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Page 1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). ...
Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequen …
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM, Daly C, Aboelsaod EM, Gardner L, Hobson SJ, Riasat K, Shepherd S, Robinson RL, Bilmen JG, Gupta PK, Shaw MA, Hopkins PM. Miller DM, et al. Br J Anaesth. 2018 Oct;121(4):944-952. doi: 10.1016/j.bja.2018.06.028. Epub 2018 Aug 17. Br J Anaesth. 2018. PMID: 30236257 Free PMC article.
METHODS: We initially included one individual from each positive family tested in the UK MH Unit since 1971 to detect variants in RYR1, CACNA1S, or STAC3. Screening for genetic variants has been ongoing since 1991 and has involved a range of techniques, most recently next …
METHODS: We initially included one individual from each positive family tested in the UK MH Unit since 1971 to detect variants in RYR1, CACN …
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR. Ravenscroft G, et al. J Med Genet. 2021 Sep;58(9):609-618. doi: 10.1136/jmedgenet-2020-106901. Epub 2020 Oct 15. J Med Genet. 2021. PMID: 33060286 Free PMC article.
We identified phenotypic expansions associated with CACNA1S, CHRNB1, GMPPB and STAC3. We describe a total of 50 novel variants, including a novel missense variant in the recently identified gene for arthrogryposis with brain malformations-SMPD4. ...
We identified phenotypic expansions associated with CACNA1S, CHRNB1, GMPPB and STAC3. We describe a total of 50 novel variants, inclu …
STAC3 binding to CaV1.1 II-III loop is nonessential but critically supports skeletal muscle excitation-contraction coupling.
Tuinte WE, Török E, Tuluc P, Fattori F, D'Amico A, Campiglio M. Tuinte WE, et al. JCI Insight. 2025 Aug 8;10(15):e191053. doi: 10.1172/jci.insight.191053. eCollection 2025 Aug 8. JCI Insight. 2025. PMID: 40779452 Free PMC article.
Mutations in Stac3 cause STAC3 disorder, a congenital myopathy characterized by muscle weakness. STAC3 interacts with CaV1.1 in 2 key regions: the II-III loop and the proximal C-terminus. ...Supporting this finding, we identified a patient with STAC3 d …
Mutations in Stac3 cause STAC3 disorder, a congenital myopathy characterized by muscle weakness. STAC3 interacts with C …
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Grzybowski M, Schänzer A, Pepler A, Heller C, Neubauer BA, Hahn A. Grzybowski M, et al. Neuropediatrics. 2017 Dec;48(6):451-455. doi: 10.1055/s-0037-1601868. Epub 2017 Apr 15. Neuropediatrics. 2017. PMID: 28411587
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-c …
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor …
Skeletal muscle CaV1.1 channelopathies.
Flucher BE. Flucher BE. Pflugers Arch. 2020 Jul;472(7):739-754. doi: 10.1007/s00424-020-02368-3. Epub 2020 Mar 28. Pflugers Arch. 2020. PMID: 32222817 Free PMC article. Review.
In addition, the Ca(V)1.1 function in EC coupling is perturbed in Native American myopathy, arising from mutations in the Ca(V)1.1-associated protein STAC3. Here, we first address general considerations concerning the possible roles of Ca(V)1.1 in disease and then discuss …
In addition, the Ca(V)1.1 function in EC coupling is perturbed in Native American myopathy, arising from mutations in the Ca(V)1.1-associate …
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Sadhasivam S, Brandom BW, Henker RA, McAuliffe JJ. Sadhasivam S, et al. Pharmacogenomics. 2019 Sep;20(14):989-1003. doi: 10.2217/pgs-2019-0055. Pharmacogenomics. 2019. PMID: 31559918 Free PMC article.
Aim: Identify variants in RYR1, CACNA1S and STAC3, and predict malignant hyperthermia (MH) pathogenicity using Bayesian statistics in individuals clinically treated as MH susceptible (MHS). Materials & methods: Whole exome sequencing including RYR1, CACNA1S and STAC …
Aim: Identify variants in RYR1, CACNA1S and STAC3, and predict malignant hyperthermia (MH) pathogenicity using Bayesian statistics in …
Malignant Hyperthermia: A Killer If Ignored.
Bin X, Wang B, Tang Z. Bin X, et al. J Perianesth Nurs. 2022 Aug;37(4):435-444. doi: 10.1016/j.jopan.2021.08.018. Epub 2022 Apr 10. J Perianesth Nurs. 2022. PMID: 35414440 Free article.
It is an autosomal dominant disorder that generally occurs in people with RYR1, CACNA1S, or STAC3 mutations. And these genetic abnormalities often cause the imperfection of calcium release channels of skeletal muscle. ...
It is an autosomal dominant disorder that generally occurs in people with RYR1, CACNA1S, or STAC3 mutations. And these genetic abnorm …
Multiple Sequence Variants in STAC3 Affect Interactions with Ca(V)1.1 and Excitation-Contraction Coupling.
Rufenach B, Christy D, Flucher BE, Bui JM, Gsponer J, Campiglio M, Van Petegem F. Rufenach B, et al. Structure. 2020 Aug 4;28(8):922-932.e5. doi: 10.1016/j.str.2020.05.005. Epub 2020 Jun 2. Structure. 2020. PMID: 32492370 Free article.
Here, we report a crystal structure of the human STAC3 tandem SH3 domains. We analyzed the effect of five disease-associated variants, spread over both SH3 domains, on their ability to bind to the Ca(V)1.1 II-III loop and on muscle EC coupling. ...Our results …
Here, we report a crystal structure of the human STAC3 tandem SH3 domains. We analyzed the effect of five disease-associated v …
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
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. Zaharieva IT, et al. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Hum Mutat. 2018. PMID: 30168660
SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. ...This study demonstrates that …
SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excit …
28 results