| 1 | FBXO30, NEB
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| Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.
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| Li F, Buck D, De Winter J, Kolb J, Meng H, Birch C, Slater R, Escobar YN, Smith JE 3rd, Yang L, Konhilas J, Lawlor MW, Ottenheijm C, Granzier HL.
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| Hum Mol Genet 24(18):5219-33. doi: 10.1093/hmg/ddv243. Epub 2015 Jun 29.
2015
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| 2 | NEB, NEM2
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| Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
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| Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F.
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| Eur J Hum Genet 21(11):1249-52. doi: 10.1038/ejhg.2013.31. Epub 2013 Feb 27.
2013
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| 3 | NEB, NEM2
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| Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene.
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| Gajda A, Horváth E, Hortobágyi T, Gergev G, Szabó H, Farkas K, Nagy N, Széll M, Sztriha L.
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| J Child Neurol Child Neurol. 2013 Sep 20. [Epub ahead of print]
2013
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| 4 | NEB
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| The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.
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| Yamamoto DL, Vitiello C, Zhang J, Gokhin DS, Castaldi A, Coulis G, Piaser F, Filomena MC, Eggenhuizen PJ, Kunderfranco P, Camerini S, Takano K, Endo T, Crescenzi M, Luther P, Lieber RL, Chen J, Bang ML.
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| J Cell Sci Cell Sci. 2013 Sep 17. [Epub ahead of print]
2013
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| 5 | NEB
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| Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
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| Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H.
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| Brain 136(Pt 6):1718-31. doi: 10.1093/brain/awt113. Epub 2013 May 28.
2013
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| 6 | NEB
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| In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype.
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| Gineste C, De Winter JM, Kohl C, Witt CC, Giannesini B, Brohm K, Le Fur Y, Gretz N, Vilmen C, Pecchi E, Jubeau M, Cozzone PJ, Stienen GJ, Granzier H, Labeit S, Ottenheijm CA, Bendahan D, Gondin J.
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| Neuromuscul Disord 23(4):357-69. doi: 10.1016/j.nmd.2012.12.011. Epub 2013 Feb 1.
2013
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| 7 | NEB, NEBL, XIRP1, XIRP2
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| Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.
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| Eulitz S, Sauer F, Pelissier MC, Boisguerin P, Molt S, Schuld J, Orfanos Z, Kley RA, Volkmer R, Wilmanns M, Kirfel G, van der Ven PF, Fürst DO.
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| Mol Biol Cell 24(20):3215-26. doi: 10.1091/mbc.E13-04-0202. Epub 2013 Aug 28.
2013
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| 8 | DES, NEB
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| Nebulin binding impedes mutant desmin filament assembly.
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| Baker LK, Gillis DC, Sharma S, Ambrus A, Herrmann H, Conover GM.
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| Mol Biol Cell 24(12):1918-32. doi: 10.1091/mbc.E12-11-0840. Epub 2013 Apr 24.
2013
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| 9 | NEB
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| Expression of multiple nebulin isoforms in human skeletal muscle and brain.
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| Laitila J, Hanif M, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K.
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| Muscle Nerve 46(5):730-7. doi: 10.1002/mus.23380. Epub 2012 Aug 31.
2012
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| 10 | NEB
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| The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization.
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| Ottenheijm CA, Granzier H, Labeit S.
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| Front Physiol 3:37. doi: 10.3389/fphys.2012.00037. eCollection 2012.
2012
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| 11 | NEB, NEM2
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| Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
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| Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C.
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| Neuromuscul Disord 21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.
2011
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| 12 | DES, NEB
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| The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments.
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| Conover GM, Gregorio CC.
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| J Cell Sci 124(Pt 20):3464-76. doi: 10.1242/jcs.087080. Epub 2011 Oct 7.
2011
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| 13 | NEB, WASL
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| Nebulin and N-WASP cooperate to cause IGF-1-induced sarcomeric actin filament formation.
