Nonerythrocyte spectrins: actin-membrane attachment proteins occurring in many cell types - PubMed (original) (raw)
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
- Linking Alpha-Synuclein to the Actin Cytoskeleton: Consequences to Neuronal Function.
Oliveira da Silva MI, Liz MA. Oliveira da Silva MI, et al. Front Cell Dev Biol. 2020 Aug 12;8:787. doi: 10.3389/fcell.2020.00787. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32903460 Free PMC article. Review.
- Cargo hold and delivery: Ankyrins, spectrins, and their functional patterning of neurons.
Lorenzo DN. Lorenzo DN. Cytoskeleton (Hoboken). 2020 Mar;77(3-4):129-148. doi: 10.1002/cm.21602. Epub 2020 Feb 14. Cytoskeleton (Hoboken). 2020. PMID: 32034889 Free PMC article. Review.
- Actin-spectrin scaffold supports open fenestrae in liver sinusoidal endothelial cells.
Zapotoczny B, Braet F, Kus E, Ginda-Mäkelä K, Klejevskaja B, Campagna R, Chlopicki S, Szymonski M. Zapotoczny B, et al. Traffic. 2019 Dec;20(12):932-942. doi: 10.1111/tra.12700. Epub 2019 Oct 23. Traffic. 2019. PMID: 31569283 Free PMC article.
- The Spectrinome: The Interactome of a Scaffold Protein Creating Nuclear and Cytoplasmic Connectivity and Function.
Goodman SR, Johnson D, Youngentob SL, Kakhniashvili D. Goodman SR, et al. Exp Biol Med (Maywood). 2019 Nov;244(15):1273-1302. doi: 10.1177/1535370219867269. Epub 2019 Sep 4. Exp Biol Med (Maywood). 2019. PMID: 31483159 Free PMC article. Review.