Menkes Kinky Hair Syndrome: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)Duodenoscopy: Endoscopic examination, therapy or surgery of the luminal surface of the duodenum.Crohn Disease: A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.Hepatolenticular Degeneration: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.Cation Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of positively charged molecules (cations) across a biological membrane.Copper: A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.Adenosine Triphosphatases: A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.Metallochaperones: A family of soluble metal binding proteins that are involved in the intracellular transport of specific metal ions and their transfer to the appropriate metalloprotein precursor.CeruloplasminRats, Inbred LEC: A cinnamon-colored strain of Long-Evans rats which carries a mutation causing fulminant hepatitis and jaundice, with an associated gross accumulation of copper in the liver. This strain is a model for Wilson's Disease (see HEPATOLENTICULAR DEGENERATION).Brain Diseases, Metabolic: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.Metal Metabolism, Inborn ErrorsCarrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Recombinant Fusion Proteins: Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.Dimethyldithiocarbamate: A chemical that acts as a dopamine beta-hydroxylase inhibitor. Its salts are agricultural fungicides. It is inferior to diethyldithiocarbamate as a chelating agent.Trientine: An ethylenediamine derivative used as stabilizer for EPOXY RESINS, as ampholyte for ISOELECTRIC FOCUSING and as chelating agent for copper in HEPATOLENTICULAR DEGENERATION.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Penicillamine: 3-Mercapto-D-valine. The most characteristic degradation product of the penicillin antibiotics. It is used as an antirheumatic and as a chelating agent in Wilson's disease.Rats, Mutant Strains: Rats bearing mutant genes which are phenotypically expressed in the animals.Extrapyramidal Tracts: Uncrossed tracts of motor nerves from the brain to the anterior horns of the spinal cord, involved in reflexes, locomotion, complex movements, and postural control.Biological Transport: The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Molecular Chaperones: A family of cellular proteins that mediate the correct assembly or disassembly of polypeptides and their associated ligands. Although they take part in the assembly process, molecular chaperones are not components of the final structures.Sweat Glands: Sweat-producing structures that are embedded in the DERMIS. Each gland consists of a single tube, a coiled body, and a superficial duct.Droxidopa: A precursor of noradrenaline that is used in the treatment of parkinsonism. The racemic form (DL-threo-3,4-dihydroxyphenylserine) has also been used, and has been investigated in the treatment of orthostatic hypotension. There is a deficit of noradrenaline as well as of dopamine in Parkinson's disease and it has been proposed that this underlies the sudden transient freezing seen usually in advanced disease. Administration of DL-threo-3,4-dihydroxyphenylserine has been claimed to result in an improvement in this phenomenon but controlled studies have failed to demonstrate improvement. (Reynolds JEF(Ed): Martindale: The Extra Pharmacopoeia (electronic version). Micromedex, Inc, Englewood, CO, 1995)Cutis Laxa: A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Ehlers-Danlos Syndrome: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.Chelation Therapy: Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Fluorescent Antibody Technique, Indirect: A form of fluorescent antibody technique commonly used to detect serum antibodies and immune complexes in tissues and microorganisms in specimens from patients with infectious diseases. The technique involves formation of an antigen-antibody complex which is labeled with fluorescein-conjugated anti-immunoglobulin antibody. (From Bennington, Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)Sweat: The fluid excreted by the SWEAT GLANDS. It consists of water containing sodium chloride, phosphate, urea, ammonia, and other waste products.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chelating Agents: Chemicals that bind to and remove ions from solutions. Many chelating agents function through the formation of COORDINATION COMPLEXES with METALS.Golgi Apparatus: A stack of flattened vesicles that functions in posttranslational processing and sorting of proteins, receiving them from the rough ENDOPLASMIC RETICULUM and directing them to secretory vesicles, LYSOSOMES, or the CELL MEMBRANE. The movement of proteins takes place by transfer vesicles that bud off from the rough endoplasmic reticulum or Golgi apparatus and fuse with the Golgi, lysosomes or cell membrane. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990)Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Methoxyhydroxyphenylglycol: Synthesized from endogenous epinephrine and norepinephrine in vivo. It is found in brain, blood, CSF, and urine, where its concentrations are used to measure catecholamine turnover.3,4-Dihydroxyphenylacetic Acid: A deaminated metabolite of LEVODOPA.Protein Transport: The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.Cubital Tunnel Syndrome: Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)Cell Line: Established cell cultures that have the potential to propagate indefinitely.Sweating: The process of exocrine secretion of the SWEAT GLANDS, including the aqueous sweat from the ECCRINE GLANDS and the complex viscous fluids of the APOCRINE GLANDS.Dopamine beta-HydroxylaseBinding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
"Wilson disease and Menkes disease: new handles on heavy-metal transport". Trends Genet. 10 (7): 246-52. doi:10.1016/0168-9525( ... such as Wilson's and Menke's diseases. The HMA domain, contains two conserved cysteines that are probably involved in metal ... "Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase". Nat. Struct. Biol. 5 (1): 47 ...
"Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins". Nat. Struct. Biol. 7 (9 ... "Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p ... Hamza I, Schaefer M, Klomp LW, Gitlin JD (1999). "Interaction of the copper chaperone HAH1 with the Wilson disease protein is ... Wernimont AK, Yatsunyk LA, Rosenzweig AC (2004). "Binding of copper(I) by the Wilson disease protein and its copper chaperone ...
CCS is currently being tested as a biomarker in humans.[citation needed] Several rare genetic diseases (Wilson disease, Menkes ... If diagnosed and treated early enough, patients with Wilson's disease may live long and productive lives. Wilson's disease is ... Even with early diagnosis and treatment, Menkes disease is usually fatal.[citation needed] Ongoing research into Menkes disease ... The diseases arise from defects in two similar copper pumps, the Menkes and the Wilson Cu-ATPases. The Menkes ATPase is ...
... the only two inherited copper metabolism disorders known were Menkes disease and Wilson's disease. Menkes and Wilson's disease ... Both ATPases, ATP7A (Menkes) and ATP7B (Wilson's) are located in the trans-Golgi network and are responsible for transporting ... with MEDNIK syndrome have been shown to display combined clinical and biochemical signs of both Menkes and Wilson's diseases. ... Transmission of the disease is believed to be autosomal recessive. Symptoms of the syndrome are intellectual disability, ...
... defective in Menkes and Wilson diseases". Biochem. Biophys. Res. Commun. United States. 348 (2): 428-36. doi:10.1016/j.bbrc. ... GLRX has been shown to interact with Wilson disease protein and ATP7A. GRCh38: Ensembl release 89: ENSG00000173221 - Ensembl, ...
Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, menkes and wilson disease ... Menkes disease is caused by mutations in the ATP7A gene. Researchers have identified different ATP7A mutations that cause ... Menkes disease and occipital horn syndrome (OHS), the milder form of Menkes disease. Many of these mutations delete part of the ... Tümer Z, Vural B, Tønnesen T, Chelly J, Monaco AP, Horn N (1995). "Characterization of the exon structure of the Menkes disease ...
Wilson disease (a rare (UK incidence 2/100,000) copper storage disease). This disease causes very high levels of copper in the ... Menkes disease (Menkes kinky hair syndrome) (rare - UK incidence 1/100,000) Copper deficiency Aceruloplasminemia Greater-than- ... Menkes disease) Delivery of copper into the lumen of the ER-Golgi network is absent in hepatocytes due to absent ATP7B ( ... Wilson's disease) Copper availability doesn't affect the translation of the nascent protein. However, the apoenzyme without ...
... responsible for the human diseases Menkes syndrome (MIM 309400) and Wilson disease (MIM 277900), respectively, are involved in ...
"Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J ... Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder that affects copper levels in the body, ... Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, Menkes and Wilson disease ... Menkes Disease at eMedicine Online Mendelian Inheritance in Man (OMIM) 300011 Voskoboinik I, Camakaris J (2002). "Menkes copper ...
