Results 91 to 100 of about 146,584 (332)
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
Evidence-based treatment of metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To evaluate the current treatments and possible adverse reactions of metabolic myopathy, and to develop the best solution for evidence-based treatment.
Yan LIN, Wen-wu ZHANG, Ling LIU
doaj
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Achanzar +70 more
core +1 more source
Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses +21 more
wiley +1 more source
Small heat-shock proteins: important players in regulating cellular proteostasis [PDF]
, 2015 Small heat-shock proteins (sHsps) are a diverse family of intra-cellular molecular chaperone proteins that play a critical role in mitigating and preventing protein aggregation under stress conditions such as elevated temperature, oxidation and infection.
Carver, John A. +3 more
core +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation [PDF]
, 2018 Hypoglycin A (HGA) toxicity, following ingestion of material from certain plants, is linked to an acquired multiple acyl-CoA dehydrogenase deficiency known as atypical myopathy, a commonly fatal form of equine rhabdomyolysis seen worldwide.
González-Medina, S +3 more
core +1 more source
Animal Research and One Health, EarlyView.Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri +8 more
wiley +1 more source
Feline Hypertrophic Cardiomyopathy: A Spontaneous Large Animal Model of Human HCM. [PDF]
, 2017 Hypertrophic cardiomyopathy (HCM) is a common disease in pet cats, affecting 10-15% of the pet cat population. The similarity to human HCM, the rapid progression of disease, and the defined and readily determined endpoints of feline HCM make it an ...
Freeman, Lisa M +4 more
core +2 more sources