Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]
, 2016 Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core
HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration
Advanced Science, EarlyView.This study constructed the first developmental atlas of embryonic skeletal muscle fibro/adipogenic progenitors (FAPs) and identified an HMGB2+ FAPs subpopulation that regulates FAP pool size and muscle homeostasis. HMGB2 directly targets the RAD21 promoter, and its knockout significantly reduces FAP numbers, thereby lowering the potential for ...
Xian Tong +14 more
wiley +1 more source
Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]
, 2016 Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core +1 more source
Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism
Advanced Science, EarlyView.The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying +8 more
wiley +1 more source
The Epidemiology of Stargardt Disease in the United Kingdom [PDF]
, 2017 The authors thank the British Ophthalmological Surveillance Unit (BOSU) for the support received, as well as Mr Barnaby Foot, research coordinator for BOSU, for his help and advice on this project.
Bainbridge, James +5 more
core +2 more sources
Advanced Science, EarlyView.Fibronectin regulates the extracellular matrix (ECM)–myofibroblast cycle through three key steps: (1) its secretion and assembly by myofibroblasts (inhibited by pUR4); (2) collagen deposition along its scaffold (inhibited by R1R2); and (3) integrin α5β1‐mediated mechanotransduction (inhibited by ATN161).
Wenlong Ma +10 more
wiley +1 more source
Delivery of A Chemically Modified Noncoding RNA Domain Improves Dystrophic Myotube Function
Advanced ScienceFast twitch muscle fibers are prone to degradation in skeletal muscle pathologies, such as sarcopenia and muscular dystrophies. We previously showed that the exercise‐induced long noncoding RNA CYTOR promotes fast‐twitch myogenesis.
Zeinabou Niasse‐Sy +6 more
doaj +1 more source
Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility [PDF]
, 2006 Although cataract is a characteristic feature of myotonic dystrophy type 1 (DM1), little is known of the underlying mechanisms. We generated four lens epithelial cell lines derived from DM1 cataracts and two from age-matched, non-DM cataracts. Small-pool
Abe +40 more
core +2 more sources
Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases
Advanced Science, EarlyView.Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh +17 more
wiley +1 more source
Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]
, 2016 Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F +9 more
core +1 more source