keyword
MENU ▼
Read by QxMD icon Read
search

menkes disease

keyword
https://www.readbyqxmd.com/read/29599289/interaction-between-the-aaa-atpase-p97-vcp-and-a-concealed-ubx-domain-in-the-copper-transporter-atp7a-is-associated-with-motor-neuron-degeneration
#1
Ling Yi, Stephen G Kaler
The copper-transporting ATPase ATP7A contains eight transmembrane domains and is required for normal human copper homeostasis. Mutations in the ATP7A gene may lead to infantile-onset cerebral degeneration (Menkes disease); occipital horn syndrome (OHS), a related but much milder illness; or an adult-onset isolated distal motor neuropathy. The ATP7A missense mutation T994I is located in the sixth transmembrane domain of ATP7A, represents one of the variants associated with the latter phenotype, and is associated with an abnormal interaction with p97/valosin-containing protein (VCP), a hexameric AAA ATPase (ATPase associated with diverse cellular activities) with multiple biological functions...
March 29, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29596402/prevalence-of-diagnosed-diabetes-in-adults-by-diabetes-type-united-states-2016
#2
Kai McKeever Bullard, Catherine C Cowie, Sarah E Lessem, Sharon H Saydah, Andy Menke, Linda S Geiss, Trevor J Orchard, Deborah B Rolka, Giuseppina Imperatore
Currently 23 million U.S. adults have been diagnosed with diabetes (1). The two most common forms of diabetes are type 1 and type 2. Type 1 diabetes results from the autoimmune destruction of the pancreas's beta cells, which produce insulin. Persons with type 1 diabetes require insulin for survival; insulin may be given as a daily shot or continuously with an insulin pump (2). Type 2 diabetes is mainly caused by a combination of insulin resistance and relative insulin deficiency (3). A small proportion of diabetes cases might be types other than type 1 or type 2, such as maturity-onset diabetes of the young or latent autoimmune diabetes in adults (3)...
March 30, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29589209/nucleated-red-blood-cells-as-predictors-of-mortality-in-patients-with-acute-respiratory-distress-syndrome-ards-an-observational-study
#3
Mario Menk, Lena Giebelhäuser, Gerald Vorderwülbecke, Martina Gassner, Jan A Graw, Björn Weiss, Mathias Zimmermann, Klaus-D Wernecke, Steffen Weber-Carstens
BACKGROUND: Nucleated red blood cells (NRBCs) in critically ill patients are associated with increased mortality and poor outcome. The aim of the present study was to evaluate the predictive value of NRBCs in patients with acute respiratory distress syndrome (ARDS). METHODS: This observational study was conducted at an ARDS referral center and included patients from 2007 to 2014. Daily NRBC counts were assessed and the predictive validity of NRBCs on mortality was statistically evaluated...
March 27, 2018: Annals of Intensive Care
https://www.readbyqxmd.com/read/29575082/somatic-sprouts-of-the-purkinje-cells-in-a-patient-with-multiple-system-atrophy
#4
Kenji Sakai, Chiho Ishida, Yuko Kato-Motozaki, Atsuro Tagami, Kiyonobu Komai, Masahito Yamada
We describe the post mortem case of a 71-year-old Japanese woman diagnosed as having multiple system atrophy (MSA), showing somatic sprouting formation of Purkinje cells. The patient had suffered from frequent falling episodes and clumsiness of the left hand since the age of 67 years. Orthostatic hypotension and parkinsonism subsequently emerged. Typical neuropathological features of MSA, including degeneration of the striatum, pontine base and cerebellum with abundance of phosphorylated α-synuclein-positive neuronal and glial cytoplasmic and nuclear inclusions in the brain, were observed...
