Results 51 to 60 of about 393,617 (341)

Translational and Regulatory Challenges for Exon Skipping Therapies [PDF]

, 2014
Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and ...
Aartsma-Rus, A, Balabanov, P, Bushby, K, Duchenne Parent Project, European Med Agency, Ferlini, A, Ferrara, Italy, Goemans, N, Groningen, Katholieke Univ Leuven, Leiden Uni Medical Center, Newcastle, Pasmooij, A M G, Vroom, E, Wells, D J   +14 more
core   +2 more sources

Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation

FEBS Letters, EarlyView.
The β‐actin G74S mutation causes altered interaction of actin with SETD3, reducing histidine‐73 methylation efficiency and forming two distinct actin variants. The variable ratio of these variants across cell types and developmental stages contributes to tissue‐specific phenotypical changes. This imbalance may impair actin dynamics and mechanosensitive
Anja Marquardt, Marcus S. Münchhoff, Jacqueline Krohn, Philip M. Palarz, Manuel H. Taft, Johannes N. Greve, Nataliya Di Donato, Falk F. R. Buettner, Dietmar J. Manstein   +8 more
wiley   +1 more source

The Emerging Role of Mitochondrial Dysfunction in the Pathogenesis of Idiopathic Inflammatory Myopathies

Rambam Maimonides Medical Journal, 2023
Increasing evidence points towards mitochondria as crucial players in the initiation and progression of auto-immune and degenerative disorders, to which impaired cell metabolism is but a facet of the subjacent etiopathogenesis.
Jorge Armando Gonzalez-Chapa, Marina Barguil Macêdo, Christian Lood   +2 more
doaj   +1 more source

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

FEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu, Huseyn Babayev, Ismail Ogulur, Sena Ardicli, Yagiz Pat, Duygu Yazici, Bingjie Zhao, Lihong Chang, Xiaoqing Liu, Paolo D'Avino, Manru Li, Ceren Biçer, Fatma Hacer Kurtoğlu Babayev, Raja Dhir, Kari C. Nadeau, Marie‐Charlotte Brüggen, Mubeccel Akdis, Cezmi A. Akdis   +17 more
wiley   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

From omics to AI—mapping the pathogenic pathways in type 2 diabetes

FEBS Letters, EarlyView.
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan, Lu Qi, Pierre Zalloua   +2 more
wiley   +1 more source

The anabolic steroid stanozolol is a potent inhibitor of human MutT homolog 1

FEBS Letters, EarlyView.
MutT homolog 1 (MTH1) is a member of the NUDIX superfamily of enzymes and is an anticancer drug target. We show that stanozolol (Stz), an anabolic steroid, is an unexpected nanomolar inhibitor of MTH1. The X‐ray crystal structure of the human MTH1–Stz complex reveals a unique binding scaffold that could be utilized for future inhibitor development ...
Emma Scaletti Hutchinson, Robert Gustafsson Westergren, Ingrid Almlöf, Ann‐Sofie Jemth, Martin Scobie, Ulrika Warpman Berglund, Thomas Helleday, Pål Stenmark   +7 more
wiley   +1 more source

Advances in quantitative MRI of hereditary myopathies

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
MRI can non⁃invasively show the muscles pathological change and damage pattern. It has taken an important role in myopathies diagnosis and research. The emergence of quantitative MRI (qMRI) technology and the advancement of post⁃processing methods can ...
LIANG Ying⁃yin, LI Gui⁃dian, HE Rong⁃xing, WANG Liang, ZHANG Cheng   +4 more
doaj   +1 more source

Neutrophil deficiency increases T cell numbers at the site of tissue injury in mice

FEBS Letters, EarlyView.
In wild‐type mice, injury or acute inflammation induces neutrophil influx followed by macrophage accumulation. Mcl1ΔMyelo (neutrophil‐deficient) mice lack neutrophils, and in response to muscle injury show fewer macrophages and exhibit strikingly elevated T‐cell numbers, primarily non‐conventional “double‐negative” (DN) αβ and γδ T cells.
Hajnalka Halász, Albert Bálint Papp, Lukács Sándor Lesinszki, Attila Mócsai, Tamás Varga, László Nagy, Péter Gogolák   +6 more
wiley   +1 more source

Application of muscle MRI in diagnosis of hereditary myopathies

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
MRI is the most clear and accurate imaging technique for detecting muscle involvement. In recent years, MRI has been widely used in diagnosis and follow⁃up of muscle disorders.
SONG Jia, PANG Mi, LI Gang, FU Jun, MA Ming⁃ming   +4 more
doaj   +1 more source