Results 111 to 120 of about 9,766,746 (345)

A unified model for Duchenne muscular dystrophy gene involvement in cancer: context‐dependent tumour suppression and oncogenicity

FEBS Open Bio, EarlyView.
We propose a context‐dependent model where the Duchenne muscular dystrophy (DMD) gene acts as a tumour suppressor in aggressive tumours and as an oncogene in less aggressive ones. We propose this model as a unified framework to explain the opposing survival associations with DMD expression and to guide experimental exploration of the dual role of DMD ...
Lee Machado, Leanne Jones, Sonika Divakar, Michael Naidoo, Karen Anthony   +4 more
wiley   +1 more source

Newborn screening in mucopolysaccharidoses

Italian Journal of Pediatrics, 2018
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome.
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina   +4 more
doaj   +1 more source

Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]

, 2012
BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Lin, Shuo, Meinen, Sarina, Ruegg, Markus A.   +2 more
core   +1 more source

Identification of amino acids essential for angulin‐1/3 binding of the tricellular tight junction binder, angubindin‐1

FEBS Open Bio, EarlyView.
Angubindin‐1 binds angulin‐1/‐3 at tricellular tight junctions, enhancing intestinal macromolecule permeation. Alanine scanning identified six essential residues (L562, L598, E638, V640, Y643, and K644) of angubindin‐1 critical for binding to angulin‐1/‐3 and permeation‐enhancing activity, providing insights for the development of targeted noninvasive ...
Taiki Kuzu, Yumi Iwashita, Keisuke Tachibana, Itsuki Nishino, Yuki Niwa, Atsuko Uyeda, Kazuki Matsuo, Masahiro Nagahama, Masuo Kondoh   +8 more
wiley   +1 more source

[Neuropathology I: muscular diseases]. [PDF]

Pathologie (Heidelb), 2023
Schänzer A, Dittmayer C, Porubsky S, Weis J, Goebel HH, Stenzel W.   +5 more
europepmc   +1 more source

Electrical pulse stimulation reflecting the episodic nature of real‐life exercise modulates metabolic and secretory profile of primary human myotubes

FEBS Open Bio, EarlyView.
Here, we introduced an intermittent electrical stimulation protocol mimicking the episodic nature of real‐life exercise in vitro by alternating low‐ and high‐frequency stimulation. In comparison with widely used continuous stimulation, it enhanced the rate of glucose and fatty acid oxidation, but not the myokine release.
Klára Gabrišová, Tímea Kurdiová, Daria Barkova, Natália Pálešová, Jana Babulicová, Silvia Tyčiaková, Marta Novotová, Mária Balážová, Miroslav Sabo, Václav Pustka, Jozef Ukropec, Barbara Ukropcová   +11 more
wiley   +1 more source

The Role of Lonp1 on Mitochondrial Functions during Cardiovascular and Muscular Diseases. [PDF]

Antioxidants (Basel), 2023
Zanini G, Selleri V, Malerba M, Solodka K, Sinigaglia G, Nasi M, Mattioli AV, Pinti M.   +7 more
europepmc   +1 more source

Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. [PDF]

, 2019
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Prior studies have highlighted the importance of AR nuclear localization in SBMA pathogenesis; therefore, in ...
Arnold, Frederick J., Merry, Diane E., Pluciennik, Anna   +2 more
core   +3 more sources

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice [PDF]

, 2015
Duchenne muscular dystrophy (DMD) is characterized by progressive lethal muscle degeneration and chronic inflammatory response. The mdx mouse strain has served as the animal model for human DMD. However, while DMD patients undergo extensive necrosis, the
Berardinelli, Maria Grazia, Camilli, Carlotta, Catizone, Angela, De Benedetti, Fabrizio, Forcina, Laura, Musarò, Antonio, Nicoletti, Carmine, Pelosi, Laura, Rizzuto, Emanuele, Spelta, Elisa, Testa, Erika   +10 more
core   +2 more sources