Read by QxMD icon Read

menkes disease

Ricarda A L Menke, Federica Agosta, Julian Grosskreutz, Massimo Filippi, Martin R Turner
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative, clinically heterogeneous syndrome pathologically overlapping with frontotemporal dementia. To date, therapeutic trials in animal models have not been able to predict treatment response in humans, and the revised ALS Functional Rating Scale, which is based on coarse disability measures, remains the gold-standard measure of disease progression. Advances in neuroimaging have enabled mapping of functional, structural, and molecular aspects of ALS pathology, and these objective measures may be uniquely sensitive to the detection of propagation of pathology in vivo...
October 17, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Tasneem Kaleem, Jennifer A Crozier, David M Menke, Taimur Sher
Post-transplant lymphoproliferative disorders (PTLD) are a serious complication of transplantation with a high mortality. Most PTLD present within the first year of transplantation and are associated with Epstein-Barr virus (EBV) infection. Plasmablastic lymphoma (PBL) is a rare but aggressive disease originally described in patients with HIV, presenting most commonly in the jaw and oral mucosa. To our knowledge, this is the first case of PBL presenting as PTLD of the lung in a HIV and EBV negative patient...
September 5, 2016: Rare Tumors
Tim Stobernack, Corinna Glasner, Sabryna Junker, Giorgio Gabarrini, Menke de Smit, Anne de Jong, Andreas Otto, Dörte Becher, Arie Jan van Winkelhoff, Jan Maarten van Dijl
Porphyromonas gingivalis is an oral pathogen associated with the inflammatory disease periodontitis. Periodontitis and P. gingivalis¬ have been associated with rheumatoid arthritis. One of the hallmarks of rheumatoid arthritis is the loss of tolerance against citrullinated proteins. Citrullination is a post-translational modification of arginine residues, leading to a change in structure and function of the respective protein. This modification, which is catalysed by peptidylarginine deiminases (PAD), plays a role in several physiological processes in the human body...
October 7, 2016: Journal of Proteome Research
Shu-Chao Weng, Chyong-Hsin Hsu, Nien-Lu Wang, Shuan-Pei Lin, Chuen-Bin Jiang
BACKGROUND: Menkes disease (MD) is a disorder of copper metabolism due to ATP7A gene mutation that leads to severe copper deficiency. Deformed blood vessels can be found in many parts of the body, and intracranial hematoma is generally reported. METHODS: We report a Taiwanese boy with MD who had recurrent spontaneous subserosal hematoma of ileum presenting as intestinal obstruction, with the 2 episodes 23 months apart. The patient returned to the usual physical status after surgical removal of the hematoma...
September 2016: Medicine (Baltimore)
Miyuki Kinebuchi, Akihiro Matsuura, Tohru Kiyono, Yumiko Nomura, Sachiko Kimura
Copper (Cu) is an indispensable metal for normal development and function of humans, especially in central nervous system (CNS). However, its redox activity requires accurate Cu transport system. ATP7A, a main Cu(2+) transporting-ATPase, is necessary to efflux Cu across the plasma membrane and synthesize cuproenzymes. Menkes disease (MD) is caused by mutations in ATP7A gene. Clinically, MD is Cu deficiency syndrome and is treated with Cu-histidine injections soon after definite diagnosis. But outcome of the most remains poor...
2016: Scientific Reports
Malgorzata Lenartowicz, Torben Moos, Mateusz Ogórek, Thomas G Jensen, Lisbeth B Møller
Deficiency of one of the copper transporters ATP7A and ATP7B leads to the rare X-linked disorder Menkes Disease (MD) or the rare autosomal disorder Wilson disease (WD), respectively. In order to investigate whether the ATP7A and the ATP7B genes may be transcriptionally regulated, we measured the expression level of the two genes at various concentrations of iron, copper, and insulin. Treating fibroblasts from controls or from individuals with MD or WD for 3 and 10 days with iron chelators revealed that iron deficiency led to increased transcript levels of both ATP7A and ATP7B...
2016: Frontiers in Molecular Neuroscience
Rahul Ojha, Asuri N Prasad
Disorders of copper homeostasis are currently recognized across the life span. Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease")...
