Lepet It Bistrot

Caring for Life

STAC3 disorder – Genetics Home Reference

  • Campiglio M, Flucher BE. STAC3 stably interacts via its C1 area 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 unbiased of the dihydropyridine receptor. J Cell Physiol. 2018 Dec233(12):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 To start with Non-Amerindian Client with Native American Myopathy. Neuropediatrics. 2017 Dec48(six):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 part of the excitation-contraction coupling equipment and mutated in Native 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 part in skeletal muscle mass-kind excitation-contraction coupling that is disrupted by a myopathy-causing mutation. Proc Natl Acad Sci U S A. 2016 Sep 27113(39):10986-ninety one. doi: ten.1073/pnas.1612441113. Epub 2016 Sep 12.

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

  • Webb BD, Manoli I, Jabs EW. STAC3 Disorder. 2019 Jun twenty. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [World wide web]. Seattle (WA): College of Washington, Seattle 1993-2020. Readily available from http://www.ncbi.nlm.nih.gov/guides/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 induce a congenital myopathy with exclusive dysmorphic functions and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec39(12):1980-1994. doi: ten.1002/humu.23635. Epub 2018 Oct 11.