STAC3 disorder – Genetics Home Reference

Robert S. Hays

  • Campiglio M, Flucher BE. STAC3 stably interacts by means of its C1 area with Ca(V)1.1 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 Very first Non-Amerindian Client 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 element 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 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 immediate part in skeletal muscle mass-kind excitation-contraction coupling that is disrupted by a myopathy-creating mutation. Proc Natl Acad Sci U S A. 2016 Sep 27113(39):10986-91. doi: ten.1073/pnas.1612441113. Epub 2016 Sep 12.

  • Polster A, Perni S, Bichraoui H, Beam KG. Stac adaptor proteins regulate trafficking and perform of muscle mass and neuronal L-kind 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® [World wide web]. Seattle (WA): University 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 induce a congenital myopathy with unique dysmorphic attributes and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec39(12):1980-1994. doi: ten.1002/humu.23635. Epub 2018 Oct eleven.

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