Detalhe da pesquisa
1.
Molecular basis of F-actin regulation and sarcomere assembly via myotilin.
PLoS Biol
; 19(4): e3001148, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33844684
2.
Filamin-A-interacting protein 1 (FILIP1) is a dual compartment protein linking myofibrils and microtubules during myogenic differentiation and upon mechanical stress.
Cell Tissue Res
; 393(1): 133-147, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178194
3.
Target formation in muscle fibres indicates reinnervation - A proteomic study in muscle samples from peripheral neuropathies.
Neuropathol Appl Neurobiol
; 49(1): e12853, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180966
4.
Maintaining proteostasis under mechanical stress.
EMBO Rep
; 22(8): e52507, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34309183
5.
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Mol Genet Metab
; 136(3): 226-237, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35660068
6.
Isoform-specific functions of synaptopodin-2 variants in cytoskeleton stabilization and autophagy regulation in muscle under mechanical stress.
Exp Cell Res
; 408(2): 112865, 2021 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34637763
7.
The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".
J Muscle Res Cell Motil
; 42(2): 381-397, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710525
8.
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.
Hum Mutat
; 41(9): 1600-1614, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516863
9.
Myofibrillar Z-discs Are a Protein Phosphorylation Hot Spot with Protein Kinase C (PKCα) Modulating Protein Dynamics.
Mol Cell Proteomics
; 16(3): 346-367, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28028127
10.
The cochaperone BAG3 coordinates protein synthesis and autophagy under mechanical strain through spatial regulation of mTORC1.
Biochim Biophys Acta Mol Cell Res
; 1864(1): 62-75, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27756573
11.
The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.
J Biol Chem
; 292(37): 15180-15191, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28717008
12.
Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.
Hum Mol Genet
; 25(13): 2776-2788, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27206985
13.
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Hum Mol Genet
; 24(25): 7207-20, 2015 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26472074
14.
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
Hum Mol Genet
; 24(13): 3638-50, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25801283
15.
Sarcomeric lesions and remodeling proximal to intercalated disks in overload-induced cardiac hypertrophy.
Exp Cell Res
; 348(1): 95-105, 2016 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27639425
16.
Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.
J Cell Sci
; 127(Pt 16): 3578-92, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24963132
17.
In vivo characterization of human myofibrillar myopathy genes in zebrafish.
Biochem Biophys Res Commun
; 461(2): 217-23, 2015 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25866181
18.
Angiotensin-II type 1 receptor-mediated Janus kinase 2 activation induces liver fibrosis.
Hepatology
; 60(1): 334-48, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24619965
19.
A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.
Mol Cell Proteomics
; 12(1): 215-27, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23115302
20.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Am J Hum Genet
; 88(6): 729-740, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21620354