STAC3 disorder – Genetics Home Reference

James J. Latham

Campiglio M, Flucher BE. STAC3 stably interacts by its C1 domain with Ca(V)one.one in skeletal muscle mass triads. Sci Rep. 2017 Jan 237:41003. doi: 10.1038/srep41003. Campiglio M, Kaplan MM, Flucher BE. STAC3 incorporation into skeletal muscle mass triads occurs impartial of the dihydropyridine receptor. J Mobile Physiol. 2018 Dec233(12):9045-9051. doi: […]

  • Campiglio M, Flucher BE. STAC3 stably interacts by its C1 domain with Ca(V)one.one in skeletal muscle mass triads. Sci Rep. 2017 Jan 237:41003. doi: 10.1038/srep41003.

  • Campiglio M, Kaplan MM, Flucher BE. STAC3 incorporation into skeletal muscle mass triads occurs impartial of the dihydropyridine receptor. J Mobile Physiol. 2018 Dec233(12):9045-9051. doi: 10.1002/jcp.26767. Epub 2018 Aug 2.

  • Grzybowski M, Schänzer A, Pepler A, Heller C, Neubauer BA, Hahn A. Novel STAC3 Mutations in the To start with Non-Amerindian Affected person with Native American Myopathy. Neuropediatrics. 2017 Dec48(six):451-455. doi: 10.1055/s-0037-1601868. Epub 2017 Apr fifteen.

  • Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, Hirata H, Kuwada JY. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun. 20134:1952. doi: 10.1038/ncomms2952.

  • Linsley JW, Hsu IU, Groom L, Yarotskyy V, Lavorato M, Horstick EJ, Linsley D, Wang W, Franzini-Armstrong C, Dirksen RT, Kuwada JY. Congenital myopathy effects from misregulation of a muscle mass Ca2+ channel by mutant Stac3. Proc Natl Acad Sci U S A. 2017 Jan 10114(2):E228-E236. doi: 10.1073/pnas.1619238114. Epub 2016 Dec 21.

  • Polster A, Nelson BR, Olson EN, Beam KG. Stac3 has a direct position in skeletal muscle mass-style excitation-contraction coupling that is disrupted by a myopathy-producing mutation. Proc Natl Acad Sci U S A. 2016 Sep 27113(39):10986-91. doi: 10.1073/pnas.1612441113. Epub 2016 Sep 12.

  • Polster A, Perni S, Bichraoui H, Beam KG. Stac adaptor proteins regulate trafficking and functionality of muscle mass and neuronal L-style Ca2+ channels. Proc Natl Acad Sci U S A. 2015 Jan 13112(2):602-six. doi: 10.1073/pnas.1423113112. Epub 2014 Dec 29.

  • Webb BD, Manoli I, Jabs EW. STAC3 Dysfunction. 2019 Jun twenty. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Net]. Seattle (WA): College of Washington, Seattle 1993-2020. Readily available from http://www.ncbi.nlm.nih.gov/publications/NBK542808/

  • Zaharieva IT, Sarkozy A, Munot P, Manzur A, O’Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F. STAC3 variants bring about a congenital myopathy with distinct dysmorphic attributes and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

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