1,664 results match your criteria: "Menkes Disease"
Neural Regen Res
November 2024
International Research Laboratory of Ethnomedicine of Ministry of Education, Key Laboratory of Basic Pharmacology of Ministry of Education, Laboratory Animal Center and Key Laboratory of Basic Pharmacology of Guizhou Province, Zunyi Medical University, Zunyi, Guizhou Province, China.
Copper, one of the most prolific transition metals in the body, required for normal brain physiological activity and allows various functions to work normally through its range of concentrations. Copper homeostasis is meticulously maintained through a complex network of copper-dependent proteins, including copper transporters (CTR1 and CTR2), the two copper ion transporters the Cu -transporting ATPase 1 (ATP7A) and Cu-transporting beta (ATP7B), and the three copper chaperones ATOX1, CCS, and COX17. Disruptions in copper homeostasis can lead to either the deficiency or accumulation of copper in brain tissue.
View Article and Find Full Text PDFF1000Res
November 2024
Neonatal Intensive Care Unit, King Fahad Medical City, Riyadh, Saudi Arabia.
Cancers (Basel)
October 2024
Department of Gastroenterology and Internal Medicine, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Minerals constitute only 5% of the typical human diet but are vital for health and functionality. Copper, a trace element, is absorbed by the human gut at 30-40% from diets typical of industrialized countries. The liver produces metallothioneins, which store copper.
View Article and Find Full Text PDFAm J Physiol Heart Circ Physiol
November 2024
Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, New York, United States.
Thyroid hormone dysfunction is frequently observed in patients with chronic illnesses including heart failure, which increases the risk of adverse events. This study examined the effects of thyroid hormones (THs) on cardiac transverse-tubule (TT) integrity, Ca sparks, and nanoscale organization of ion channels in excitation-contraction (EC) coupling, including L-type calcium channel (Ca1.2), ryanodine receptor type 2 (RyR2), and junctophilin-2 (Jph2).
View Article and Find Full Text PDFBMJ Case Rep
October 2024
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA
Rev Neurol
September 2024
Hospital Universitario Miguel Servet, Zaragoza, España.
Physiol Rev
January 2025
Department of Pathology, Cancer Center, Beth Israel Deaconess Medical Center, Boston, Massachusetts, United States.
In the past decade, evidence for the numerous roles of copper (Cu) in mammalian physiology has grown exponentially. The discoveries of Cu involvement in cell signaling, autophagy, cell motility, differentiation, and regulated cell death (cuproptosis) have markedly extended the list of already known functions of Cu, such as a cofactor of essential metabolic enzymes, a protein structural component, and a regulator of protein trafficking. Novel and unexpected functions of Cu transporting proteins and enzymes have been identified, and new disorders of Cu homeostasis have been described.
View Article and Find Full Text PDFBiomed Pharmacother
September 2024
Changzhou Key Laboratory of Molecular Diagnostics and Precision Cancer Medicine, Wujin Hospital Affiliated with Jiangsu University, Jiangsu University, Changzhou, China; Department of Laboratory Medicine, Wujin Hospital Affiliated with Jiangsu University, Jiangsu University, Changzhou, China. Electronic address:
Cuproptosis is a novel form of regulated cell death, which plays an important role in the physiological and pathological processes of the human body. Despite the increasing research on cuproptosis-related genes (CRGs) and their correlation with diseases, the pathogenesis of cuproptosis-related diseases remains unclear. Furthermore, there is a lack of reviews on the emerging technologies for regulating cuproptosis in disease treatment.
View Article and Find Full Text PDFNeural Regen Res
April 2025
Institute of Experimental Neurology, Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
Neurol Sci
July 2024
Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Background: Menkes Disease (MD) is a fatal X-linked recessive disorder caused by mutations in the ATP7A gene. Severe cases typically die before the age of three. Mild MD and occipital horn syndrome are variants of MD characterized by a less severe phenotype and longer survival.
View Article and Find Full Text PDFInt J Eat Disord
September 2024
Faculty of Medical and Health Sciences, Department of Psychological Medicine, University of Auckland, Auckland, New Zealand.
Objective: An unprecedented rise in eating disorder presentations has been documented in several countries during the COVID-19 pandemic. We explored this phenomenon by analyzing nationwide psychiatric admissions over 5 years, controlling for demographic variables.
Methods: We retrospectively analyzed all hospitalizations in New Zealand with a primary psychiatric diagnosis from 2017 to 2021, using Poisson regression to calculate admission rates by diagnosis, before and during the pandemic.
Sheng Li Xue Bao
June 2024
Department of Nephrology, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, China.
