Results 101 to 110 of about 242,487 (311)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Short-chain fatty acid acetate stimulates adipogenesis and mitochondrial biogenesis via GPR43 in brown adipocytes [PDF]
, 2016 Short-chain fatty acids play crucial roles in a range of physiological functions. However, the effects of short-chain fatty acids on brown adipose tissue have not been fully investigated.
GK Dimitriadis (7772033) +45 more
core +1 more source
MicroorganismsIn view of the growing global need for sustainable protein sources, this study explores the utilization of short-chain fatty acids into single-cell protein using the non-conventional yeast Cyberlindnera jadinii. Short-chain fatty acids can be sustainably
Christian Hermansen +7 more
doaj +1 more source
Gut Microbiota, Short-Chain Fatty Acids, and Herbal Medicines
Frontiers in Pharmacology, 2018 As an important source for traditional medical systems such as Ayurvedic medicine and traditional Chinese medicine, herbal medicines have received widespread attentions from all over the world, especially in developing countries.
Wuwen Feng +3 more
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Effects of long-term soluble vs. insoluble dietary fiber intake on high-fat diet-induced obesity in C57BL/6J mice [PDF]
, 2010 Although most of the proposed beneficial effects of fiber consumption have been attributed to viscous and gel-forming properties of soluble fiber, it is mainly insoluble cereal fiber and whole grains that are strongly associated with reduced diabetes ...
Isken, Frank +4 more
core +1 more source
Grasas y Aceites, 2004 The effect of seasonal and geographical influences on the fatty acid compositions of cow's milk fat from Asturias (northern Spain ) was studied. The majority of the fatty acids analysed presented differences (p < 0.05) due to the seasonal factor, only ...
Leocadio Alonso +2 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Three-year tracking of fatty acid composition of plasma phospholipids in healthy children [PDF]
, 2007 Objectives: The fatty acid composition of plasma phospholipids reflects the dietary fatty acid intake as well as endogenous turnover. We aimed at investigating the potential tracking of plasma phospholipid fatty acid composition in children that ...
Toschke, Andre Michael +3 more
core +1 more source