| 1 | EIEE5, SPTAN1
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| Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
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| Nonoda Y, Saito Y, Nagai S, Sasaki M, Iwasaki T, Matsumoto N, Ishii M, Saitsu H.
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| Brain Dev 35(3):280-3. doi: 10.1016/j.braindev.2012.05.002. Epub 2012 May 31.
2013
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| 2 | DEL9QO, ENG, SPTAN1, STXBP1, TOR1A
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| Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
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| Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F.
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| Genet Med 14(10):868-76. doi: 10.1038/gim.2012.65. Epub 2012 Jun 21.
2012
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| 3 | EIEE5, SPTAN1
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| Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
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| Hamdan FF, Saitsu H, Nishiyama K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL.
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| Eur J Hum Genet 20(7):796-800. doi: 10.1038/ejhg.2011.271. Epub 2012 Jan 18.
2012
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| 4 | EIEE5, SPTAN1, WSHQ
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| Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
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| Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N.
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| Am J Hum Genet 86(6):881-91. Epub 2010 May 20.PMID: 20493457 2010
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| 5 | FANCG, SPTAN1
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| The SH3 domain of alphaII spectrin is a target for the Fanconi anemia protein, FANCG.
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| Lefferts JA, Wang C, Sridharan D, Baralt M, Lambert MW.
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| Biochemistry 48(2):254-63.PMID: 19102630 2009
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| 6 | SPTAN1
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| AlphaII-spectrin is critical for cell adhesion and cell cycle.
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| Metral S, Machnicka B, Bigot S, Colin Y, Dhermy D, Lecomte MC.
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| J Biol Chem 284(4):2409-18. Epub 2008 Oct 31.PMID: 18978357 2009
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| 7 | SPTAN1
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| alphaII-Spectrin interacts with five groups of functionally important proteins in the nucleus.
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| Sridharan DM, McMahon LW, Lambert MW.
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| Cell Biol Int 30(11):866-78. Epub 2006 Jun 30.PMID: 16889989 2006
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| 8 | EVL, SPTAN1, TES
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| AlphaII-spectrin interacts with Tes and EVL, two actin-binding proteins located at cell contacts.
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| Rotter B, Bournier O, Nicolas G, Dhermy D, Lecomte MC.
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| Biochem J 388(Pt 2):631-8. 2005
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| 9 | CASP3, SPTAN1
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| Caspase-3 is required for alpha-fodrin cleavage but dispensable for cleavage of other death substrates in apoptosis.
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| Janicke RU, Ng P, Sprengart ML, Porter AG.
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| J Biol Chem 273(25):15540-5. 1998
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| 10 | SPTAN1
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| Identification of alpha-fodrin as a candidate autoantigen in primary Sjgren's syndrome.
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| Haneji N, et al.
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| Science 276 : 604-607. 1997
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| 11 | SPTAN1
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| Localization of the human a-fodrin gene (SPTAN1) to 9q33-q34 by fluorescence in situ hybridization.
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| Upender M, et al.
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| Cytogenet Cell Genet 66 : 39-41. 1994
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| 12 | SPTAN1
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| Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man.
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| Birkenmeier CS, et al.
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| Proc Natl Acad Sci U S A 85 : 8121-8125. 1988
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| 13 | SPTAN1
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| Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species.
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| Leto TL, et al.
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| Mol Cell Biol 8 : 1-9. 1988
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| 14 | SPTAN1
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| NEAS encoding a non-erythroid alpha-spectrin is on human chromosome 9, region q33-q34, and on mouse chromosome 2 .
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| Barton DE, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 578. 1987
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