Zhang H, Chang M, Chen D, Yang J, Zhang Y, Sun J
J Transl Med. 2024; 22(1):815.
PMID: 39223631
PMC: 11370226.
DOI: 10.1186/s12967-024-05626-5.
Christophers B, Leahy S, Soffar D, von Saucken V, Broadie K, Baylies M
Development. 2024; 151(13).
PMID: 38869008
PMC: 11266751.
DOI: 10.1242/dev.202558.
Galli R, Borsboom T, Gineste C, Brocca L, Rossi M, Hwee D
J Gen Physiol. 2024; 156(4).
PMID: 38376469
PMC: 10876480.
DOI: 10.1085/jgp.202313471.
Robaszkiewicz K, Wrobel J, Moraczewska J
Int J Mol Sci. 2023; 24(22).
PMID: 38003645
PMC: 10671271.
DOI: 10.3390/ijms242216457.
Dos Santos E, Rohan P, Binato R, Abdelhay E
Cancers (Basel). 2023; 15(22).
PMID: 38001634
PMC: 10670725.
DOI: 10.3390/cancers15225374.
Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center.
Haidong L, Yin L, Ping C, Xianzhao Z, Qi Q, Xiaoli M
Acta Neurol Belg. 2023; 124(1):91-99.
PMID: 37525074
PMC: 10874337.
DOI: 10.1007/s13760-023-02333-8.
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Christophers B, Lopez M, Gupta V, Vogel H, Baylies M
J Child Neurol. 2023; 37(7):652-663.
PMID: 36960434
PMC: 10032635.
DOI: 10.1177/08830738221096316.
NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.
Casey J, Kim E, Joseph R, Li F, Granzier H, Gupta V
Hum Mol Genet. 2023; 32(10):1711-1721.
PMID: 36661122
PMC: 10162428.
DOI: 10.1093/hmg/ddad011.
Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.
Glyakina A, Galzitskaya O
Biophys Rev. 2023; 14(6):1527-1538.
PMID: 36659996
PMC: 9842827.
DOI: 10.1007/s12551-022-01027-4.
New Insight into Muscle-Type Cofilin (CFL2) as an Essential Mediator in Promoting Myogenic Differentiation in Cattle.
Sun Y, Zhao T, Ma Y, Wu X, Mao Y, Yang Z
Bioengineering (Basel). 2022; 9(12).
PMID: 36550935
PMC: 9774386.
DOI: 10.3390/bioengineering9120729.
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J, Souza L, Yamamoto G, Belisario M, Lazar M, Campos W
Int J Mol Sci. 2022; 23(19).
PMID: 36233295
PMC: 9569467.
DOI: 10.3390/ijms231911995.
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D, Catallo M, Pierantozzi E, Sorrentino V
J Gen Physiol. 2022; 154(9).
PMID: 35980353
PMC: 9391951.
DOI: 10.1085/jgp.202213115.
The Mechanisms of Thin Filament Assembly and Length Regulation in Muscles.
Szikora S, Gorog P, Mihaly J
Int J Mol Sci. 2022; 23(10).
PMID: 35628117
PMC: 9140763.
DOI: 10.3390/ijms23105306.
Magic angle spinning NMR structure of human cofilin-2 assembled on actin filaments reveals isoform-specific conformation and binding mode.
Kraus J, Russell R, Kudryashova E, Xu C, Katyal N, Perilla J
Nat Commun. 2022; 13(1):2114.
PMID: 35440100
PMC: 9018683.
DOI: 10.1038/s41467-022-29595-9.
The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies.
Vignier N, Chatzifrangkeskou M, Pinton L, Wioland H, Marais T, Lemaitre M
Cell Rep. 2021; 36(8):109601.
PMID: 34433058
PMC: 8411111.
DOI: 10.1016/j.celrep.2021.109601.
Molecular and cellular basis of genetically inherited skeletal muscle disorders.
Dowling J, Weihl C, Spencer M
Nat Rev Mol Cell Biol. 2021; 22(11):713-732.
PMID: 34257452
PMC: 9686310.
DOI: 10.1038/s41580-021-00389-z.
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.
Laflamme N, Lace B, Setty S, Rioux N, Labrie Y, Droit A
Front Neurol. 2021; 12:660113.
PMID: 34211429
PMC: 8239344.
DOI: 10.3389/fneur.2021.660113.
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.
de Winter J, Gineste C, Minardi E, Brocca L, Rossi M, Borsboom T
Hum Mol Genet. 2021; 30(14):1305-1320.
PMID: 33909041
PMC: 8255131.
DOI: 10.1093/hmg/ddab112.
Altered Actin Dynamics in Cell Migration of GNE Mutant Cells.
Devi S, Yadav R, Arya R
Front Cell Dev Biol. 2021; 9:603742.
PMID: 33816461
PMC: 8012676.
DOI: 10.3389/fcell.2021.603742.
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
van de Locht M, Donkervoort S, de Winter J, Conijn S, Begthel L, Kusters B
J Clin Invest. 2021; 131(9).
PMID: 33755597
PMC: 8087209.
DOI: 10.1172/JCI145700.