2016: Journal of Multidisciplinary Healthcare
Sarah S Casagrande, Andy Menke, Catherine C Cowie
BACKGROUND: The health of younger adults in the U.S. has important public health and economic-related implications. However, previous literature is insufficient to fully understand how the health of this group has changed over time. This study examined generational differences in cardiovascular risk factors of younger adults over the past 40 years. METHODS: Data were from 6 nationally representative cross-sectional National Health and Nutrition Examination Surveys (1971-2012; N = 44,670)...
2016: PloS One
C Willemien Menke-van der Houven van Oordt, Carlos Gomez-Roca, Carla van Herpen, Andrew L Coveler, Devalingam Mahalingam, Henk M W Verheul, Winette T A van der Graaf, Randolph Christen, Dominik Rüttinger, Stefan Weigand, Michael A Cannarile, Florian Heil, Michael Brewster, Antje-Christine Walz, Tapan K Nayak, Ernesto Guarin, Valerie Meresse, Christophe Le Tourneau
Transmembrane glycoprotein CD44 is overexpressed in various malignancies. Interactions between CD44 and hyaluronic acid are associated with poor prognosis, making CD44 an attractive therapeutic target. We report results from a first-in-human phase I trial of RG7356, a recombinant anti-CD44 immunoglobulin G1 humanized monoclonal antibody, in patients with advanced CD44-expressing solid malignancies.Sixty-five heavily pretreated patients not amenable to standard therapy were enrolled and received RG7356 intravenously biweekly (q2w) or weekly (qw) in escalating doses from 100 mg to 2,250 mg...
August 5, 2016: Oncotarget
Logan G Spector, Jeremiah S Menk, Jeffrey M Vinocur, Matthew E Oster, Brian A Harvey, James D St Louis, James Moller, Lazaros K Kochilas
BACKGROUND: The long-term outcomes of patients undergoing interventions for congenital heart disease (CHD) remain largely unknown. We linked the Pediatric Cardiac Care Consortium (PCCC) with the National Death Index (NDI) and the United Network for Organ Sharing Dataset (UNOS) registries to study mortality and transplant occurring up to 32 years postintervention. The objective of the current analysis was to determine the sensitivity of this linkage in identifying patients who are known to have died or undergone heart transplant...
2016: Journal of the American Heart Association
Deborah D Roman, Erin G Holker, Emil Missov, Monica M Colvin, Jeremiah Menk
OBJECTIVE: This study provides age stratified neuropsychological test data for a large sample of heart transplant candidates. Patients with and without neurological co-morbidities were compared to better isolate the effects of congestive heart failure (CHF) on brain functioning. METHOD: Between 1988 and 2011, 956 patients (717 males, 239 females) with end-stage CHF and other life threatening cardiac diseases underwent neuropsychological assessment as a requirement of the heart transplant workup...
August 5, 2016: Clinical Neuropsychologist
Marc Solioz
The nineties witnessed the discovery of the copper ATPases, enzymes which transport copper across the cytoplasmic membranes of bacteria and eukaryotes. In the same decade, several other key components of copper homeostasis have also been discovered, like copper chaperones and plasma membrane copper transporters. This has finally led to a molecular understanding of two inherited human diseases related to copper: Menkes disease, manifested by systemic copper deficiency, and Wilson disease, caused by defective secretion of excess copper...
September 1, 2016: Metallomics: Integrated Biometal Science
José M Argüello, Sarju J Patel, Julia Quintana
The early discovery of the human Cu(+)-ATPases and their link to Menkes and Wilson's diseases brought attention to the unique role of these transporters in copper homeostasis. The characterization of bacterial Cu(+)-ATPases has significantly furthered our understanding of the structure, selectivity and transport mechanism of these enzymes, as well as their interplay with other elements of Cu(+) distribution networks. This review focuses on the structural-functional insights that have emerged from studies of bacterial Cu(+)-ATPases at the molecular level and how these observations have contributed to drawing up a comprehensive picture of cellular copper homeostasis...
September 1, 2016: Metallomics: Integrated Biometal Science
Norikazu Shimizu
Copper is one of essential trace elements. Copper deficiency lead to growth and developmental failure and/or neurological dysfunction. However, excess copper is also problems for human life. There are two disorders of inborn error of copper metabolism, Menkes disease and Wilson disease. Menkes disease is an X linked recessive disorder with copper deficiency and Wilson disease is an autosomal recessive disorder with copper accumulation. These both disorders result from the defective functioning of copper transport P-type ATPase, ATP7A of Menkes disease and ATP7B of Wilson disease...
