Results 41 to 50 of about 1,703 (200)

Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy [PDF]

, 2005
Restrictive dermopathy (RD) is a lethal human genetic disorder characterized by very tight, thin, easily eroded skin, rocker bottom feet, and joint contractures.
Gardner, Jennifer M., Moulson, Casey L., Miner, Jeffrey H., Sillevis Smitt, J. Henk, Go, Gloriosa, Henk Sillevis Smitt, J., van Hagen, Johanna M., van der Wal, Allard C.   +7 more
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

Thematic Review Series: Lipid Posttranslational Modifications. Prelamin A, Zmpste24, misshapen cell nuclei, and progeria—new evidence suggesting that protein farnesylation could be important for disease pathogenesis

Journal of Lipid Research, 2005
Prelamin A undergoes multistep processing to yield lamin A, a structural protein of the nuclear lamina. Prelamin A terminates with a CAAX motif, which triggers farnesylation of a C-terminal cysteine (the C of the CAAX motif), endoproteolytic release of ...
Stephen G. Young, Loren G. Fong, Susan Michaelis   +2 more
doaj   +1 more source

Structural and Mechanical Aberrations of the Nuclear Lamina in Disease

Cells, 2020
The nuclear lamins are the major components of the nuclear lamina in the nuclear envelope. Lamins are involved in numerous functions, including a role in providing structural support to the cell and the mechanosensing of the cell.
Merel Stiekema, Marc A. M. J. van Zandvoort, Frans C. S. Ramaekers, Jos L. V. Broers   +3 more
doaj   +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

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

Soft substrates normalize nuclear morphology and prevent nuclear rupture in fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations [PDF]

, 2013
Laminopathies, mainly caused by mutations in the LMNA gene, are a group of inherited diseases with a highly variable penetrance; i.e., the disease spectrum in persons with identical LMNA mutations range from symptom-free conditions to severe ...
Wijngaard, A van den, Baaijens, FPT Frank, Broers, JLV Jos, Bouten, C.V.C., Verstraeten, VLRM Valerie, Verstraeten, V.L.R.M., Tamiello, C Chiara, Bouten, CVC Carlijn, Baaijens, F.P.T., Tamiello, C., Kamps, Miriam A F Miriam, Bouten, C.V.C.; id_orcid, Wijngaard, van den, A., Broers, J.L.V., Kamps, M.A.   +14 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
openaire   +2 more sources

Genomic Instability in Laminopathy-based Premature Aging

, 2005
Premature aging syndromes often result from mutations in nuclear proteins involved in the maintenance of genomic integrity. LAMIN A is a major component of the nuclear lamina and nuclear skeleton.
Zhou, Z
core   +2 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