Results 11 to 20 of about 20,316 (189)

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With <i>COASY</i> Protein Associated Neurodegeneration. [PDF]

JIMD Rep
ABSTRACT COASY protein associated neurodegeneration is a rare, progressive autosomal recessive neuroferritinopathy due to pathogenic mutations in the COASY gene, coding for the mitochondrial located coenzyme A synthase. Clinical manifestations include seizures, progressive spasticity, dystonia, neuropathy, cognitive decline and neuropsychiatric ...
Lynch M, Manoy S, Murray C, Wallace G, Pereira N, Price R, Inwood A, McGill J, Coman D.   +8 more
europepmc   +2 more sources

Acylcarnitine profile analysis [PDF]

Genetics in Medicine, 2008
These Technical Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome.
Piero, Rinaldo, Tina M, Cowan, Dietrich, Matern   +2 more
openaire   +2 more sources

The NADPH oxidase NOX4 regulates redox and metabolic homeostasis preventing HCC progression

Hepatology, EarlyView., 2022
Loss of NOX4 in HCC tumor cells induces metabolic reprogramming in a Nrf2/MYC‐dependent manner to promote HCC progression. Abstract Background and Aims The NADPH oxidase NOX4 plays a tumor‐suppressor function in HCC. Silencing NOX4 confers higher proliferative and migratory capacity to HCC cells and increases their in vivo tumorigenic potential in ...
Irene Peñuelas‐Haro, Rut Espinosa‐Sotelo, Eva Crosas‐Molist, Macarena Herranz‐Itúrbide, Daniel Caballero‐Díaz, Ania Alay, Xavier Solé, Emilio Ramos, Teresa Serrano, María L. Martínez‐Chantar, Ulla G. Knaus, José M. Cuezva, Antonio Zorzano, Esther Bertran, Isabel Fabregat   +14 more
wiley   +1 more source

Metabolic Pathways of Acylcarnitine Synthesis

Physiological Research, 2023
Acylcarnitines are important markers in metabolic studies of many diseases, including metabolic, cardiovascular, and neurological disorders. We reviewed analytical methods for analyzing acylcarnitines with respect to the available molecular structural information, the technical limitations of legacy methods, and the potential of new mass spectrometry ...
Jana Brejchova, Kristyna Brejchova, Ondrej Kuda   +2 more
openaire   +3 more sources

Plasma acylcarnitine concentrations reflect the acylcarnitine profile in cardiac tissues [PDF]

Scientific Reports, 2017
AbstractIncreased plasma concentrations of acylcarnitines (ACs) are suggested as a marker of metabolism disorders. The aim of the present study was to clarify which tissues are responsible for changes in the AC pool in plasma. The concentrations of medium- and long-chain ACs were changing during the fed-fast cycle in rat heart, muscles and liver. After
Marina Makrecka-Kuka, Eduards Sevostjanovs, Karlis Vilks, Kristine Volska, Unigunde Antone, Janis Kuka, Elina Makarova, Osvalds Pugovics, Maija Dambrova, Edgars Liepinsh   +9 more
openaire   +2 more sources

Acquired Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline in Sweden-A Nationwide Population-Based Study. [PDF]

Eur J Neurol
Multiple acyl‐coenzyme A dehydrogenase deficiency‐like disease has recently been described as a rare adverse effect of sertraline. We performed a nationwide population‐based retrospective study in Sweden (2014–2024) including 40 patients, corresponding to an incidence of 1.24 per 100,000 treated individuals per year.
Sunebo S, Nilsson E, Engvall M, Hedberg-Oldfors C, Shen Y, Nennesmo I, Danielsson O, Oldfors A, Appelqvist H, Lindgren U.   +9 more
europepmc   +2 more sources

Metabolic Impairment in Coronary Artery Disease: Elevated Serum Acylcarnitines Under the Spotlights

Frontiers in Cardiovascular Medicine, 2021
Coronary artery disease (CAD) remains the leading cause of death worldwide. Expanding patients' metabolic phenotyping beyond clinical chemistry investigations could lead to earlier recognition of disease onset and better prevention strategies ...
Joséphine Gander, Justin Carrard, Hector Gallart-Ayala, Rébecca Borreggine, Tony Teav, Denis Infanger, Flora Colledge, Lukas Streese, Jonathan Wagner, Christopher Klenk, Gilles Nève, Raphael Knaier, Henner Hanssen, Arno Schmidt-Trucksäss, Julijana Ivanisevic   +14 more
doaj   +1 more source

Postmortem Metabolomics Reveal Acylcarnitines as Potential Biomarkers for Fatal Oxycodone-Related Intoxication

Metabolites, 2022
Postmortem metabolomics has recently been suggested as a potential tool for discovering new biological markers able to assist in death investigations. Interpretation of oxycodone concentrations in postmortem cases is complicated, as oxycodone tolerance ...
Albert Elmsjö, Carl Söderberg, Gerd Jakobsson, Henrik Green, Robert Kronstrand   +4 more
doaj   +1 more source

Blood carnitine profiling on tandem mass spectrometry in liver cirrhotic patients

BMC Gastroenterology, 2020
Background The level and profiles of blood free carnitine and acylcarnitines, obtained by acylcarnitine analysis using tandem mass spectrometry, reflect various metabolic conditions.
Hisamitsu Miyaaki, Hironori Kobayashi, Satoshi Miuma, Masanori Fukusima, Ryu Sasaki, Masafumi Haraguchi, Kazuhiko Nakao   +6 more
doaj   +1 more source

Acylcarnitine Profiles in Acetaminophen Toxicity in the Mouse: Comparison to Toxicity, Metabolism and Hepatocyte Regeneration

Metabolites, 2013
High doses of acetaminophen (APAP) result in hepatotoxicity that involves metabolic activation of the parent compound, covalent binding of the reactive intermediate N-acetyl-p-benzoquinone imine (NAPQI) to liver proteins, and depletion of hepatic ...
Jack Hinson, Laura James, Pippa Simpson, Leah Hennings, Ke Yan, Sandra McCullough, Shubhra Chaudhuri, Richard Beger, Lisa Pence, Sudeepa Bhattacharyya   +9 more
doaj   +1 more source