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| Takano K, Watanabe-Takano H, Suetsugu S, Kurita S, Tsujita K, Kimura S, Karatsu T, Takenawa T, Endo T.
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| Science 330(6010):1536-40.
2010
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| 14 | NEB, NEM2
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| The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
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| Lehtokari VL, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C.
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| Neuromuscul Disord 19(3):179-81. Epub 2009 Feb 15.
2009
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| 15 | NEB, NEM2
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| Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
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| Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H.
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| Hum Mol Genet 18(13):2359-69. Epub 2009 Apr 4.
2009
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| 16 | NEB, SVIL
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| Archvillin anchors in the Z-line of skeletal muscle via the nebulin C-terminus.
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| Lee MA, Joo YM, Lee YM, Kim HS, Kim JH, Choi JK, Ahn SJ, Min BI, Kim CR.
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| Biochem Biophys Res Commun 374(2):320-4. Epub 2008 Jul 17.
2008
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| 17 | NEB, NEM2
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| Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
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| Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C.
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| Hum Mutat 27(9):946-56. 2006
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| 18 | CTSS, NEB, NEM2
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| Cathepsin s promotes human preadipocyte differentiation: possible involvement of fibronectin degradation.
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| Taleb S, Cancello R, Clment K, Lacasa D.
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| Endocrinology 147(10):4950-9. Epub 2006 Jul 6. 2006
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| 19 | TTN, NEB, TRIM63, TRIM55, MYOT, TRIM54
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| MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination.
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| Witt SH, Granzier H, Witt CC, Labeit S.
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| J Mol Biol 350(4):713-22. 2005
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| 20 | NEM2, NEB
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| Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
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| Anderson SL, Ekstein J, Donnelly MC, Keefe EM, Toto NR, LeVoci LA, Rubin BY.
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| Hum Genet 115(3):185-90. Epub 2004 Jun 23. 2004
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| 21 | NEB
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| Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.
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| Donner K, Sandbacka M, Lehtokari VL, Wallgren-Pettersson C, Pelin K.
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| Eur J Hum Genet 12(9):744-51. 2004
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| 22 | NEB, NEM2
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| Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.
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| Gurgel-Giannetti J, Bang ML, Reed U, Marie S, Zatz M, Labeit S, Vainzof M.
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| Muscle Nerve 25(5):747-52. 2002
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| 23 | NEB, NEM2
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| Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
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| Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni F.
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| Neuromuscul Disord 11(2):146-53. 2001
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| 24 | NEB, NEM2
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| Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
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| Pelin K, et al.
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| Proc Natl Acad Sci U S A 96(5):2305-10. 1999
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| 25 | COL3A1, FRA2G, NEB
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| Assignment of the human nebulin gene (NEB) to chromosome band 2q24.2 and the alpha 1 (III) collagen gene (COL3A1) to chromosome band 2q32.2 by in situ hybridization; the FRA2G common fragile site lies between the two genes in the 2q31 band.
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| Limongi MZ, Pelliccia F, Rocchi A.
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| Cytogenet Cell Genet 77(3-4):259-60. 1997
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| 26 | NEB, TTN
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| Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.
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| Pelin K, Ridanpaa M, Donner K, Wilton S, Krishnarajah J, Laing N, Kolmerer B, Millevoi S, Labeit S, de la Chapelle A, Wallgren-Petterson C.
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| Eur J Hum Genet 5(4):229-34. 1997
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| 27 | NEB
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| Nebulin, a helical actin binding protein.
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| Pfuhl M, et al.
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| EMBO J 13 : 1782-1789. 1994
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| 28 | NEB
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| Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.
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| Stedman H, et al.
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| Genomics 2 : 1-7. 1988
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| 29 | NEB
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| Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32.
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| Zeviani M, et al.
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| Genomics 2 : 249-256. 1988
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| 30 | NEB
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| The human nebulin gene maps to chromosome 2q13-q33.
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| Darras BT, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 603. 1987
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