ejn.15728. Epub 2022 Jun 13.
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.
Tasca G, D'Amico A, Monforte M, Nadaj-Pakleza A, Vialle M, Fattori F, Vissing J, Ricci E, Bertini E.
Neuromuscul Disord. 2015 Nov;25(11):898-903. doi: 10.1016/j.nmd.2015.07.008. Epub 2015 Jul 17.
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. doi: 10.1002/humu.23172. Epub 2017 Feb 2.
An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.
Zhao N, Michelucci A, Pietrangelo L, Malik S, Groom L, Leigh J, O'Connor TN, Takano T, Kingsley PD, Palis J, Boncompagni S, Protasi F, Dirksen RT.
EMBO J. 2024 Dec;43(23):5941-5971. doi: 10.1038/s44318-024-00273-4. Epub 2024 Oct 17.
Brown Adipose Tissue Controls Skeletal Muscle Function via the Secretion of Myostatin.
Kong X, Yao T, Zhou P, Kazak L, Tenen D, Lyubetskaya A, Dawes BA, Tsai L, Kahn BB, Spiegelman BM, Liu T, Rosen ED.
Cell Metab. 2018 Oct 2;28(4):631-643.e3. doi: 10.1016/j.cmet.2018.07.004. Epub 2018 Aug 2.
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. doi: 10.1016/j.coph.2022.102347. Epub 2023 Jan 4.
Tubular aggregate myopathy mutant unveils novel activation and inactivation mechanisms of Orai1.
Derler I, Romanin C.
Cell Calcium. 2023 Jun;112:102739. doi: 10.1016/j.ceca.2023.102739. Epub 2023 Apr 7.
