Review
Cell Biology
Som Dev, Robert L. Kruse, James P. Hamilton, Svetlana Lutsenko
Summary: This review summarizes recent advances in the characterization of Wilson disease pathophysiology and discusses emerging targets for improving diagnosis and treatment.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Medicine, General & Internal
Grazyna Gromadzka, Marta Grycan, Adam M. Przybylkowski
Summary: Wilson's disease (WND) is a genetic disorder affecting copper metabolism. Multiple diagnostic tools are available to diagnose and monitor WND. Laboratory tests for copper metabolism disorders play a significant role in diagnosis.
Review
Biochemistry & Molecular Biology
Ralf Weiskirchen, Louis C. Penning
Summary: Copper, an essential trace element for life, is implicated in genetic copper storage diseases like Wilson disease and Menkes disease. The discovery of COMMD1 gene product in 2002 led to studies uncovering its multiple interactions and functions, potentially affecting hepatic copper handling via interactions with ATP7B.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
R. G. Barber, Zoey A. Grenier, Jason L. Burkhead
Summary: This article discusses the impact of copper toxicity on the liver, suggesting that copper accumulation specifically affects zinc-dependent processes. Copper toxicity may have specific biochemical consequences that are not directly attributable to redox activity. Further research into copper toxicity in Wilson Disease and other copper-associated disorders is encouraged.
Review
Medicine, General & Internal
Ana Lucena-Valera, Pilar Ruz-Zafra, Javier Ampuero
Summary: Wilson's disease is a rare hereditary disorder caused by a deficiency in the ATP7B transporter. It results in copper accumulation primarily in the liver, and secondarily in other organs such as the central nervous system. The disease has a wide spectrum of symptoms, ranging from asymptomatic to acute liver failure. Diagnosis requires a combination of clinical signs, symptoms, and diagnostic tests. Treatment involves lifelong maintenance with chelating agents and copper absorption inhibitors, and liver transplant may be an option for end-stage liver disease patients.
Review
Biochemistry & Molecular Biology
Bryce Blades, Scott Ayton, Ya Hui Hung, Ashley Bush, Sharon La Fontaine
Summary: The complex and inverse relationship between copper and lipid metabolism has implications for diseases involving dyslipidemia. Understanding these pathways may provide druggable targets for therapeutic intervention. Tissue-specific roles of the copper regulatory protein ATP7B further elucidate the association between copper and lipid metabolism.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
(2021)
Review
Clinical Neurology
Danilo Tornabene, Paola Bini, Matteo Gastaldi, Elisa Vegezzi, Carlo Asteggiano, Enrico Marchioni, Luca Diamanti
Summary: This study aims to investigate the presentation, complications, management, and outcomes of copper deficiency-induced neurological pathologies due to Wilson disease overtreatment. A literature review identified 10 additional cases of neurological pathology resulting from copper deficiency in the context of Wilson disease over-treatment, with myelopathy and peripheral neuropathy being the most common complications.
NEUROLOGICAL SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Grazyna Gromadzka, Diana Wierzbicka, Tomasz Litwin, Adam Przybylkowski
Summary: Wilson's disease is a rare hereditary disorder of copper metabolism, and this study found that changes in copper metabolism are associated with changes in iron metabolism. Anti-copper treatment in Wilson's disease patients can improve but not completely normalize iron metabolism.
Article
Engineering, Biomedical
Muhammad Ismail, Wen Yang, Yanfei Li, Yibin Wang, Wenya He, Jiefei Wang, Pir Muhammad, Timothy B. Chaston, Fawad Ur Rehman, Meng Zheng, David B. Lovejoy, Bingyang Shi
Summary: The use of biomimetic nanoparticles can overcome the toxicity limitations of copper chelators in the treatment of GBM and enhance the therapeutic effect by increasing selectivity. Pre-loading tumors with copper further improves selectivity. Targeting GBM cells and modulating the apoptotic pathway can effectively suppress GBM growth.
