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Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.
Masuho I, Fang M, Geng C, Zhang J, Jiang H, Özgul RK, Yılmaz DY, Yalnızoğlu D, Yüksel D, Yarrow A, Myers A, Burn SC, Crotwell PL, Padilla-Lopez S, Dursun A, Martemyanov KA, Kruer MC. Masuho I, et al. Among authors: martemyanov ka. Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27222887 Free PMC article. No abstract available.
A neurodevelopmental disorder mutation locks G proteins in the transitory pre-activated state.
Knight KM, Krumm BE, Kapolka NJ, Ludlam WG, Cui M, Mani S, Prytkova I, Obarow EG, Lefevre TJ, Wei W, Ma N, Huang XP, Fay JF, Vaidehi N, Smrcka AV, Slesinger PA, Logothetis DE, Martemyanov KA, Roth BL, Dohlman HG. Knight KM, et al. Among authors: martemyanov ka. Nat Commun. 2024 Aug 5;15(1):6643. doi: 10.1038/s41467-024-50964-z. Nat Commun. 2024. PMID: 39103320 Free PMC article.
Structure of the photoreceptor synaptic assembly of the extracellular matrix protein pikachurin with the orphan receptor GPR179.
Patil DN, Pantalone S, Cao Y, Laboute T, Novick SJ, Singh S, Savino S, Faravelli S, Magnani F, Griffin PR, Singh AK, Forneris F, Martemyanov KA. Patil DN, et al. Among authors: martemyanov ka. Sci Signal. 2023 Jul 25;16(795):eadd9539. doi: 10.1126/scisignal.add9539. Epub 2023 Jul 25. Sci Signal. 2023. PMID: 37490546 Free PMC article.
Mutations in GNAL cause primary torsion dystonia.
Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, Lang AE, Liang TW, Trosch RM, White S, Ainehsazan E, Hervé D, Sharma N, Ehrlich ME, Martemyanov KA, Bressman SB, Ozelius LJ. Fuchs T, et al. Among authors: martemyanov ka. Nat Genet. 2013 Jan;45(1):88-92. doi: 10.1038/ng.2496. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222958 Free PMC article.
Mutations in GNAL: a novel cause of craniocervical dystonia.
Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A. Kumar KR, et al. Among authors: martemyanov ka. JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677. JAMA Neurol. 2014. PMID: 24535567 Free PMC article.
167 results