Results 61 to 70 of about 3,472 (172)

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, EarlyView.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia

Терапевтический архив, 2015
Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis
E L Sorkina, M F Kalashnikova, G A Melnichenko, A N Tyulpakov   +3 more
doaj  

Apigenin Protects Hypertensive Intracerebral Hemorrhage by Regulating Trx1 Through Binding to PRDX2

Phytotherapy Research, EarlyView.
ABSTRACT Intracerebral hemorrhage (ICH) remains the most severe stroke subtype with high mortality and disability rates. Although apigenin has shown cerebroprotective potential in preclinical studies, its mechanism of action, particularly in hypertensive ICH, remains poorly understood.
Hao‐chen Xu, Ming Liu, Ying‐ying Sun, Jie‐Dan Ping, Qing‐hua Cui, Jing‐zhou Chen, Hao Li   +6 more
wiley   +1 more source

Irisin levels in LMNA-associated partial lipodystrophies [PDF]

Diabetes & Metabolism, 2019
The adipo-myokine irisin regulates energy expenditure and fat metabolism. LMNA-associated familial partial lipodystrophy (FPLD2) comprises insulin resistance, muscle hypertrophy and lipoatrophy. The aim of this study was to investigate whether irisin could be a biomarker of FPLD2.This case control study included 19 FPLD2 subjects, 13 obese non-diabetic
Bensmaïne, F., Benomar, K., Espiard, S., Vahe, C., Le Mapihan, K., Lion, G., Lemdani, M., Chazard, E., Ernst, O., Vigouroux, C., Pigny, P., Vantyghem, M.-C.   +11 more
openaire   +3 more sources

Comparative Genomics and Functional Evidence for Convergent Adaptation to Hypoxia in Mammals

Integrative Zoology, EarlyView.
This study reveals convergent selection in mammals adapted to hypoxia. Functional assays demonstrate that amino acid mutations reduce oxidative stress, attenuate hypoxia‐induced injury, and modulate the hypoxia‐inducible transcription factor (HIF)‐driven hypoxic response.
Hao Dong, Chunxu Wang, Enqing Pei, Liang Zhao, Simin Chai, Ran Tian   +5 more
wiley   +1 more source

Evidence that proteasome-dependent degradation of the retinoblastoma protein in cells lacking A-type lamins occurs independently of gankyrin and MDM2. [PDF]

PLoS ONE, 2007
A-type lamins, predominantly lamins A and C, are nuclear intermediate filaments believed to act as scaffolds for assembly of transcription factors. Lamin A/C is necessary for the retinoblastoma protein (pRB) stabilization through unknown mechanism(s ...
Ryan T Nitta, Catherine L Smith, Brian K Kennedy   +2 more
doaj   +1 more source

Immunofluorescence confocal analysis of LMNA transfected HL-1 cells.

, 2015
Cells transfected with both LMNA WT and DUP are depicted. LMNA is visualized in green, Nuclear Pores in red, and colocalization in yellow in the merge panels. In the insets, a merged image of LMNA and Phalloidin-TRITC is shown. Planar XY projections were
Alessandra Rampazzo (38334), Arnaldo Scardapane (716949), Andrea Gerbino (716948), Maria Svelto (330761), Cristiano Simone (716950), Monica Carmosino (716944), Massimo Iacoviello (716947), Cinzia Forleo (716943), Sandro Sorrentino (716946), Nicoletta Resta (66121), Martina Calore (716951), Rosanna Valecce (716945), Silvia Torretta (716952), Giuseppe Procino (330755), Francesco Pisani (387328), Stefano Favale (716953)   +15 more
core   +1 more source

Dupuytren’s and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene

Cells, 2017
Dupuytren’s disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot.
Michael V. Zaragoza, Cecilia H. H. Nguyen, Halida P. Widyastuti, Linda A. McCarthy, Anna Grosberg   +4 more
doaj   +1 more source

Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy

Biochemistry and Biophysics Reports, 2020
Cardiomyopathy caused by A-type lamins gene (LMNA) mutations (LMNA cardiomyopathy) is associated with dysfunction of the heart, often leading to heart failure. LMNA cardiomyopathy is highly penetrant with bad prognosis with no specific therapy available.
Blanca Morales Rodriguez, Alejandro Domínguez-Rodríguez, Jean-Pierre Benitah, Florence Lefebvre, Thibaut Marais, Nathalie Mougenot, Philippe Beauverger, Gisèle Bonne, Véronique Briand, Ana-María Gómez, Antoine Muchir   +10 more
doaj   +1 more source

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole‐Exome Sequencing: Insights Into Early‐Onset and Syndromic Forms

Clinical Genetics, EarlyView.
Pediatric cardiomyopathies (CM) are a heterogeneous group of disorders. Their genetic basis remains poorly defined, particularly in children with early‐onset and apparently isolated forms. With a diagnostic yield of 62.7%, our findings suggest that whole‐exome sequencing could improve the diagnosis, genetic counseling, and clinical management of ...
Luana Giovannangeli, Elise Daire, Kahia Messaoudi, Didier Herent, Nathalie Desjeux, Emilie Lacot‐Leriche, Sarah Sauval, Sabine Dirani, Pascal De Groote, Didier Klug, Jean‐Benoit Baudelet, Alexandre Delarue, Olivia Domanski, Pierre‐Alexandre Fontanges, Jamal Ghoumid, Luisa Marsili, Alexis Hermida, Florence Jobic, Guillaume Jedraszak   +18 more
wiley   +1 more source