March 25, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29529995/dissecting-the-pathobiology-of-altered-mri-signal-in-amyotrophic-lateral-sclerosis-a-post-mortem-whole-brain-sampling-strategy-for-the-integration-of-ultra-high-field-mri-and-quantitative-neuropathology
#5
Menuka Pallebage-Gamarallage, Sean Foxley, Ricarda A L Menke, Istvan N Huszar, Mark Jenkinson, Benjamin C Tendler, Chaoyue Wang, Saad Jbabdi, Martin R Turner, Karla L Miller, Olaf Ansorge
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a clinically and histopathologically heterogeneous neurodegenerative disorder, in which therapy is hindered by the rapid progression of disease and lack of biomarkers. Magnetic resonance imaging (MRI) has demonstrated its potential for detecting the pathological signature and tracking disease progression in ALS. However, the microstructural and molecular pathological substrate is poorly understood and generally defined histologically...
March 13, 2018: BMC Neuroscience
https://www.readbyqxmd.com/read/29514093/il-23-and-il-1%C3%AE-drive-human-th17-cell-differentiation-and-metabolic-reprogramming-in-absence-of-cd28-costimulation
#6
Shankar Revu, Jing Wu, Matthew Henkel, Natalie Rittenhouse, Ashley Menk, Greg M Delgoffe, Amanda C Poholek, Mandy J McGeachy
Th17 cells drive autoimmune disease but also control commensal microbes. A common link among antigens from self-proteins or commensal microbiota is relatively low activation of T cell receptor (TCR) and costimulation signaling. Indeed, strong TCR/CD28 stimulation suppressed Th17 cell differentiation from human naive T cells, but not effector/memory cells. CD28 suppressed the classical Th17 transcriptional program, while inducing known Th17 regulators, and acted through an Akt-dependent mechanism. Th17 cells differentiated without CD28 were not anergic: they showed robust proliferation and maintained Th17 cytokine production following restimulation...
March 6, 2018: Cell Reports
https://www.readbyqxmd.com/read/29512148/eicosanoids-in-platelets-and-the-effect-of-their-modulation-by-aspirin-in-the-cardiovascular-system-and-beyond
#7
REVIEW
Marilena Crescente, Laura Menke, Melissa V Chan, Paul C Armstrong, Timothy D Warner
Platelets are important players in thrombosis and haemostasis with their function being modulated by mediators in the blood and the vascular wall. Among these, eicosanoids can both stimulate or inhibit platelet reactivity. Platelet cyclooxygenase (COX)-1 generated thromboxane (TX) A2 is the primary prostanoid that stimulates platelet aggregation; its action is counter-balanced by prostaglandin (PG)I2 (prostacyclin), a product of vascular COX. PGD2 , PGE2 , 12- hydroxyeicosatraenoic acid (HETE) or 15-HETE, are other prostanoid modulators of platelet activity, but some also play a role in carcinogenesis...
March 7, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29507920/multimodal-la-icp-ms-and-nanosims-imaging-enables-copper-mapping-within-photoreceptor-megamitochondria-in-a-zebrafish-model-of-menkes-disease
#8
Cheri M Ackerman, Peter K Weber, Tong Xiao, Bao Thai, Tiffani J Kuo, Emily Zhang, Jennifer Pett-Ridge, Christopher J Chang
Copper is essential for eukaryotic life, and animals must acquire this nutrient through the diet and distribute it to cells and organelles for proper function of biological targets. Indeed, mutations in the central copper exporter ATP7A contribute to a spectrum of diseases, including Menkes disease, with symptoms ranging from neurodegeneration to lax connective tissue. As such, a better understanding of the fundamental impacts of ATP7A mutations on in vivo copper distributions is of relevance to those affected by these diseases...
March 6, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29472291/outcomes-after-surgical-coronary-artery-revascularisation-in-children-with-congenital-heart-disease
#9
Kalpana Thammineni, Jeffrey M Vinocur, Brian Harvey, Jeremiah S Menk, Michael Scott Kelleman, Anna-Maria Korakiti, Amanda S Thomas, James H Moller, James D St Louis, Lazaros K Kochilas
OBJECTIVE: Surgical coronary revascularisation in children with congenital heart disease (CHD) is a rare event for which limited information is available. In this study, we review the indications and outcomes of surgical coronary revascularisation from the Pediatric Cardiac Care Consortium, a large US-based multicentre registry of interventions for CHD. METHODS: This is a retrospective cohort study of children (<18 years old) with CHD who underwent surgical coronary revascularisation between 1982 and 2011...
