Results 41 to 50 of about 2,390 (199)

Dialing Down SUN1 for Laminopathies [PDF]

Cell, 2012
Laminopathies, caused by mutations in A-type nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. In this issue, Chen et al. provide evidence that elevated expression of the nuclear inner membrane protein SUN1 drives pathology in multiple laminopathies.
Suh, Yousin, Kennedy, Brian K.
openaire   +2 more sources

Severe CMD with Novel Mutation in Lamin A/C Gene

Pediatric Neurology Briefs, 2010
Researchers at Queen Fabiola Children’s University Hospital, Brussels, Belgium, report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation.
J Gordon Millichap
doaj   +1 more source

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

Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T)

Stem Cell Research, 2021
Peripheral blood mononuclear cells (PBMCs) were harvested and reprogramed to induced pluripotent stem cells (iPSCs) from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation via a non-integrating system.
Yike Zhang, Yue Zhu, Yongping Lin, Hailei Liu, Hongwu Chen, Weizhu Ju, Chang Cui, Minglong Chen   +7 more
doaj   +1 more source

Mice with reduced expression of the telomere-associated protein Ft1 develop p53-sensitive progeroid traits [PDF]

, 2018
Human AKTIP and mouse Ft1 are orthologous ubiquitin E2 variant proteins involved in telomere maintenance and DNA replication. AKTIP also interacts with A- and B-type lamins.
Ana, Cumano, Bartolazzi, Armando, Bucciarelli, Elisabetta, Burla, Romina, Carcuro, Mariateresa, DEL GIUDICE, Simona, Gatti, Maurizio, Giulia, Piaggio, Ilaria, Virdia, Isabella, Manni, LA TORRE, Mattia, Merigliano, Chiara, Mottini, Carla, RAMPIONI VINCIGUERRA, GIAN LUCA, Riminucci, Mara, Saggio, Isabella, Silvia, Soddu, Verni', Fiammetta, Zanetti, Giorgia   +18 more
core   +1 more source

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

p53-sensitive epileptic behavior and inflammation in Ft1 hypomorphic mice [PDF]

, 2018
Epilepsy is a complex clinical condition characterized by repeated spontaneous seizures. Seizures have been linked to multiple drivers including DNA damage accumulation.
Alessandro, Vercelli, Alex Dimitri Bastianelli,, Burla, Romina, Del Giudice, Simona, Di Cunto, Ferdinando, La Torre, Mattia, Marina, Boido, Merigliano, Chiara, Saggio, Isabella, Verni', Fiammetta, Zanetti, Giorgia   +10 more
core   +2 more sources

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
openaire   +3 more sources

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