STAC3 disorder – Genetics Home Reference

By Julie R. Ball 4 years ago

  • Campiglio M, Flucher BE. STAC3 stably interacts via its C1 domain with Ca(V)one.one in skeletal muscle mass triads. Sci Rep. 2017 Jan 237:41003. doi: ten.1038/srep41003.

  • Campiglio M, Kaplan MM, Flucher BE. STAC3 incorporation into skeletal muscle mass triads happens independent of the dihydropyridine receptor. J Mobile Physiol. 2018 Dec233(twelve):9045-9051. doi: ten.1002/jcp.26767. Epub 2018 Aug two.

  • Grzybowski M, Schänzer A, Pepler A, Heller C, Neubauer BA, Hahn A. Novel STAC3 Mutations in the First Non-Amerindian Patient with Indigenous American Myopathy. Neuropediatrics. 2017 Dec48(6):451-455. doi: ten.1055/s-0037-1601868. Epub 2017 Apr 15.

  • 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 Indigenous American myopathy. Nat Commun. 20134:1952. doi: ten.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 final results from misregulation of a muscle mass Ca2+ channel by mutant Stac3. Proc Natl Acad Sci U S A. 2017 Jan 10114(two):E228-E236. doi: ten.1073/pnas.1619238114. Epub 2016 Dec 21.

  • Polster A, Nelson BR, Olson EN, Beam KG. Stac3 has a direct function in skeletal muscle mass-sort excitation-contraction coupling that is disrupted by a myopathy-creating mutation. Proc Natl Acad Sci U S A. 2016 Sep 27113(39):10986-ninety one. doi: ten.1073/pnas.1612441113. Epub 2016 Sep twelve.

  • Polster A, Perni S, Bichraoui H, Beam KG. Stac adaptor proteins control trafficking and operate of muscle mass and neuronal L-sort Ca2+ channels. Proc Natl Acad Sci U S A. 2015 Jan 13112(two):602-6. doi: ten.1073/pnas.1423113112. Epub 2014 Dec 29.

  • Webb BD, Manoli I, Jabs EW. STAC3 Dysfunction. 2019 Jun 20. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Web]. Seattle (WA): University of Washington, Seattle 1993-2020. Obtainable 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 cause a congenital myopathy with distinctive dysmorphic options and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec39(twelve):1980-1994. doi: ten.1002/humu.23635. Epub 2018 Oct 11.

    • Tags: , , , ,