Article
Chemistry, Medicinal
Bengisu Turgutalp, Prabesh Bhattarai, Tugba Ercetin, Chiara Luise, Rengin Reis, Enise Ece Gurdal, Andreas Isaak, Derya Biriken, Elisabeth Dinter, Hande Sipahi, Dirk Schepmann, Anna Junker, Bernhard Wunsch, Wolfgang Sippl, Hayrettin Ozan Gulcan, Caghan Kizil, Mine Yarim
Summary: This study developed a multi-target-directed ligand based on cholinesterase inhibition for the treatment of Alzheimer's disease (AD). Nine potential drug candidates that met drug-like criteria and showed no toxicity were identified among a library of 70 compounds. In cellular models, seven compounds exhibited cytoprotective activity. Some compounds demonstrated better synaptic protection in a zebrafish model compared to the traditional drug.
JOURNAL OF MEDICINAL CHEMISTRY
(2022)
Article
Chemistry, Physical
Brunella Biscussi, Maria Alejandra Sequeira, Victoria Richmond, Pau Arroyo Manez, Ana Paula Murray
Summary: In this study, a series of azoderivatives were designed and synthesized as AChE inhibitors, with one compound showing high enzymatic response and stable photostationary state, serving as an efficient photo probe for remote control of AChE activity. Molecular modelling analysis revealed the compound's affinity for the peripheral anionic site of AChE, contributing to the development of promising agents for photopharmacological treatment of Alzheimer's disease.
JOURNAL OF PHOTOCHEMISTRY AND PHOTOBIOLOGY A-CHEMISTRY
(2021)
Article
Pediatrics
Aabha Nagral, Snehal Mallakmir, Nikita Garg, Kritika Tiwari, Suzena Masih, Nishtha Nagral, Ojas Unavane, Ajay Jhaveri, Shubha Phadke, GaneshPrasad ArunKumar, Rakesh Aggarwal
Summary: This study reports genotype data of Wilson disease patients from India, adding to the available spectrum of causative variants in ATP7B gene. It also found genetic and phenotypic diversity in the Indian population.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Medicine, General & Internal
Zifan Ye, Xiuhua Jia, Xin Liu, Qi Zhang, Kaijun Wang, Min Chen
Summary: This article reports the first case of concurrent Wilson disease (WD) and retinitis pigmentosa (RP). Through case analysis and genetic sequencing, the possible relationship between the two disorders is revealed.
FRONTIERS IN MEDICINE
(2022)
Article
Neurosciences
Jayantee Kalita, Vijay Kumar, Vasudev Parashar, Usha K. Misra
Summary: The study aimed to identify neuropsychiatric manifestations in neurological Wilson disease, correlating with MRI changes and glutamate excitotoxicity. Various neurobehavioral abnormalities were common in these patients, correlated with the location of MRI lesion and glutamate level.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Clinical Neurology
Barbara Redzia-Ogrodnik, Anna Czlonkowska, Agnieszka Antos, Jan Bembenek, Iwona Kurkowska-Jastrzebska, Adam Przybylkowski, Marta Skowronska, Lukasz Smolinski, Tomasz Litwin
Summary: Wilson's disease (WD) is a treatable genetic disorder caused by impaired copper metabolism. Brain magnetic resonance imaging (MRI) is used for diagnosis and treatment monitoring. The frequency and significance of potential brain MRI pathognomonic signs for WD were analyzed in a large cohort of patients. These signs occurred relatively rarely and were most often found in patients with early onset and severe neurological symptoms, improving the diagnosis of WD. However, these signs are not truly pathognomonic of WD as they can also be found in other disorders.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Anatomy & Morphology
Poornapriya Ramamurthy, Joshua B. White, Joong Yull Park, Richard I. Hume, Fumi Ebisu, Flor Mendez, Shuichi Takayama, Kate F. Barald
DEVELOPMENTAL DYNAMICS
(2017)
Article
Biochemistry & Molecular Biology
Sukanya Punthambaker, Jacob A. Blum, Richard I. Hume
JOURNAL OF BIOLOGICAL CHEMISTRY