ATP7A and Menkes disease Wilson's Disease ATOX1 GRCh38: Ensembl release 89: ENSG00000123191 - Ensembl, May 2017 GRCm38: Ensembl ... Therefore, symptoms of Wilson disease could be various including kidney disease and neurological disease. The major cause is ... GeneReviews/NIH/NCBI/UW entry on Wilson Disease or Hepatolenticular Degeneration Wilson disease protein at the US National ... Genetic disorder of the ATP7B gene may cause Wilson's disease, a disease in which copper accumulates in tissues, leading to ...
Y.Fujimoto Kimmelstiel-Wilson disease - Paul Kimmelstiel, Clifford Wilson Kimura's disease - T. Kimura King-Kopetzky syndrome ... Prosper Ménière Menkes disease - John Hans Menkes Middleton syndrome - Stephen John Middleton Mikulicz's disease - Jan Mikulicz ... Related disease naming structures reference place names (Bornholm disease, Lyme disease, Ebola virus disease), and societies, ... Lynch Machado-Joseph disease (a.k.a. Machado-Joseph Azorean disease, Machado disease, Joseph's disease) - named for William ...
Disorders of copper metabolism Wilson's disease Menkes disease (E83.1) Disorders of iron metabolism Aceruloplasminemia ... Glycogen storage disease type II (Pompe's disease) Glycogen storage disease type III Glycogen storage disease type IV Glycogen ... Bielschowsky-Jansky disease (Type 2) Kufs disease (Type 4) Spielmeyer-Vogt disease (Type 3) (E75.5) Other lipid storage ... Other sphingolipidosis Gaucher's disease (ILDS E75.220) Niemann-Pick disease (ILDS E75.230) Farber's disease (ILDS E75.240) ...
Vulpe, C.; Levinson, B.; Whitney, S.; Packman, S.; Gitschier, J. (1993). "Isolation of a candidate gene for Menkes disease and ... "Characterization of the Wilson disease gene encoding a P-type copper-transporting ATPase: genomic organization, alternative ...
... syndrome Morvan's syndrome Mouth and genital ulcers with inflamed cartilage syndrome Mowat-Wilson syndrome Moyamoya disease ... syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Memory distrust syndrome Mendelson's syndrome Menkes disease ... Wildervanck syndrome Williams syndrome Williams-Campbell syndrome Wilson's temperature syndrome Wilson-Mikity syndrome Wilson- ... Town Lawrence-Seip syndrome Lazarus syndrome Leaky gut syndrome Legg-Calvé-Perthes disease Legius syndrome Leiner's disease ...
... expert on Menkes disease C. D. Darlington (1903-1981), British biologist and geneticist, elucidated chromosomal crossover ... Canadian medical geneticist and expert on Wilson's disease Harriet Creighton (1909-2004), US botanist who with McClintock first ... Allan Wilson (1934-1991) New Zealand-US innovator in molecular study of human evolution David Sloan Wilson (born 1949), US ... complex diseases Robert Race (1907-1984), British expert on blood groups, along with wife Ruth Sanger Sheldon C. Reed (1910- ...
Andrews' Diseases of the Skin (10th ed.). Elsevier.. *^ Gibson, R. S. (2005). "Assessment of vitamin B6 status". Principles of ... Menkes, John H. (1980). Textbook of Child Neurology (2nd ed.). Philadelphia: Henry Kimpton Publishers. p. 486. ISBN 978-0-8121- ... Wilson, Stephanie MC; Bivins, Brittney N; Russell, Katelyn A; Bailey, Lynn B (2011). "Oral contraceptive use: Impact on folate ... In 1934, the Hungarian physician Paul György discovered a substance that was able to cure a skin disease in rats (dermatitis ...
Menkes disease is a congenital disease that is a cause of copper deficiency. Menkes disease is a hereditary condition caused by ... This mechanism is exploited therapeutically to achieve negative balance in Wilson's disease, which involves an excess of copper ... Menkes disease is usually a fatal disease with most children dying within the first ten years of life. It is rarely suggested ... Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. Journal of Inherited Metabolic Disease, 33(5), ...
