Results 41 to 50 of about 18,190 (215)

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B

Nucleus, 2023
Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA.
Kamsi O. Odinammadu, Khurts Shilagardi, Kelsey Tuminelli, Daniel P. Judge, Leslie B. Gordon, Susan Michaelis   +5 more
doaj   +1 more source

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations [PDF]

Human Mutation, 2011
Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we describe novel and recurrent LMNA mutations identified in 50 patients from the United States and Canada,
Scharner, Juergen, Brown, Charlotte A., Bower, Matthew, Iannaccone, Susan T., Khatri, Ismail A., Escolar, Diana, Gordon, Erynn, Felice, Kevin, Crowe, Carol A., Grosmann, Carla, Meriggioli, Matthew N., Asamoah, Alexander, Gordon, Ora, Gnocchi, Viola F., Ellis, Juliet A., Mendell, Jerry R., Zammit, Peter S.   +16 more
openaire   +3 more sources

Dilated cardiomyopathy: reconceptualization of the problem

Российский кардиологический журнал, 2019
Dilated cardiomyopathy (DCM) is a complex, etiologically heterogeneous myocardial disease, which is one of the main causes of heart failure and heart transplantation.
T. G. Vaykhanskaya, L. N. Sivitskaya, T. V. Kurushko, O. D. Levdansky, N. G. Danilenko   +4 more
doaj   +1 more source

Identification of novel RNA isoforms of LMNA [PDF]

Nucleus, 2017
The nuclear lamina is a proteinaceous meshwork situated underneath the inner nuclear membrane and is composed of nuclear lamin proteins, which are type-V intermediate filaments. The LMNA gene gives rise to lamin A and lamin C through alternative splicing.
Emily DeBoy, Madaiah Puttaraju, Parthav Jailwala, Manjula Kasoji, Maggie Cam, Tom Misteli   +5 more
openaire   +2 more sources

Serum lipidomics meets cardiac magnetic resonance imaging: profiling of subjects at risk of dilated cardiomyopathy. [PDF]

PLoS ONE, 2011
Dilated cardiomyopathy (DCM), characterized by left ventricular dilatation and systolic dysfunction, constitutes a significant cause for heart failure, sudden cardiac death or need for heart transplantation.
Marko Sysi-Aho, Juha Koikkalainen, Tuulikki Seppänen-Laakso, Maija Kaartinen, Johanna Kuusisto, Keijo Peuhkurinen, Satu Kärkkäinen, Margareta Antila, Kirsi Lauerma, Eeva Reissell, Raija Jurkko, Jyrki Lötjönen, Tiina Heliö, Matej Orešič   +13 more
doaj   +1 more source

Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real-Life Experience From a National Reference Network. [PDF]

Diabetes Obes Metab
ABSTRACT Aim Lipodystrophy syndromes are rare diseases with metabolic and cardiovascular consequences. This study explores the metabolic and renal effects of sodium‐glucose cotransporter 2 inhibitors (SGLT2i) in patients with genetic lipodystrophy. Patients and Methods Patients with familial partial lipodystrophy (n = 57) or congenital generalised ...
Robert L, Belalem I, Vigouroux C, Dupuis H, Vantyghem MC, Simonson M, Nobecourt E, Mosbah H, Beliard S, Jellimann S, Janmaat S, Vatier C, Lamothe S.   +12 more
europepmc   +2 more sources

Mapping the contact surfaces in the Lamin A:AIMP3 complex by hydrogen/deuterium exchange FT-ICR mass spectrometry.

PLoS ONE, 2017
Aminoacyl-tRNA synthetases-interacting multifunctional protein3 (AIMP3/p18) is involved in the macromolecular tRNA synthetase complex via its interaction with several aminoacyl-tRNA synthetases.
Yeqing Tao, Pengfei Fang, Sunghoon Kim, Min Guo, Nicolas L Young, Alan G Marshall   +5 more
doaj   +1 more source

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient

Frontiers in Cardiovascular Medicine, 2022
Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestations of
Kseniya Perepelina, Kseniya Perepelina, Anastasia Zaytseva, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Malashicheva, Anna Kostareva, Anna Kostareva   +10 more
doaj   +1 more source

Personalized Medicine Approach in a DCM Patient with LMNA Mutation Reveals Dysregulation of mTOR Signaling

, 2022
Background: Mutations in the Lamin A/C (LMNA) gene are responsible for about 6% of all familial dilated cardiomyopathy (DCM) cases which tend to present at a young age and follow a fulminant course.
Neupane, B., Marks, Matthias, Marx, Nikolaus, Balram Neupane, Aidery, Parwez, Matthias Marks, Vytautas Kucikas, Marc A. M. J. van Zandvoort, Nikolaus Marx, Klingel, K., Gründer, Stefan, Grunder, S., Ortega-Ramirez, Audrey Magdalena, van Zandvoort, Marc A. M. J., Klaus K. Witte, Karin Klingel, Ortega-Ramirez, A.M., Gramlich, Michael, Witte, K.K., Marx, N., Pradhan, K., Aidery, P., Klingel, Karin, Pradhan, Kabita, Parwez Aidery, Stefan Gründer, Gramlich, M., Audrey Magdalena Ortega-Ramirez, Kabita Pradhan, Kucikas, V., Kucikas, Vytautas, Michael Gramlich, Marks, M., Neupane, Balram, van Zandvoort, M.A.M.J., Witte, Klaus K.   +35 more
core   +1 more source

LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Архивъ внутренней медицины
Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik, A. A. Kovaleva, M. Kh. Shurdumova, D. E. Emelyanovich, A. P. Smirnov, V. Y. Voinova   +5 more
doaj   +1 more source