(2012)
Article
Neurosciences
Sean E. Low, Joel Ryan, Shawn M. Sprague, Hiromi Hirata, Wilson W. Cui, Weibin Zhou, Richard I. Hume, John Y. Kuwada, Louis Saint-Amant
JOURNAL OF NEUROSCIENCE
(2010)
Article
Neurosciences
Sean E. Low, Kimberly Amburgey, Eric Horstick, Jeremy Linsley, Shawn M. Sprague, Wilson W. Cui, Weibin Zhou, Hiromi Hirata, Louis Saint-Amant, Richard I. Hume, John Y. Kuwada
JOURNAL OF NEUROSCIENCE
(2011)
Article
Neurosciences
Chakib Mouslim, Mohamed Aittaleb, Richard I. Hume, Mohammed Akaaboune
JOURNAL OF NEUROSCIENCE
(2012)
Article
Neurosciences
Bibhudatta Mishra, Ross Carson, Richard I. Hume, Catherine A. Collins
JOURNAL OF NEUROSCIENCE
(2013)
Article
Multidisciplinary Sciences
Shlomo S. Dellal, Richard I. Hume
Article
Biochemistry & Molecular Biology
Xin Xiong, Yan Hao, Kan Sun, Jiaxing Li, Xia Li, Bibhudatta Mishra, Pushpanjali Soppina, Chunlai Wu, Richard I. Hume, Catherine A. Collins
Article
Neurosciences
Yan Hao, Thomas J. Waller, Derek M. Nye, Jiaxing Li, Yanxiao Zhang, Richard I. Hume, Melissa M. Rolls, Catherine A. Collins
JOURNAL OF NEUROSCIENCE
(2019)
Article
Physiology
I-Uen Hsu, Jeremy W. Linsley, Lilly E. Reid, Richard I. Hume, Ari Leflein, John Y. Kuwada
FRONTIERS IN PHYSIOLOGY
(2020)
Article
Biochemistry & Molecular Biology
Meiqin Hu, Ping Li, Ce Wang, Xinghua Feng, Qi Geng, Wei Chen, Matangi Marthi, Wenlong Zhang, Chenlang Gao, Whitney Reid, Joel Swanson, Wanlu Du, Richard Hume, Haoxing Xu
Summary: A genetic risk factor for Parkinson's disease, TMEM175, acts as a proton-activated, proton-selective channel on the lysosomal membrane to regulate lysosomal H+ leak. Activation of TMEM175 stops further acidification of lysosomes beyond the normal range. Deficiency of TMEM175 causes lysosomal over-acidification, impaired proteolytic activity, and facilitates alpha-synuclein aggregation.
Article
Multidisciplinary Sciences
I-Uen Hsu, Jeremy W. Linsley, Xiaoli Zhang, Jade E. Varineau, Drew A. Berkhoudt, Lilly E. Reid, Miranda C. Lum, Allison M. Orzel, Ari Leflein, Haoxing Xu, Catherine A. Collins, Richard I. Hume, Edwin S. Levitan, John Y. Kuwada
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Multidisciplinary Sciences
Ping Li, Meiqin Hu, Ce Wang, Xinghua Feng, ZhuangZhuang Zhao, Ying Yang, Nirakar Sahoo, Mingxue Gu, Yexin Yang, Shiyu Xiao, Rajan Sah, Timothy L. Cover, Janet Chou, Raif Geha, Fernando Benavides, Richard I. Hume, Haoxing Xu
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Developmental Biology
Sean E. Low, Weibin Zhou, Ingxin Choong, Louis Saint-Amant, Shawn M. Sprague, Hiromi Hirata, Wilson W. Cui, Richard I. Hume, John Y. Kuwada
DEVELOPMENTAL NEUROBIOLOGY
(2010)
Correction
Neurosciences
Lucia Privitera, Ellen L. Hogg, Matthias Gaestel, Mark J. Wall, Sonia A. L. Correa
Article
Neurosciences
Li-Ya Jiang, Guan-Hao Wang, Jing-Jiao Xu, Xiao-Li Li, Xiao-Yan Lin, Xiang Fang, Hong-Xu Zhang, Mei Feng, Chun-Ming Jiang
Summary: This study reveals the importance of LINC00473 in regulating temozolomide (TMZ) resistance in glioblastoma (GB) and its potential mechanism. By regulating the expression of CEBP alpha and MGMT, LINC00473 promotes the formation of chemoresistance. Furthermore, LINC00473 can transfer chemoresistance to adjacent sensitive cells through exosomes.
Article
Neurosciences
Olga Kopach, Tetyana Pivneva, Nataliya Fedirko, Nana Voitenko
Summary: This study found that diabetic animals exhibit severe xerostomia characterized by reduced saliva flow rate, diminished total protein content, and decreased amylase activity. The impaired saliva production in diabetes is associated with reduced and delayed intracellular Ca2+ signals in submandibular acinar cells, caused by malfunctioning mitochondria. Targeting malfunctioning mitochondria may be a potential strategy for the treatment of diabetic xerostomia.
