Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo +11 more
wiley +1 more source
High-intensity resistance training attenuates dexamethasone-induced muscle atrophy
We investigated the effects of high-intensity resistance training (RT) on dexamethasone (DEX) induced muscle atrophy in flexor hallucis longus (FHL), tibialis anterior (TA), and soleus (SOL) muscles.
Rush, James W. E. +9 more
core +1 more source
Bezafibrate attenuates immobilization-induced muscle atrophy in mice
Muscle atrophy due to fragility fractures or frailty worsens not only activity of daily living and healthy life expectancy, but decreases life expectancy.
Satoshi Nakamura +8 more
doaj +1 more source
Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki +6 more
wiley +1 more source
Periorbital muscle atrophy associated with topical bimatoprost therapy
Priscilla Xinhui Wang, Victor Teck Chang Koh, Jin Fong ChengDepartment of Ophthalmology, National University Health System, SingaporeAbstract: Topical Bimatoprost is a common and popular prostaglandin analog used as an ocular hypotensive agent in the ...
Wang PX, Koh VT, Cheng JF
core
Capsaicin protects against atrophy in human skeletal muscle cells [PDF]
Skeletal muscle atrophy occurs in many pathological conditions, e.g. AIDS, cancer, sepsis and starvation, and with increased age. There is currently no effective treatment to prevent or reverse this muscle wasting.
Kortzon, Evelina C
core
Cellular and molecular mechanisms of muscle atrophy [PDF]
Skeletal muscle is a plastic organ that is maintained by multiple pathways regulating cell and protein turnover. During muscle atrophy, proteolytic systems are activated, and contractile proteins and organelles are removed, resulting in the shrinkage of ...
Paolo Bonaldo +3 more
core +1 more source
EDA2R–NIK signalling promotes muscle atrophy linked to cancer cachexia
Skeletal muscle atrophy is a hallmark of the cachexia syndrome that is associated with poor survival and reduced quality of life in patients with cancer. Muscle atrophy involves excessive protein catabolism and loss of muscle mass and strength.
Bahar Z. C. Weber +23 more
core +1 more source
Deubiquitinases in skeletal muscle atrophy [PDF]
The ubiquitin proteasome system plays a critical role in skeletal muscle atrophy. A large body of research has revealed that many ubiquitin ligases are induced and play an important role in mediating the wasting. However, relatively little is known about the roles of deubiquitinases in this process.
openaire +2 more sources