July 2016: Nihon Rinsho. Japanese Journal of Clinical Medicine
Julian F B Mercer, James Camakaris
When we were asked to produce articles for this volume, it seemed appropriate to us to co-author an article on the history and impact of copper research in Melbourne. It is appropriate because over many years, decades in fact, we worked closely together and with Professor David Danks to identify the molecular defect in Menkes disease. This work was always carried out with the intention of understanding the nature of the copper homeostatic mechanisms and a "copper pathway" in the cell, that David had the prescience to predict must exist despite scepticism from granting agencies! He indeed inspired us to pursue research careers in this field...
September 1, 2016: Metallomics: Integrated Biometal Science
M A Greenough, A Ramírez Munoz, A I Bush, C M Opazo
Copper is an essential metal ion that provides catalytic function to numerous enzymes and also regulates neurotransmission and intracellular signaling. Conversely, a deficiency or excess of copper can cause chronic disease in humans. Menkes and Wilson disease are two rare heritable disorders of copper transport that are characterized by copper deficiency and copper overload, respectively. Changes to copper status are also a common feature of several neurodegenerative disorders including Alzheimer's disease (AD), Parkinson's disease (PD) and Amyotrophic lateral sclerosis (ALS)...
September 1, 2016: Metallomics: Integrated Biometal Science
Florian E Buisman, Linda van Gelder, Marian B E Menke-Pluijmers, Bob H C Bisschops, Peter W Plaisier, Pieter J Westenend
BACKGROUND: Breast cancer is a common malignancy, but metastases to the breast of extramammary malignancies are very rare. Treatment and prognosis are different. The aim of the study is to report the incidence of lymphomas and metastases to the breast of extramammary malignancies in our 30-year archive. METHODS: The pathology database of a single institute was reviewed for all breast neoplasms which were coded in our system as a metastasis in the period 1985-2014...
2016: World Journal of Surgical Oncology
Sha Zhu, Vinit Shanbhag, Victoria L Hodgkinson, Michael J Petris
The ATP7A protein is a ubiquitous copper-transporting P-type ATPase that is mutated in the lethal pediatric disorder of copper metabolism, Menkes disease. The steady-state location of ATP7A is within the trans-Golgi network (TGN), where it delivers copper to copper-dependent enzymes within the secretory pathway. However, ATP7A constantly cycles between the TGN and the plasma membrane, and in the presence of high copper concentrations, the exocytic arm of this cycling pathway is enhanced to promote a steady-state distribution of ATP7A to post-Golgi vesicles and the plasma membrane...
September 1, 2016: Metallomics: Integrated Biometal Science
Matthew Haas, Jon Menke, Shiaoman Chao, Brian J Steffenson
This research characterized the genetics of resistance of wild barley accession PI 466423 to a widely virulent pathotype of Cochliobolus sativus . Breeding lines were identified that combine the Midwest Six-rowed Durable Resistance Haplotype and resistance to the virulent isolate ND4008. Spot blotch, caused by Cochliobolus sativus, is a historically important foliar disease of barley (Hordeum vulgare L.) in the Upper Midwest region of the USA. However, for the last 50 years this disease has been of little consequence due to the deployment of resistant six-rowed malting cultivars...
October 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Michal Rolinski, Ludovica Griffanti, Paola Piccini, Andreas A Roussakis, Konrad Szewczyk-Krolikowski, Ricarda A Menke, Timothy Quinnell, Zenobia Zaiwalla, Johannes C Klein, Clare E Mackay, Michele T M Hu
SEE POSTUMA DOI101093/AWW131 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Resting state functional magnetic resonance imaging dysfunction within the basal ganglia network is a feature of early Parkinson's disease and may be a diagnostic biomarker of basal ganglia dysfunction. Currently, it is unclear whether these changes are present in so-called idiopathic rapid eye movement sleep behaviour disorder, a condition associated with a high rate of future conversion to Parkinson's disease. In this study, we explore the utility of resting state functional magnetic resonance imaging to detect basal ganglia network dysfunction in rapid eye movement sleep behaviour disorder...
August 2016: Brain: a Journal of Neurology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"