Results 51 to 60 of about 2,917 (255)

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
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Mouse models for understanding the molecular mechanism of bone disease in Hutchinson-Gilford progeria syndrome [PDF]

, 2011
Aging is a complex process affecting all people. Intense research is applied to elucidate the biological basis of aging and disease that develop with aging.
Schmidt, Eva
core   +1 more source

Nuclear lamins and laminopathies [PDF]

The Journal of Pathology, 2011
AbstractNuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina on the inner aspect of the inner nuclear membrane. Long known to be essential for maintaining nuclear structure and disassembling/reassembling during mitosis in metazoans, research over the past dozen years has shown that mutations in genes encoding ...
openaire   +2 more sources

Pushing the limit on laminopathies

Nature Materials, 2020
Mutations in lamins in skeletal muscle cells have been shown to reduce nuclear stability, increase nuclear envelope rupture, and induce DNA damage and cell death. New research shows that limiting mechanical loads can rescue myofibre function and viability.
Joel C, Eissenberg, Susana, Gonzalo
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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

In silico synchronization reveals regulators of nuclear ruptures in lamin A/C deficient model cells [PDF]

, 2016
The nuclear lamina is a critical regulator of nuclear structure and function. Nuclei from laminopathy patient cells experience repetitive disruptions of the nuclear envelope, causing transient intermingling of nuclear and cytoplasmic components.
Corne, Tobias, De Vos, Winnok, Molenberghs, F, Robijns, J, Sieprath, Tom, Verschuuren, M   +5 more
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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
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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

Hutchinson Gilford Progeria Syndrome: A Therapeutic Approach via Adenoviral Delivery of CRISPR/cas Genome Editing System [PDF]

, 2014
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare human genetic disease caused by mutations in the LMNA gene. LMNA codes for structural components of the nuclear lamina. Alterations of nuclear lamina lead to a very variable class of diseases known as
ARANCIO, Walter, Genovese, SI, GIORDANO, Carla, PIZZOLANTI, Giuseppe   +3 more
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Structure and stability of the lamin A tail domain and HGPS mutant [PDF]

, 2011
Hutchinson–Gilford progeria syndrome (HGPS) is a premature aging syndrome caused by the expression and accumulation of a mutant form of lamin A, Δ50 lamin A.
Buehler, Markus J, Dahl, Kris Noel, Kalinowski, Agnieszka, Qin, Zhao   +3 more
core   +1 more source