Results 51 to 60 of about 1,743 (194)

Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients

Cells, 2019
Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an integral membrane protein associated with inner and outer nuclear membranes.
Magda Dubińska-Magiera, Katarzyna Kozioł, Magdalena Machowska, Katarzyna Piekarowicz, Daria Filipczak, Ryszard Rzepecki   +5 more
doaj   +1 more source

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

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

PRIMARY (GENETICALLY DETERMINED) DILATION CARDIOMYOPATHY IN A PATIENT WITH NOVEL MUTATION OF LAMIN GENE: CLINICAL AND MORPHOLOGICAL MANAGEMENT

Кардиоваскулярная терапия и профилактика, 2017
The primary diagnosis of “dilation cardiomyopathy” is syndromal, and demands clarification of nosological origins. In the article, the specifics of such diagnostics is discussed.
O. V. Blagova, I. N. Alieva, A. V. Nedostup, V. A. Sulimov, E. A. Kogan, A. G. Shestak, D. A. Zateyshchikov, E. V. Zaklyazminskaya   +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

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

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. Truncation in lamin A causes Hutchinson-Gilford progerial
Huang, JD, Guan, X, Zhou, Z, Cao, Y, LópezOtín, C, Cheah, KSE, Pendas, AM, Tryggvason, K, Wang, J, Cadiñanos, J, Chen, J, Chau, PY, Tse, HF, Hutchison, C, Chan, KM, Tjia, WM, Deng, W, Chen, DJ, Liu, B, Li, KM, Pei, D   +20 more
core   +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

The involvement of thioredoxin-1 in neuronal laminopathy in neurodegeneration [PDF]

, 2023
Introduction: Progressive loss of neurons is a common cause in pathophysiology of neurodegenerative diseases (ND), although the underlying mechanisms responsible for cell death remains controversial.
Sultana, Shakila
core  

Current Topics of Progressive Cardiac Conduction Disease. [PDF]

J Arrhythm
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Sumitomo N, Mori H, Kumamoto T, Ishikawa T, Seki A, Makita N, Schott JJ, Wilde AAM.   +7 more
europepmc   +2 more sources