1,664 results match your criteria: "Menkes Disease"
Curr Neuropharmacol
June 2024
Science and Technology Innovation Center, Guangzhou University of Chinese Medicine, Guangzhou, China.
Neurodegenerative diseases encompass a collection of neurological disorders originating from the progressive degeneration of neurons, resulting in the dysfunction of neurons. Unfortunately, effective therapeutic interventions for these diseases are presently lacking. Copper (Cu), a crucial trace element within the human body, assumes a pivotal role in various biological metabolic processes, including energy metabolism, antioxidant defense, and neurotransmission.
View Article and Find Full Text PDFBiol Psychiatry Glob Open Sci
January 2024
Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
Background: Inner retinal atrophy has been demonstrated in schizophrenia spectrum disorder (SSD) using optical coherence tomography (OCT). This systematic review and meta-analysis investigated the role of contemporary Fourier domain OCT devices in SSD.
Methods: MEDLINE, PubMed, Scopus, Embase, PsycInfo, PYSNDEX, World Health Organization, and Cochrane databases were searched from inception until May 2022.
bioRxiv
November 2023
McLaughlin Research Institute, 1520 23 St. South, Great Falls, MT 59405 USA.
Genetic modifier screens provide a useful tool, in diverse organisms from to and mice, for recovering new genes of interest that may reduce or enhance a phenotype of interest. This study reports a modifier screen, based on N-ethyl-N-nitrosourea (ENU) mutagenesis and outcrossing, designed to increase understanding of the normal function of murine α-synuclein (). Human was the first gene linked to familial Parkinson's disease.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2023
Key Laboratory of Obstetrics and Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Pediatr Int
November 2023
Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Curr Res Parasitol Vector Borne Dis
August 2023
Institut Pasteur de Nouvelle-Calédonie, Institut Pasteur International Network, URE Dengue et Arborises, Nouméa 98845, New Caledonia.
Mosquito-borne viruses are leading causes of morbidity and mortality in many parts of the world. In recent years, modelling studies have shown that climate change strongly influences vector-borne disease transmission, particularly rising temperatures. As a result, the risk of epidemics has increased, posing a significant public health risk.
View Article and Find Full Text PDFCurr Med Chem
September 2024
Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410000, China.
As a transitional metal, copper plays a crucial role in maintaining the normal physiological activities of mammals. The intracellular copper concentration is meticulously regulated to maintain extremely low levels through homeostatic regulation. Excessive accumulation of free copper in cells can have deleterious effects, as observed in conditions such as Wilson's disease.
View Article and Find Full Text PDFChemistryOpen
September 2023
Key Laboratory of Flexible Electronics (KLOFE) &, Institute of Advanced Materials (IAM) Jiangsu National Synergetic Innovation Center for, Advanced Materials (SICAM), Nanjing Tech University, Nanjing, 211816, China.
iScience
October 2023
Department DiBEST (Biologia, Ecologia, Scienze della Terra) Unit of Biochemistry and Molecular Biotechnology, University of Calabria, 87036 Arcavacata di Rende, Italy.
LAT1 (SLC7A5) is one of the most studied membrane transporters due to its relevance to physiology in supplying essential amino acids to brain and fetus, and to pathology being linked to nervous or embryo alterations; moreover, LAT1 over-expression is always associated with cancer development. Thus, LAT1 is exploited as a pro-drug vehicle and as a target for anti-cancer therapy. We here report the identification of a new substrate with pathophysiological implications, i.
View Article and Find Full Text PDFGene
November 2023
Ecophysiological and Environmental Toxicological Research Group, Balaton Limnological Research Institute, H-8237 Tihany, Hungary.
Copper-transporting ATPases are a group of heavy metal-transporting proteins and which can be found in all living organisms. In animals, they are generally referred to as ATP7 proteins and are involved in many different physiological processes including the maintaining of copper homeostasis and the supply of copper to cuproenzymes. A single ATP7 gene is present in non-chordate animals while it is divided into ATP7A and ATP7B in chordates.
View Article and Find Full Text PDFAnalyst
September 2023
Department of Medicinal Chemistry, National Institute of Pharmaceutical Education and Research, Raebareli, Transit Campus Lucknow, UP, India.
Copper is one of the most important transition metals in our body for various physiological functions. An imbalance in the homeostasis of copper in our body can lead to various neurological disorders such as Alzheimer's disease, Parkinson's, and Menkes disease. As a result, there is a need for the detection of excess copper present in the environment and the human system.
View Article and Find Full Text PDFPediatr Res
January 2024
Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.
Bioorg Chem
October 2023
School of Water Conservancy and Environment, University of Jinan, Jinan 250022, China.
The amount of copper ions in the environment has an immediate effect on ecology and food safety, Menkes syndrome and Wilson's disease cause accumulation and deficiency of copper ions in the body, respectively, and neurodegenerative diseases are also closely related to copper ion levels. However, the current copper ion detection technology has a high cost, complex operation, and other disadvantages. In this study, a ratiometric fluorescent probe (RB-DH) was rationally constructed to detect copper ions by coupling benzothiazole to rhodol derivatives.
