Detalhe da pesquisa
1.
Nuclear positioning.
Cell
; 152(6): 1376-89, 2013 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-23498944
2.
Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in mice.
Proc Natl Acad Sci U S A
; 119(9)2022 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35197292
3.
Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.
Hum Mol Genet
; 29(24): 3919-3934, 2021 02 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33388782
4.
A lamin A/C variant causing striated muscle disease provides insights into filament organization.
J Cell Sci
; 134(6)2021 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-33536248
5.
Hepatocytes Deficient in Nuclear Envelope Protein Lamina-associated Polypeptide 1 are an Ideal Mammalian System to Study Intranuclear Lipid Droplets.
J Lipid Res
; 63(10): 100277, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36100089
6.
Imbalanced nucleocytoskeletal connections create common polarity defects in progeria and physiological aging.
Proc Natl Acad Sci U S A
; 116(9): 3578-3583, 2019 02 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30808750
7.
Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.
Hum Mol Genet
; 28(15): 2486-2500, 2019 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31009944
8.
Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival.
Hum Mol Genet
; 27(13): 2290-2305, 2018 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29668927
9.
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.
Hum Mol Genet
; 27(17): 3060-3078, 2018 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29878125
10.
Decreased WNT/ß-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene.
Hum Mol Genet
; 26(2): 333-343, 2017 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28069793
11.
Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth.
Hum Mol Genet
; 26(1): 65-78, 2017 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27798115
12.
Emery-Dreifuss muscular dystrophy: focal point nuclear envelope.
Curr Opin Neurol
; 32(5): 728-734, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31460960
13.
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene.
Hum Mol Genet
; 25(11): 2220-2233, 2016 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27131347
14.
A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.
J Cell Sci
; 129(10): 1975-80, 2016 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27034136
15.
Cell signaling abnormalities in cardiomyopathy caused by lamin A/C gene mutations.
Biochem Soc Trans
; 46(1): 37-42, 2018 02 19.
Artigo
Inglês
| MEDLINE | ID: mdl-29196611
16.
Extracellular matrix remodeling and transforming growth factor-ß signaling abnormalities induced by lamin A/C variants that cause lipodystrophy.
J Lipid Res
; 58(1): 151-163, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27845687
17.
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
Hum Mol Genet
; 24(8): 2163-74, 2015 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25552649
18.
Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids.
Hepatology
; 63(6): 1943-56, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26857093
19.
Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation.
Bioorg Med Chem
; 25(3): 1004-1013, 2017 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28011205
20.
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.
PLoS Genet
; 10(9): e1004605, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25210889