February 22, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29449045/how-to-measure-glucocorticoid-receptor-s-sensitivity-in-patients-with-stress-related-psychiatric-disorders
#10
REVIEW
Carolin Leistner, Andreas Menke
Stress is a state of derailed homeostasis and a main environmental risk factor for psychiatric diseases. Chronic or uncontrollable stress may lead to a dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, which is a common feature of stress-related psychiatric disorders. One of the key mechanisms underlying a disturbed HPA axis is an impaired function of the glucocorticoid receptor (GR) with an enhanced or reduced feedback sensitivity for glucocorticoids and subsequently altered concentrations of peripheral cortisol...
February 2, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29436039/cortical-structural-involvement-and-cognitive-dysfunction-in-early-parkinson-s-disease
#11
J C Klein, M Rolinski, L Griffanti, K Szewczyk-Krolikowski, F Baig, C Ruffmann, A R Groves, R A L Menke, M T Hu, C Mackay
Magnetic resonance imaging (MRI) studies in early Parkinson's disease (PD) have shown promise in the detection of disease-related brain changes in the white and deep grey matter. We set out to establish whether intrinsic cortical involvement in early PD can be detected with quantitative MRI. We collected a rich, multi-modal dataset, including diffusion MRI, T1 relaxometry and cortical morphometry, in 20 patients with early PD (disease duration, 1.9 ± 0.97 years, Hoehn & Yahr 1-2) and in 19 matched controls...
February 13, 2018: NMR in Biomedicine
https://www.readbyqxmd.com/read/29419699/spontaneous-retroperitoneal-hemorrhage-in-menkes-disease-a-rare-case-report
#12
Chia-Huei Peng, Chyong-Hsin Hsu, Nien-Lu Wang, Hung-Chang Lee, Shuan-Pei Lin, Wai-Tao Chan, Chun-Yan Yeung, Chuen-Bin Jiang
RATIONALE: Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There is currently no cure for this disease entity, and patients with the classic form of MD usually die from complications between 6 months and 3 years of age. Intracranial hemorrhage secondary to tortuous intracranial arteries is a well-known complication of MD, but spontaneous retroperitoneal hemorrhage, to the best of our knowledge, has never been reported in a patient with MD...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29397366/rare-disease-mechanisms-identified-by-genealogical-proteomics-of-copper-homeostasis-mutant-pedigrees
#13
Stephanie A Zlatic, Alysia Vrailas-Mortimer, Avanti Gokhale, Lucas J Carey, Elizabeth Scott, Reid Burch, Morgan M McCall, Samantha Rudin-Rush, John Bowen Davis, Cortnie Hartwig, Erica Werner, Lian Li, Michael Petris, Victor Faundez
Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare disorders with proteomes from their disease-free consanguineous relatives. We use triple-SILAC mass spectrometry to quantify proteomes from human pedigrees affected by mutations in ATP7A, which cause Menkes disease, a rare neurodegenerative and neurodevelopmental disorder stemming from systemic copper depletion...
January 30, 2018: Cell Systems
https://www.readbyqxmd.com/read/29386451/-recent-trends-of-trace-element-studies-in-clinical-medicine-in-japan
#14
Hiroko Kodama
The deficiency or excess intake of trace elements, including zinc, copper, selenium and iodine, has often been reported. Zinc deficiency is often observed in infants fed breast milk with low zinc concentration, individuals administered chelating medicines, athletes and patients with diabetes mellitus, hepatic cirrhosis or nephrosis syndrome. Menkes disease is associated with severe copper deficiency, and there is no effective treatment. Deficiencies of selenium and iodine are observed in patients who receive special formulas of milk and enteral formula with low selenium and iodine concentrations, respectively...
