Results 41 to 50 of about 10,064 (198)

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

Journal of Lipid Research, 1999
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL, E.C. 4.1.3.4) has a unique dual localization in both mitochondria and peroxisomes. Mitochondrial HL (~31.0 kDa) catalyzes the last step of ketogenesis; the function of peroxisomal HL (~33.5 kDa) is unknown.
Lyudmila I. Ashmarina, Alexey V. Pshezhetsky, Steven S. Branda, Grazia Isaya, Grant A. Mitchell   +4 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China [PDF]

PeerJ
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021.
Jingying Zhu, Li Han, Pingjingwen Yang, Ziyi Feng, Shuyuan Xue   +4 more
doaj   +2 more sources

Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood. [PDF]

PLoS Genetics, 2015
Profiling amino acids and acylcarnitines in whole blood spots is a powerful tool in the laboratory diagnosis of several inborn errors of metabolism. Emerging data suggests that altered blood levels of amino acids and acylcarnitines are also associated ...
Ralph Burkhardt, Holger Kirsten, Frank Beutner, Lesca M Holdt, Arnd Gross, Andrej Teren, Anke Tönjes, Susen Becker, Knut Krohn, Peter Kovacs, Michael Stumvoll, Daniel Teupser, Joachim Thiery, Uta Ceglarek, Markus Scholz   +14 more
doaj   +1 more source

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Cell Reports, 2015
A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process.
Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Chantale Aubut, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Jessica Tardif, Julie Thompson Legault, Nancy Tremblay, Vanessa Tremblay-Vaillancourt, Luc Vachon, Josée Villeneuve   +39 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source