Results 81 to 90 of about 3,734 (156)

Prelamin A processing and heterochromatin dynamics in laminopathies

, 2007
Laminopathies belong to the group of diseases caused by mutations in genes encoding nuclear envelope proteins, referred to as nuclear envelopathies (Maraldi et al., 2005). Whilst disease-causing mutations in all other envelopathies involve EMD, LBR, MAN1,
S. Squarzoni, MARALDI, NADIR, M. Columbaro, MANZOLI, FRANCESCO ANTONIO, G. Lattanzi, C. Capanni, D. Camozzi, E. Mattioli   +7 more
core   +2 more sources

The Emerging Role of Lamin C as an Important LMNA Isoform in Mechanophenotype

Frontiers in Cell and Developmental Biology, 2018
Lamin A and lamin C isoforms of the gene LMNA are major structural and mechanotransductive components of the nuclear lamina. Previous reports have proposed lamin A as the isoform with the most dominant contributions to cellular mechanophenotype. Recently,
Rafael D. González-Cruz, Kris N. Dahl, Eric M. Darling, Eric M. Darling   +3 more
doaj   +1 more source

Reversal of laminopathies: the curious case of SUN1

, 2012
[[abstract]]Mutations in the LMNA gene are associated with a spectrum of human dystrophic diseases termed the "nuclear laminopathies." We recently found that the accumulation of the inner nuclear envelope proteins SUN1 is pathogenic in progeric and ...
Chi, YH;Chen, CY;Jeang, KT
core   +1 more source

Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies [PDF]

, 2019
Ankrd2 (ankyrin repeats containing domain 2) or Arpp (ankyrin repeat, PEST sequence, and proline-rich region) is a member of the muscle ankyrin repeat protein family. Ankrd2 is mostly expressed in skeletal muscle, where it plays an intriguing role in the
Faulkner, Georgine, Kojić, Snežana, Capanni, Cristina, Lattanzi, Giovanna, Cenni, Vittoria   +4 more
core   +1 more source

Embryonic Senescence and Laminopathies in a Progeroid Zebrafish Model [PDF]

, 2010
Background: Mutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies.
Koshimizu Eriko, Imamura, Shintaro, Jun-ichi Hanai, Koshimizu, Eriko, Valdez Jr., Delgado M., Shintaro Imamura, Hanai Jun-ichi, Delgado M Valdez, Eriko Koshimizu, Imamura Shintaro, Jie Qi, Toure Jamal, Hanai, Jun-ichi, Delgado M. Valdez, Kishi Shuji, Kishi, Shuji, Jamal Toure, Christopher E Carr, Toure, Jamal, Carr, Christopher E., Shuji Kishi, Valdez Delgado M., Qi Jie, Christopher E. Carr, Carr Christopher E., Qi, Jie   +25 more
core   +1 more source

Editorial: Is aberrant genome organization a cause or consequence of specific diseases?

Frontiers in Cell and Developmental Biology, 2023
Eric C. Schirmer, Joanna M. Bridger
doaj   +1 more source

Laminopathies : maladies rares, grands défis

Le 5e Congrès international des laminopathies s’est tenu du 21 au 23 mai 2025 sur le campus historique des Cordeliers de Sorbonne Université à Paris.
Antoine Muchir
core   +1 more source

Physiological and pathological ageing affects chromatin dynamics, structure and function at the nuclear edge

Frontiers in Genetics, 2016
Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes, LMNA, LMNB1 and LMNB2.
Jérôme D. Robin, Frederique Magdinier
doaj   +1 more source

Nuclear damages and oxidative stress: new perspectives for laminopathies [PDF]

, 2012
Mutations in genes encoding nuclear envelope proteins, particularly LMNA encoding the A-type lamins, cause a broad range of diverse diseases, referred to as laminopathies.
FACCHINI, ANDREA, MARALDI, NADIR, N.M. Maraldi, S. Marmiroli, MARMIROLI, Sandra, Lattanzi G., G. Lattanzi, Marmiroli S., A. Facchini, N. M. Maraldi   +9 more
core   +1 more source

Characterization and natural history of patients with LMNA‐related dilated cardiomyopathy in the phase 3 REALM‐DCM trial

ESC Heart Failure
Aims LMNA‐related dilated cardiomyopathy (DCM) is a rare disease with an incompletely defined phenotype. The phase 3 REALM‐DCM trial evaluated a potential disease‐modifying therapy for LMNA‐related DCM but was terminated due to futility without safety ...
Pablo Garcia‐Pavia, Neal K. Lakdawala, Gianfranco Sinagra, Tomas Ripoll‐Vera, Kia Afshar, Silvia G. Priori, James S. Ware, Anjali Owens, Huihua Li, Franca S. Angeli, Perry Elliott, Calum A. MacRae, Daniel P. Judge   +12 more
doaj   +1 more source