208 related articles for article (PubMed ID: 30689900)
1. Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy.
Li F; Barton ER; Granzier H
Hum Mol Genet; 2019 May; 28(10):1709-1725. PubMed ID: 30689900
[TBL] [Abstract][Full Text] [Related]
2. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.
Li F; Buck D; De Winter J; Kolb J; Meng H; Birch C; Slater R; Escobar YN; Smith JE; Yang L; Konhilas J; Lawlor MW; Ottenheijm C; Granzier HL
Hum Mol Genet; 2015 Sep; 24(18):5219-33. PubMed ID: 26123491
[TBL] [Abstract][Full Text] [Related]
3. Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function.
Li F; Kolb J; Crudele J; Tonino P; Hourani Z; Smith JE; Chamberlain JS; Granzier H
Skelet Muscle; 2020 Jan; 10(1):2. PubMed ID: 31992366
[TBL] [Abstract][Full Text] [Related]
4. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
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
Brain; 2013 Jun; 136(Pt 6):1718-31. PubMed ID: 23715096
[TBL] [Abstract][Full Text] [Related]
5. Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
Ottenheijm CA; Witt CC; Stienen GJ; Labeit S; Beggs AH; Granzier H
Hum Mol Genet; 2009 Jul; 18(13):2359-69. PubMed ID: 19346529
[TBL] [Abstract][Full Text] [Related]
6. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Nguyen MA; Joya JE; Kee AJ; Domazetovska A; Yang N; Hook JW; Lemckert FA; Kettle E; Valova VA; Robinson PJ; North KN; Gunning PW; Mitchell CA; Hardeman EC
Brain; 2011 Dec; 134(Pt 12):3516-29. PubMed ID: 22067542
[TBL] [Abstract][Full Text] [Related]
7. The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.
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 PK; Lieber RL; Chen J; Bang ML
J Cell Sci; 2013 Dec; 126(Pt 23):5477-89. PubMed ID: 24046450
[TBL] [Abstract][Full Text] [Related]
8. Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
Sztal TE; Zhao M; Williams C; Oorschot V; Parslow AC; Giousoh A; Yuen M; Hall TE; Costin A; Ramm G; Bird PI; Busch-Nentwich EM; Stemple DL; Currie PD; Cooper ST; Laing NG; Nowak KJ; Bryson-Richardson RJ
Acta Neuropathol; 2015 Sep; 130(3):389-406. PubMed ID: 25931053
[TBL] [Abstract][Full Text] [Related]
9. Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle.
Kiss B; Lee EJ; Ma W; Li FW; Tonino P; Mijailovich SM; Irving TC; Granzier HL
Proc Natl Acad Sci U S A; 2018 Oct; 115(41):10369-10374. PubMed ID: 30249654
[TBL] [Abstract][Full Text] [Related]
10. Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.
Telfer WR; Nelson DD; Waugh T; Brooks SV; Dowling JJ
Dis Model Mech; 2012 May; 5(3):389-96. PubMed ID: 22159874
[TBL] [Abstract][Full Text] [Related]
11. Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy.
Joureau B; de Winter JM; Stam K; Granzier H; Ottenheijm CA
Neuromuscul Disord; 2017 Jan; 27(1):83-89. PubMed ID: 27890461
[TBL] [Abstract][Full Text] [Related]
12. Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.
Fabian L; Karimi E; Farman GP; Gohlke J; Ottenheijm CAC; Granzier HL; Dowling JJ
Hum Mol Genet; 2024 Jun; 33(12):1036-1054. PubMed ID: 38493359
[TBL] [Abstract][Full Text] [Related]
13. A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.
Corbett MA; Robinson CS; Dunglison GF; Yang N; Joya JE; Stewart AW; Schnell C; Gunning PW; North KN; Hardeman EC
Hum Mol Genet; 2001 Feb; 10(4):317-28. PubMed ID: 11157795
[TBL] [Abstract][Full Text] [Related]
14. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
de Winter JM; Buck D; Hidalgo C; Jasper JR; Malik FI; Clarke NF; Stienen GJ; Lawlor MW; Beggs AH; Ottenheijm CA; Granzier H
J Med Genet; 2013 Jun; 50(6):383-92. PubMed ID: 23572184
[TBL] [Abstract][Full Text] [Related]
15. The complete mouse nebulin gene sequence and the identification of cardiac nebulin.
Kazmierski ST; Antin PB; Witt CC; Huebner N; McElhinny AS; Labeit S; Gregorio CC
J Mol Biol; 2003 May; 328(4):835-46. PubMed ID: 12729758
[TBL] [Abstract][Full Text] [Related]
16. Sarcomere Dysfunction in Nemaline Myopathy.
de Winter JM; Ottenheijm CAC
J Neuromuscul Dis; 2017; 4(2):99-113. PubMed ID: 28436394
[TBL] [Abstract][Full Text] [Related]
17. Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.
Sztal TE; McKaige EA; Williams C; Oorschot V; Ramm G; Bryson-Richardson RJ
Acta Neuropathol Commun; 2018 May; 6(1):40. PubMed ID: 29848386
[TBL] [Abstract][Full Text] [Related]
18. In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype.
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
Neuromuscul Disord; 2013 Apr; 23(4):357-69. PubMed ID: 23375831
[TBL] [Abstract][Full Text] [Related]
19. Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo.
Witt CC; Burkart C; Labeit D; McNabb M; Wu Y; Granzier H; Labeit S
EMBO J; 2006 Aug; 25(16):3843-55. PubMed ID: 16902413
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Pelin K; Hilpelä P; Donner K; Sewry C; Akkari PA; Wilton SD; Wattanasirichaigoon D; Bang ML; Centner T; Hanefeld F; Odent S; Fardeau M; Urtizberea JA; Muntoni F; Dubowitz V; Beggs AH; Laing NG; Labeit S; de la Chapelle A; Wallgren-Pettersson C
Proc Natl Acad Sci U S A; 1999 Mar; 96(5):2305-10. PubMed ID: 10051637
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]