Andrews' Diseases of the Skin (10th ed.). Elsevier.. *^ Gibson RS (2005). "Assessment of vitamin B6 status". Principles of ... Menkes JH (1980). Textbook of Child Neurology (2nd ed.). Philadelphia: Henry Kimpton Publishers. p. 486. ISBN 978-0-8121-0661-9 ... Wilson SM, Bivins BN, Russell KA, Bailey LB (October 2011). "Oral contraceptive use: impact on folate, vitamin B₆, and vitamin ... In 1934, the Hungarian physician Paul György discovered a substance that was able to cure a skin disease in rats (dermatitis ...
... with subcortical cysts Megalencephaly Melkersson-Rosenthal syndrome Menieres disease Meningitis Menkes disease Metachromatic ... see Spinal muscular atrophy West syndrome Whiplash Williams syndrome Wilson's disease Y-Linked hearing impairment Zellweger ... Lumbar disc disease Lumbar spinal stenosis Lupus erythematosus - neurological sequelae Lyme disease Machado-Joseph disease ... Phantom pain Photic sneeze reflex Phytanic acid storage disease Pick's disease Pinched nerve Pituitary tumors PMG ...
Celiac disease affects about 7-20% and gastroesophageal reflux disease is also more common. Individuals with Down syndrome tend ... Wilson, Golder N.; Cooley, W. Carl (2006). Preventive management of children with congenital anomalies and syndromes (2 ed.). ... Menkes, John H.; Sarnat, Harvey B. (2005). Child neurology (7th ed.). Philadelphia, PA: Lippincott Williams & Wilkins. p. 228. ... Many (15%) who live 40 years or longer develop Alzheimer disease. In those who reach 60 years of age, 50-70% have the disease. ...
Menkes/ATP7A. *Wilson/ATP7B. Ca+ (3.6.3.8). *SERCA *ATP2A1. *ATP2A2. *ATP2A3. *Plasma membrane *ATP2B1 ...
Initial treatment for severe disease is with intravenous calcium chloride and possibly magnesium sulfate.[1] Other treatments ... Wilson's disease. deficiency:. *Copper deficiency. *Menkes disease/Occipital horn syndrome. Zn. high:. *Zinc toxicity ...
Wilson's disease. deficiency:. *Copper deficiency. *Menkes disease/Occipital horn syndrome. Zn. high:. *Zinc toxicity ...
Menkes, J.H. (2006). "Toxic and nutritional disorders". In Menkes, J.H.; Sarnat, H.B.; Maria, B.L. Child Neurology (7th ed.). ... Wilson, Ian Harold; Wilson, Simon Barton (2016). "Confounding and causation in the epidemiology of lead". International Journal ... Centers for Disease Control and Prevention. Archived (PDF) from the original on 9 January 2012. Retrieved 5 January 2012.. ... Menkes (2006) p.703 *^ a b Maas, RP; Patch, SC; Morgan, DM; Pandolfo, TJ (2005). "Reducing lead exposure from drinking water: ...
The rate of congenital heart disease in newborns with Down syndrome is around 40%.[24] Of those with heart disease, about 80% ... Wilson, Golder N.; Cooley, W. Carl (2006). Preventive management of children with congenital anomalies and syndromes (2 ed.). ... Menkes, John H.; Sarnat, Harvey B. (2005). Child neurology (7th ed.). Philadelphia, PA: Lippincott Williams & Wilkins. p. 228. ... Hammer, edited by Stephen J. McPhee, Gary D. (2010). "Pathophysiology of Selected Genetic Diseases". Pathophysiology of disease ...
This article is about a skin disease common during adolescence. For other acneiform skin diseases, see Acne (disambiguation). ... Erasmus Wilson, in 1842, was the first to make the distinction between acne vulgaris and rosacea.[180] The first professional ... Disease Primers. 1: 15033. doi:10.1038/nrdp.2015.33. PMID 27227877.. *^ a b "Frequently Asked Questions: Acne" (PDF). U.S. ... Acne, also known as acne vulgaris, is a long-term skin disease that occurs when dead skin cells and oil from the skin clog hair ...
