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A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.
Gamage TH, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch WE, Gunnes G, Pullisaar H, Reseland JE, Lyngstadaas SP, Holmgren A, Amundsen SS, Rathner P, Cerofolini L, Ravera E, Krobath H, Luchinat C, Renger T, Müller N, Romanin C, Frengen E. Gamage TH, et al. Among authors: holmgren a. Sci Signal. 2023 Feb 7;16(771):eadd0509. doi: 10.1126/scisignal.add0509. Epub 2023 Feb 7. Sci Signal. 2023. PMID: 36749824
A dominant STIM1 mutation causes Stormorken syndrome.
Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E. Misceo D, et al. Among authors: holmgren a. Hum Mutat. 2014 May;35(5):556-64. doi: 10.1002/humu.22544. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24619930
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P. Pedurupillay CR, et al. Among authors: holmgren a. Neuromuscul Disord. 2016 Sep;26(9):570-5. doi: 10.1016/j.nmd.2016.06.457. Epub 2016 Jun 22. Neuromuscul Disord. 2016. PMID: 27450922 Free article.
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.
Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ. Strømme P, et al. Among authors: holmgren a. Thyroid. 2018 Nov;28(11):1406-1415. doi: 10.1089/thy.2018.0595. Thyroid. 2018. PMID: 30296914
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice.
Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E. Gamage TH, et al. Among authors: holmgren a. Cell Calcium. 2018 Dec;76:87-100. doi: 10.1016/j.ceca.2018.10.001. Epub 2018 Oct 5. Cell Calcium. 2018. PMID: 30390422 Free PMC article.
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.
Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E. Gamage TH, et al. Among authors: holmgren a. Cell Calcium. 2020 Jan;85:102110. doi: 10.1016/j.ceca.2019.102110. Epub 2019 Nov 13. Cell Calcium. 2020. PMID: 31785581 Free article.
793 results