2018: Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene
https://www.readbyqxmd.com/read/29333545/dynamic-changes-in-copper-homeostasis-and-post-transcriptional-regulation-of-atp7a-during-myogenic-differentiation
#15
Katherine E Vest, Amanda L Paskavitz, Joseph B Lee, Teresita Padilla-Benavides
Copper (Cu) is an essential metal required for activity of a number of redox active enzymes that participate in critical cellular pathways such as metabolism and cell signaling. Because it is also a toxic metal, Cu must be tightly controlled by a series of transporters and chaperone proteins that regulate Cu homeostasis. The critical nature of Cu is highlighted by the fact that mutations in Cu homeostasis genes cause pathologic conditions such as Menkes and Wilson diseases. While Cu homeostasis in highly affected tissues like the liver and brain is well understood, no study has probed the role of Cu in development of skeletal muscle, another tissue that often shows pathology in these conditions...
February 21, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29331929/sex-related-differential-response-to-dexamethasone-in-endocrine-and-immune-measures-in-depressed-in-patients-and-healthy-controls
#16
Carina Rampp, Andreas Eichelkraut, Johanna Best, Darina Czamara, Monika Rex-Haffner, Manfred Uhr, Elisabeth B Binder, Andreas Menke
Although sex differences in major depression have been reported repeatedly, the underlying mechanisms are still disputed. The rapidly changing gonadal steroid concentrations of the postpartum period or during menopause have been shown to be associated with depressive symptoms and to modulate the hypothalamic-pituitary-adrenal (HPA)-axis, which is implicated in depression. The sample comprised of 128 depressed in-patients (36.7% women) and 166 healthy controls (30.0% women). Blood was collected at baseline (at 6pm) and then 3 h as well as 21 h after ingestion of 1...
March 2018: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29325617/wilson-disease-and-related-copper-disorders
#17
Matthew T Lorincz
Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Over 500 different WD mutations throughout the ATP7B gene have been described, most of which are missense mutations. Mutations in both ATP7B alleles result in abnormal copper metabolism and subsequent toxic accumulation of copper...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29323501/the-pivotal-role-of-copper-in-neurodegeneration-a-new-strategy-for-the-therapy-of-neurodegenerative-disorders
#18
Roberta Giampietro, Francesco Spinelli, Marialessandra Contino, Nicola Antonio Colabufo
Copper is an essential trace element for the human body since it is a cofactor of several enzymes and proteins and plays a pivotal role in several biological functions (e.g., respiration, protection from oxidative damage, iron metabolism, etc.), also including the central nervous system development and functioning (e.g., synthesis of neurotransmitters, myelination, activation of neuropeptides, etc.). Therefore, copper dysmetabolism is associated with different toxic effects, mainly represented by oxidative stress, and it has been reported in many neurodegenerative disorders, such as Wilson's disease, Menkes disease, Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis...
March 5, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29321969/the-two-year-progression-of-structural-and-functional-cerebral-mri-in-amyotrophic-lateral-sclerosis
#19
R A L Menke, M Proudfoot, K Talbot, M R Turner
MRI has emerged as one of several urgently needed candidate disease progression biomarkers for the neurodegenerative disorder amyotrophic lateral sclerosis (ALS), not least due to its unique ability to non-invasively assess structural and functional cerebral pathology. We sought to identify the extent of detectable change in cerebral MRI metrics over a more prolonged period. Analysis of multi-modal MRI data was performed in a cohort of sixteen patients (13 ALS and 3 with primary lateral sclerosis) in whom it was possible to acquire six-monthly images over two years...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29112372/tuning-the-color-palette-of-fluorescent-copper-sensors-through-systematic-heteroatom-substitution-at-rhodol-cores
#20
Shang Jia, Karla M Ramos-Torres, Safacan Kolemen, Cheri M Ackerman, Christopher J Chang
Copper is an essential nutrient for sustaining life, and emerging data have expanded the roles of this metal in biology from its canonical functions as a static enzyme cofactor to dynamic functions as a transition metal signal. At the same time, loosely bound, labile copper pools can trigger oxidative stress and damaging events that are detrimental if misregulated. The signal/stress dichotomy of copper motivates the development of new chemical tools to study its spatial and temporal distributions in native biological contexts such as living cells...
November 7, 2017: ACS Chemical Biology
keyword
keyword
47216
1
2
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"