Results 41 to 50 of about 473 (164)

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision

Frontiers in Pediatrics, 2020
Lamin A/C (LMNA) encodes for two nuclear intermediate filament proteins. Mutations in LMNA cause a highly heterogeneous group of diseases predominantly leading to muscular or cardiac disease, lipodystrophy syndromes, peripheral neuropathy, and ...
Anwar Baban, Marianna Cicenia, Monia Magliozzi, Maria Gnazzo, Nicoletta Cantarutti, Massimo Stefano Silvetti, Rachele Adorisio, Bruno Dallapiccola, Enrico Bertini, Antonio Novelli, Fabrizio Drago   +10 more
doaj   +1 more source

Pervasive nuclear envelope ruptures precede ECM signaling and disease onset without activating cGAS-STING in Lamin-cardiomyopathy mice

Cell Reports
Summary: Nuclear envelope (NE) ruptures are emerging observations in Lamin-related dilated cardiomyopathy, an adult-onset disease caused by loss-of-function mutations in Lamin A/C, a nuclear lamina component. Here, we test a prevailing hypothesis that NE
Atsuki En, Hanumakumar Bogireddi, Briana Thomas, Alexis V. Stutzman, Sachie Ikegami, Brigitte LaForest, Omar Almakki, Peter Pytel, Ivan P. Moskowitz, Kohta Ikegami   +9 more
doaj   +1 more source

Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy

, 2021
International audienceLMNA mutations in patients are responsible for a dilated cardiomyopathy. Molecular mechanisms underlying the origin and development of the pathology are unknown.
Vignier, Nicolas, Leschik, Julia, Watrin, Erwan, Bonne, Gisèle, Jebeniani, Imen, Puceat, Michel, Guenantin, Anne-Claire   +6 more
core   +1 more source

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Cells, 2016
ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD).
Damien Galant, Bénédicte Gaborit, Camille Desgrouas, Ines Abdesselam, Monique Bernard, Nicolas Levy, Françoise Merono, Catherine Coirault, Patrice Roll, Arnaud Lagarde, Nathalie Bonello-Palot, Patrice Bourgeois, Anne Dutour, Catherine Badens   +13 more
doaj   +1 more source

Profiling Co‐Occurrent Morphological Phenotypes and Their Degree of Expression Severity in Vacuolated Cells by Holo‐Tomographic Flow Cytometry and Fractal Analysis

Advanced Intelligent Systems, EarlyView.
HTFC gets 3D refractive index tomograms of flowing cells. Label‐free monocytes are engineered to express patterns of cytoplasmic vacuoles. From the tomogram, an efficient dimensionality reduction is operated. Interpretable features are extracted to classify the expression severity of phenotypes coexisting in each cell, visually represented by a seven ...
Marika Valentino, Giusy Giugliano, Daniele Pirone, Fabrizio Licitra, Fulvia Vitale, Pasquale Memmolo, Lisa Miccio, Massimo D’Agostino, Pietro Ferraro, Vittorio Bianco   +9 more
wiley   +1 more source

Mouse models of laminopathies

Aging Cell, 2012
AbstractThe A‐ and B‐type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease‐causing mutations, termed ‘laminopathies,’ have been mapped throughout LMNA, the gene for A‐type ...
Haoyue, Zhang, Julia E, Kieckhaefer, Kan, Cao   +2 more
openaire   +2 more sources

Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]

Journal of Kerman University of Medical Sciences, 2005
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj  

Dateset related to article "Cytokines as potential biomarkers of disease clinical course in muscular dystrophies "

, 2021
This database includes a comprehensive profile of circulating pro- and anti-inflammatory molecules (cytokines, chemokines and growth factors) obtained from a group of 53 patients with muscular laminopathy, 10 with non-muscular laminopathy, 22 with other ...
Lattanzi, Giovanna, Cappelletti, Cristina, Maggi, Lorenzo   +2 more
core   +1 more source

Nuclear Entanglement: New Insights Into the Role of Cytoskeleton and Nucleoskeleton in Plant Nuclear Function

Cytoskeleton, EarlyView.
ABSTRACT Of the three types of cytoskeleton known in animals—actin, microtubules, and intermediate filaments—only actin and microtubules exist in plants. Both play important roles in cellular shaping, organelle movement, organization of the endomembrane system, and cell signaling.
Norman R. Groves, Katelyn Amstutz, Lily A. Schumacher, Iris Meier   +3 more
wiley   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source