Results 141 to 150 of about 2,946,385 (264)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son   +3 more
wiley   +1 more source

Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine [PDF]

open access: yes, 2017
Objectives: The overall aim of our research project was to develop a Next Generation Sequencing strategy to identify nuclear disease causing-mutations in patients suspicious of mitochondrial disorders but without molecular etiology.This Research Project ...
Vilarinho, Laura   +16 more
core  

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou   +6 more
wiley   +1 more source

Mitochondrial Mutations in Cardiovascular Diseases: Preliminary Findings

open access: yes
Background/Objectives: Mitochondria are the main organelles for ATP synthesis able to produce energy for several different cellular activities.
Dimitrios C. Angouras   +6 more
core   +1 more source

Hepatic Mitochondrial Renin-Angiotensin Systems [PDF]

open access: yes, 2015
Introduction: The circulating renin-angiotensin system (RAS) was originally described as a key endocrine regulator of intravascular homeostasis; however, the existence of a local (tissue) RAS has become increasingly reported in a variety of tissues ...
Skipworth, JRA
core  

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai   +13 more
wiley   +1 more source

Obesity Subtypes and Longitudinal Trajectories of Function Over Seven Years of Follow‐Up: Data From the Multicenter Osteoarthritis Study

open access: yesArthritis Care &Research, EarlyView.
Objective Obesity, defined by body mass index (BMI) ≥30 kg/m2, is a risk factor for functional limitations in people with knee osteoarthritis (OA). However, function varies among such individuals. Our objective was to evaluate the implications of obesity subtypes on longitudinal patterns of physical functioning in people with or at risk for knee OA ...
Kristine Godziuk   +7 more
wiley   +1 more source

Mitochondrial heat shock protein 70, a molecular chaperone for proteins encoded by mitochondrial DNA [PDF]

open access: yes, 1994
Mitochondrial heat shock protein 70 (mt-Hsp70) has been shown to play an important role in facilitating import into, as well as folding and assembly of nuclear-encoded proteins in the mitochondrial matrix.
Herrmann, Johannes M.   +3 more
core  

Elevated liver enzymes is not an impediment to allopurinol dose escalation: an observational cohort study

open access: yesArthritis Care &Research, Accepted Article.
Objective Routine liver enzyme monitoring is advocated while on allopurinol but supporting guidance is lacking. We assessed the incidence and factors associated with elevated liver enzymes in gout patients commenced on allopurinol. Methods 150 patients with gout and normal baseline serum aminotransferases initiated on allopurinol were followed ...
May Shuen Tang   +4 more
wiley   +1 more source

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