View Article and Find Full Text PDFSpectrochim Acta A Mol Biomol Spectrosc
December 2023
Electric Mobility and Tribology Research Group, CSIR-Central Mechanical Engineering Research Institute, Mahatma Gandhi Avenue, Durgapur 713209, India; Academy of Scientific and Innovative Research (AcSIR), AcSIR Headquarters CSIR-HRDC Campus, Postal Staff College Area, Sector 19, Kamla Nehru Nagar, Ghaziabad-201002, Uttar Pradesh, India. Electronic address: https://www.cmeri.res.in.
In present work a pyrene-dansyl dyad functionalized chemoreceptor, DPNS is unveiled towards ultrasensitive chromo-fluorogenic detection of heavy and transition metal ions (HTMs) like Cu and pernicious CN. It demonstrated distinct chromogenic responses; colorless to faint yellow (Cu), intense yellow (CN) from contaminant aqueous sources. Cu instigated alteration in DPNS fluorescence from feeble emission to sparkling green with LOD: 37.
View Article and Find Full Text PDFJ Inorg Biochem
October 2023
Department of Chemistry and Center CERMO-FC, Université du Québec à Montréal, C.P. 8888, Montréal, Québec H3C 3P8, Canada. Electronic address:
The deregulation of copper homoeostasis can promote various diseases such as Menkes disease or hypertrophic cardioencephalomyopathy. We have recently synthesized solid copper(II) complexes ([Cu(His)Cl] and [Cu(Ser)]), stable in physiological media and with potential as therapeutic agents. This report describes: i) the biocompatibility of these complexes at concentrations up to 100 μM using a differentiated Caco-2 cells model; ii) their transport across the intestinal epithelium using a transepithelial resistance assay and monitoring the amount of copper complexes at the apical and basolateral sides of the cells.
View Article and Find Full Text PDFHeliyon
July 2023
Department of Gastroenterology, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Objectives: To characterize the 100 most-cited articles in the field of Wilson's Disease (WD) to provide a general overview and reveal the historical developments classical studies, and new findings.
Design: WD-related articles were searched on the Web of Science database. The 100 most-cited articles were retrieved and their descriptive statistics were analyzed.
Mol Genet Genomic Med
September 2023
Service de médecine génomique des maladies rares, AP-HP.Centre, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Int J Biol Macromol
July 2023
State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock, Institutes of Biomedical Sciences, School of Life Sciences, Inner Mongolia University, Hohhot 010021, China; Inner Mongolia International Mongolian Hospital, Hohhot 010065, China; Digital College, Inner Mongolia Intelligent Union Big Data Academy, Hohhot 010010, China. Electronic address:
Copper ion-binding proteins play an essential role in metabolic processes and are critical factors in many diseases, such as breast cancer, lung cancer, and Menkes disease. Many algorithms have been developed for predicting metal ion classification and binding sites, but none have been applied to copper ion-binding proteins. In this study, we developed a copper ion-bound protein classifier, RPCIBP, which integrating the reduced amino acid composition into position-specific scoring matrix (PSSM).
View Article and Find Full Text PDFJ Clin Neuromuscul Dis
June 2023
Department of Neurology, Rutgers New Jersey Medical School.
The Neonatal Fc Receptor (FcRn) is integral to a wide variety of processes including IgG recycling, serum albumin turnover, and bacterial opsonization. Thus, targeting FcRn will increase antibody degradation including pathogenic IgGs. FcRn inhibition provides a novel therapeutic mechanism by which autoantibody titers are reduced resulting in clinical improvement and disease abatement.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
June 2023
Children's Medical Center, the Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524001, China.
J Vis Exp
April 2023
Department of Hepatology and Gastroenterology, Aarhus University Hospital.
Copper is an essential trace element, functioning in catalysis and signaling in biological systems. Radiolabeled copper has been used for decades in studying basic human and animal copper metabolism and copper-related disorders, such as Wilson disease (WD) and Menke's disease. A recent addition to this toolkit is 64-copper (Cu) positron emission tomography (PET), combining the accurate anatomical imaging of modern computed tomography (CT) or magnetic resonance imaging (MRI) scanners with the biodistribution of the Cu PET tracer signal.
View Article and Find Full Text PDFFront Oncol
March 2023
Department of Nutrition and Health, China Agricultural University, Beijing, China.
Copper is an essential micronutrient for human body and plays a vital role in various biological processes including cellular respiration and free radical detoxification. Generally, copper metabolism in the body is in a stable state, and there are specific mechanisms to regulate copper metabolism and maintain copper homeostasis. Dysregulation of copper metabolism may have a great connection with various types of diseases, such as Wilson disease causing copper overload and Menkes disease causing copper deficiency.
View Article and Find Full Text PDFJ Assist Reprod Genet
April 2023
Department of Genetics, Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark.
Front Genet
March 2023
Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
Menkes disease is an X-linked recessive condition caused by mutations in the gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the gene, characterized by increased urinary excretion of specific N-acetyl amino acids. We report an infant with neurological findings such as seizures, neurodevelopmental delay and hypotonia.
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