Results 111 to 120 of about 13,537,879 (292)

Hereditary muscular dystrophies [PDF]

, 2009
Precise diagnostic of hereditary muscular diseases begins to change during recent years due to genetic achievements. Genetic defects discoveries typical for different clinical variants of muscular dystrophies give opportunity for creation of specific ...
O. B. Doronina, V. B. Doronin
core   +1 more source

TRPML1 agonist ML‐SA5 attenuates pulmonary fibroblast activation by suppressing mTOR and restoring autophagic flux

FEBS Open Bio, EarlyView.
TGF‐β1 stimulation downregulates lysosomal channel TRPML1 in pulmonary fibroblasts. The TRPML1 agonist ML‐SA5 suppressed fibroblast‐to‐myofibroblast activation and collagen production. Mechanistically, ML‐SA5 inhibited mTOR phosphorylation, restored autophagic flux, and its effects were enhanced by rapamycin (mTOR inhibitor) and reversed by MHY1485 ...
Jiatong Yao, Xiaoting Kang, Lulu Meng, Shaoxuan Zhang, Qiujie Li, Jinyu Zhou, Mengyue Xue, Chu Li, Hua Zhu, Pengzhou Hang, Jing Zhao   +10 more
wiley   +1 more source

Beta1 subunits enable fentanyl‐induced BK channel activation and opioid regulation of cerebral artery diameter

FEBS Open Bio, EarlyView.
During the current opioid crisis, the majority of overdose deaths are attributed to ultra‐potent synthetic opioids, such as fentanyl. While fentanyl exerts its action via opioid receptors, we propose that potassium channels in the brain blood vessels may also sense fentanyl.
Shiwani Thapa, Mohammed Nooh, Akhil Geddati, Alex Dopico, Anna N. Bukiya   +4 more
wiley   +1 more source

Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals

Orphanet Journal of Rare Diseases
Background Despite the increasing availability of clinical trials in Duchenne muscular dystrophy, racial/ethnic minorities and other populations facing health disparities remain underrepresented in clinical trials evaluating products for Duchenne.
Norah L. Crossnohere, Nicola B. Campoamor, Eric Camino, Erin Dresnick, Daphne Oluwaseun Martschenko, Viana Rodrigues, Susan Apkon, Alexis Hazlett, Dhruv Mittur, Priscilla E. Rodriguez, John F. P. Bridges, Niki Armstrong   +11 more
doaj   +1 more source

Progress of Research on the Metabolic Regulation of Lactylation in Muscle Tissues and Its Disease Associations

Biomolecules
Lactylation serves as a vital link between cellular metabolism and epigenetic regulation and plays a pivotal role in muscle biology. Muscle tissue is the primary site of lactate production; its unique metabolic environment confers dynamism, specificity ...
Zhihang Wang, Ji Zhang, Junxi Wu, Guangrun Liu, Yun He, Hongbo Zhao, Xiaolin Jiang, Shengbo Yang   +7 more
doaj   +1 more source

Hydrogel platforms for 3D cardiac tissue engineering and fibrotic disease modelling

FEBS Open Bio, EarlyView.
Hydrogel‐based cardiac tissue models are advancing our understanding of heart health and disease. By incorporating electrical conductivity, aligned structures, and tunable mechanical properties, these platforms better replicate the complex environment of native heart tissue.
Harrison Porritt, Annika Winbo, Jenny Malmström   +2 more
wiley   +1 more source

PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy [PDF]

, 2007
The coactivator PGC-1alpha mediates key responses of skeletal muscle to motor nerve activity. We show here that neuregulin-stimulated phosphorylation of PGC-1alpha and GA-binding protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and ...
Handschin, C., Kobayashi, Y M, Chin, S, Kobayashi, Y. M., Seale, P., Seale, P, Spiegelman, B. M., Handschin, C, Campbell, K. P., Campbell, K P, Spiegelman, B M, Chin, S.   +11 more
core   +1 more source

Correction to: Newborn screening in mucopolysaccharidoses

Italian Journal of Pediatrics, 2019
The original article contains an unintended omission of a statement of competing interests. As such, the authors would like to declare the following complete statement of competing interests:
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina   +4 more
doaj   +1 more source

A Low Psoas Muscle Index Was Associated With a Poorer Overall Survival in Patients Who Underwent Percutaneous Nephrostomy

Aging and Cancer, EarlyView.
In patients with malignant ureteral obstruction undergoing percutaneous nephrostomy, sarcopenia defined by a low psoas muscle index was independently associated with poor overall survival on multivariate Cox regression analysis, suggesting that preoperative assessment of psoas muscle index may aid prognostic stratification in this population.
Kota Shimokihara, Takashi Kawahara, Kazuhide Makiyama, Hiroji Uemura   +3 more
wiley   +1 more source

An investigation of emerin and nuclear lamins: : Interactions, distribution, and role in cell cycle regulation, in cells derived from EDMD patients. [PDF]

, 2002
Emery Dreifuss muscular dystrophy (EDMD) is caused by mutations either in the gene encoding emerin or in the gene encoding A-type lamins (lamins A and C).
Maria, Choleza
core