BMC Pediatr
June 2024
Department of Radiology, West China Second University Hospital of Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
J Phys Chem B
June 2024
Dipartimento di Scienze della Salute, Università Magna Graecia di Catanzaro, Viale Europa, 88100 Catanzaro, Italy.
Eur J Neurosci
July 2024
Department of Neurobiology and Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Copper is a critical trace element in biological systems due the vast number of essential enzymes that require the metal as a cofactor, including cytochrome c oxidase, superoxide dismutase and dopamine-β-hydroxylase. Due its key role in oxidative metabolism, antioxidant defence and neurotransmitter synthesis, copper is particularly important for neuronal development and proper neuronal function. Moreover, increasing evidence suggests that copper also serves important functions in synaptic and network activity, the regulation of circadian rhythms, and arousal.
View Article and Find Full Text PDFPLoS Negl Trop Dis
April 2024
ENTROPIE, IRD, Univ Reunion, CNRS, IFREMER, Univ Nouvelle Calédonie, Nouméa, New Caledonia.
Background: Leptospirosis is a neglected zoonosis which remains poorly known despite its epidemic potential, especially in tropical islands where outdoor lifestyle, vulnerability to invasive reservoir species and hot and rainy climate constitute higher risks for infections. Burden remains poorly documented while outbreaks can easily overflow health systems of these isolated and poorly populated areas. Identification of generic patterns driving leptospirosis dynamics across tropical islands would help understand its epidemiology for better preparedness of communities.
View Article and Find Full Text PDFBioTech (Basel)
April 2024
Department of General and Inorganic Chemistry with Methodology of Chemistry Education, Faculty of Chemistry, University of Plovdiv, "Tzar Assen" Str. 24, 4000 Plovdiv, Bulgaria.
Neural Regen Res
November 2024
Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Brain tissue requires high amounts of copper (Cu) for its key physiological processes, such as energy production, neurotransmitter synthesis, maturation of neuropeptides, myelination, synaptic plasticity, and radical scavenging. The requirements for Cu in the brain vary depending on specific brain regions, cell types, organism age, and nutritional status. Cu imbalances cause or contribute to several life-threatening neurologic disorders including Menkes disease, Wilson disease, Alzheimer's disease, Parkinson's disease, and others.
View Article and Find Full Text PDFJ Assist Reprod Genet
May 2024
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, No 218 Jixi Road, Hefei, 230022, Anhui, China.
Background: Preimplantation genetic testing for monogenic disorders (PGT-M) is now widely used as an effective strategy to prevent various monogenic or chromosomal diseases.
Material And Methods: In this retrospective study, couples with a family history of hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes and/or carrying the pathogenic genes underwent PGT-M to prevent children from inheriting disease-causing gene mutations from their parents and developing known genetic diseases. After PGT-M, unaffected (i.
Cancers (Basel)
February 2024
Department of Biology, University of Massachusetts, Amherst, MA 01003, USA.
Copper, an essential element for various biological processes, demands precise regulation to avert detrimental health effects and potential cell toxicity. This paper explores the mechanisms of copper-induced cell death, known as cuproptosis, and its potential health and disease implications, including cancer therapy. Copper ionophores, such as elesclomol and disulfiram, increase intracellular copper levels.
View Article and Find Full Text PDFMetabolites
January 2024
Department of Paediatric Neurology, Faculty of Medical Sciences, Medical University of Silesia, 40-055 Katowice, Poland.
Copper plays an important role in metabolic processes. Both deficiency and excess of this element have a negative effect and lead to pathological conditions. Copper is a cofactor of many enzymatic reactions.
View Article and Find Full Text PDFRSC Adv
January 2024
Laboratorio de Fisicoquímica y Reactividad de Superficies (LaFReS), Instituto de Investigaciones en Materiales, Universidad Nacional Autónoma de México Circuito Exterior s/n, CU, Del. Coyoacán 04510 Ciudad de México Mexico
Copper deficiency can trigger various diseases such as Amyotrophic Lateral Sclerosis (ALS), Parkinson's disease (PD) and even compromise the development of living beings, as manifested in Menkes disease (MS). Thus, the regulated administration (controlled release) of copper represents an alternative to reduce neuronal deterioration and prevent disease progression. Therefore, we present, to the best of our knowledge, the first experimental investigation for the kinetics of copper release from MOF-74(Cu) and its distribution after oral administration in male Wistar rats.
View Article and Find Full Text PDFSci Rep
January 2024
Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Eur J Med Genet
February 2024
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK. Electronic address:
Biomolecules
December 2023
INSERM U1296 Unit "Radiation: Defense, Health, Environment", Centre Léon-Bérard, 69008 Lyon, France.