Article
Neurosciences
Nicholas M. Timme, Cherish E. Ardinger, Seth D. C. Weir, Rachel Zelaya-Escobar, Rachel Kruger, Christopher C. Lapish
Summary: This study aimed to assess aversion-resistant drinking behavior in head-fixed mice and explore the relationship between non-consummatory behaviors and aversion-resistant drinking. The results showed that head-fixed mice exhibited heterogenous levels of aversion-resistant drinking and non-consummatory behaviors were related to the intensity of this behavior.
Article
Neurosciences
David R. Maguire, Charles P. France
Summary: Methocinnamox (MCAM) is a novel, long-acting opioid receptor antagonist that effectively decreases fentanyl self-administration and prevents opioid overdose in monkeys. The study demonstrates the potential therapeutic utility of MCAM in the treatment of opioid use disorder.
Article
Neurosciences
Xiang Li, Dan Feng, Shenglu Ma, Mingxing Li, Shulei Zhao, Man Tang
Summary: This study investigated the effects of fluoxetine on neurochemical, neurobiological, and neurobehavioral changes in different subregions of the hippocampus. The results showed that fluoxetine increased dialysate 5-HT, decreased membrane 5-HTT protein, and increased cytoplasmic fraction. Additionally, fluoxetine reduced immobility times in behavioral tests, with greater effects observed in the ventral subregion compared to the dorsal subregion.
Article
Neurosciences
Alexander V. Zholos, Mariia I. Melnyk, Dariia O. Dryn
Summary: Acetylcholine is an important neurotransmitter in visceral smooth muscles, activating M2 and M3 muscarinic receptors to cause smooth muscle excitation and contraction. This review focuses on the cellular and molecular mechanisms underlying acetylcholine-induced depolarisation and smooth muscle contraction, as well as the effects of anticholinergic drugs on gastrointestinal motility. The knowledge gained from recent studies has greatly expanded our understanding of these processes.
Article
Neurosciences
Zhenlong Li, Hsien-Yu Peng, Chau-Shoun Lee, Tzer-Bin Lin, Ming-Chun Hsieh, Cheng-Yuan Lai, Han-Fang Wu, Lih-Chyang Chen, Mei-Ci Chen, Dylan Chou
Summary: Methylone shows significant efficacy in treating depression and social deficits, making it an ideal candidate for anti-depressant medication.
Article
Neurosciences
Aline Freyssin, Allison Carles, Sarra Guehairia, Gilles Rubinstenn, Tangui Maurice
Summary: This study explores the potential of combining FENM and S1R agonists in the treatment of Alzheimer's disease. The results showed that most FENM-based combinations can protect against learning deficits caused by A beta 25-35, with better efficacy in short-term memory.
Article
Neurosciences
J. D. Lorente, J. Cuitavi, L. Rullo, S. Candeletti, P. Romualdi, L. Hipolito
Summary: This study analyzed the effects of pain on negative affect in different sexes and time courses, as well as the involvement of the dynorphinergic and corticotropin releasing factor systems in these pain-related behaviors. The results showed sex and time-dependent anxiety- and anhedonia-like behaviors induced by pain in female rats. The recruitment of KOR/DYN in the NAc was identified as a key neurological substrate mediating pain-induced behavioral alterations.
Article
Neurosciences
Rongjun Liu, Daofan Sun, Xiuzhong Xing, Qingge Chen, Bo Lu, Bo Meng, Hui Yuan, Lan Mo, Liufang Sheng, Jinwei Zheng, Qiusheng Wang, Junping Chen, Xiaowei Chen
Summary: The coexistence of pain and depression is frequently observed in patients with chronic pain and depression. Oxytocin, a neuropeptide, has been reported to relieve chronic pain and depressive symptoms. This study investigated the effect of intranasal oxytocin on neuropathic pain and comorbid depressive symptoms, and found that oxytocin attenuated depression-like behavior but did not alleviate mechanical hyperalgesia. The results suggest that intranasal oxytocin may have the potential to treat depressive symptoms in neuropathic pain patients.