Cultured fibroblasts from Menkes kinky hair disease patients showed markedly reduced succinate dehydrogenase and amine oxidase ... Histochemical studies of fibroblasts from patients with Menkes kinky hair disease and Wilsons disease. ... Chan, W. Y. &Rennert, O. M. (1980a) Comparative study of Menkes and Wilsons disease.Cien Biol. 5, 73-5.Google Scholar ... that the histochemical phenotype observed in fibroblasts from patients with Menkes kinky hair disease and Wilsons disease were ...
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers : a new canine model for copper- ... The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers : a new canine model for copper- ... Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson ... The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the ...
diagnosis of Wilson disease. *any disease or condition that, in the opinion of the Investigator, has a high probability of ... Hair Diseases. Skin Diseases. Metabolic Diseases. Skin Diseases, Genetic. Connective Tissue Diseases. Hemostatic Disorders. ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetic and Rare Diseases Information Center resources: Menkes Disease Occipital Horn Syndrome Cutis Laxa Ehlers-Danlos ...
Diagnosis of Wilson disease. *Any disease or condition that, in the opinion of the Investigator, has a high probability of ... Hair Diseases. Skin Diseases. Metabolic Diseases. Skin Diseases, Genetic. Connective Tissue Diseases. Hemostatic Disorders. ... Menkes Kinky Hair Syndrome. Cutis Laxa. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central ... Condition or disease Intervention/treatment Phase Menkes Disease Occipital Horn Syndrome Unexplained Copper Deficiency Drug: ...
In the 52 years since the original description of Menkes kinky hair disease (MKHD), advances in understanding the clinical, ... Wilsons disease and Menkes disease. Am J Physiol. 1999 Feb. 276(2 Pt 1):G311-4. [Medline]. ... Drugs & Diseases , Pediatrics: Genetics and Metabolic Disease Genetics of Menkes Kinky Hair Disease Follow-up. Updated: Sep 08 ... Intracellular localization of the Menkes and Wilsons disease proteins and their role in intracellular copper transport. ...
In the 52 years since the original description of Menkes kinky hair disease (MKHD), advances in understanding the clinical, ... Wilsons disease and Menkes disease. Am J Physiol. 1999 Feb. 276(2 Pt 1):G311-4. [Medline]. ... encoded search term (Genetics of Menkes Kinky Hair Disease) and Genetics of Menkes Kinky Hair Disease What to Read Next on ... As in Leigh disease, patients with Menkes kinky hair disease do not have the severe lactic acidemia associated with other ...
Menkes syndrome is a disorder that affects copper levels in the body. Explore symptoms, inheritance, genetics of this condition ... Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol ... Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J ... Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have ...
Wilson disease. Menkes syndrome. Disorders of glycosylation. Carbohydrate-deficient glycoprotein syndromes, types Ia and Ib ... Inherited metabolic diseases, often referred to as inborn errors of metabolism, comprise a large class of genetic diseases ... As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase ... disease management, and assessing a persons risk for carrying a specific disease trait (i.e., carrier status assessment), such ...
From Menkes, Textbook of Child Neurology, 5th ed, p125) ... Menkes Kinky Hair Syndrome: An inherited disorder of copper ... Wilson protein) and SOD1 showed normal results, implying a copper metabolism defect other than Wilson or Menkes disease. ". 10/ ... Disease, Steely Hair; Diseases, Kinky Hair; Diseases, Menkes; Diseases, Steely Hair; Hair Diseases, Kinky; Hair Diseases, ... Menkes Syndrome; Steely Hair Syndrome; Congenital Hypocupremia; Kinky Hair Disease; Menkes Disease; Steely Hair Disease; ...
Menkes disease, also known as trichopoliodystrophy or Kinky hair kinky vessel syndrome, is an X-linked recessive disorder that ... Wilson disease (copper). *mitochondrial *Kearns-Sayre syndrome. *Leigh syndrome. *mitochondrial encephalopathy with lactic ... Menkes disease, also known as trichopoliodystrophy or Kinky hair kinky vessel syndrome, is an X-linked recessive disorder that ... Menkes disease or "kinky hair, kinky vessel syndrome" is a multi-systemic disorder with an X linked inheritance, with mutation ...
"Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J ... Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder that affects copper levels in the body, ... Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, Menkes and Wilson disease ... Menkes Disease at eMedicine Online Mendelian Inheritance in Man (OMIM) 300011 Voskoboinik I, Camakaris J (2002). "Menkes copper ...
9 Other Neurological Diseases.. 9.1 Introduction.. 9.2 Aceruloplasminaemia.. 9.3 Wilsons and Menkes diseases. ... 5 Huntingtons Disease and Polyglutamine Expansion Neurodegenerative Diseases.. 5.1 Introduction - an overview of trinucleotide ... 10.3 Huntingtons disease and other polyQ disorders.. 10.4 Friedreichs ataxia and other diseases linked to non-coding triplet ... 6.2 Molecular basis of the disease - triplet repeat expansions.. 6.3 Molecular basis of the disease - frataxin and its role in ...
Sambongi Y, Wakabayashi T, Yoshimizu T, Omote H, Oka T, Futai M. Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene ... The putative Cu2+-ATPase is a 1,238-amino acid protein, and highly homologous to the Menkes and Wilson disease gene products ... Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant. ... Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant. ...
Menkes, J. H. (1999). Menkes disease and Wilson disease: two sides of the same Cu coin. Part II. Wilson disease. Eur. J. ... Wilsons disease; Menkes, 1999). Copper accumulation in our cells is therefore the sum of Cu influx across the mucosal membrane ... Harrison, M. D. and Dameron, C. T. (1999). Molecular mechanisms of copper metabolism and the role of the Menkes Disease protein ... Virkki, L. V., Wilson, D. A., Vaughan-Jones, R. D. and Boron, W. F. (2002). Functional characterization of human NBC4 as an ...
"Wilson disease and Menkes disease: new handles on heavy-metal transport". Trends Genet. 10 (7): 246-52. doi:10.1016/0168-9525( ... such as Wilsons and Menkes diseases. The HMA domain, contains two conserved cysteines that are probably involved in metal ... "Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase". Nat. Struct. Biol. 5 (1): 47 ...
Kubes and Fassl discuss the role of NETosis in sterile inflammation and disease, and propose windows of opportunity for ... Formation During Systemic Inflammation in Mice With Menkes Disease and Wilson Disease: Copper Requirement for NET Release * ... Figure 2: Overview of how NETosis may be involved in noninfectious-disease progression.. ... Gupta, S. & Kaplan, M.J. The role of neutrophils and NETosis in autoimmune and renal diseases. Nat. Rev. Nephrol. 12, 402-413 ( ...
Impairments have been linked to Menkes, Wilsons, and Alzheimers disease. Deficiency is rare, but it can lead to ... Menkes disease. Menkes disease, an X-linked recessive disorder, adversely affects how the brain metabolizes copper. This can ... In Wilsons disease, for example, high levels of copper collect in the liver, brain, and other vital organs. ... Kaler, S. G. (2014, August 28). Neurodevelopment and brain growth in classic Menkes disease is influenced by age and ...
Wilsons and Menkes diseases, anaemia, cancers).2,3 In particular, iron and copper involve the formation of reactive oxygen ... J. L. Hougland, J. Darling and S. Flynn, in Molecular Basis of Oxidative Stress, Chemistry, Mechanics and Disease Pathogenesis ... cardiovascular and digestive diseases, and even cancers.8,9 To prevent or forestall oxidative stress and its damaging effects, ... sickle cell disease), a systemic iron overload is observed, surpassing the total iron binding capacity (i.e., saturating ...
Wilson disease and Menkes disease: new handles on heavy-metal transport.. Trends Genet. 10 246-52 1994 ... Wilson disease and Menkes disease: new handles on heavy-metal transport.. Trends Genet. 10 246-52 1994 ... such as Wilsons and Menkes diseases [PMID: 8091505]. A conserved domain has been found in a number of these heavy metal ... Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase.. Nat. Struct. Biol. 5 47-54 ...
Copper storage diseases: Menkes, Wilsons, and Cancer. Kenyon G. Daniel, R. Hope Harbach, Wayne C. Guida, Q. Ping Dou. [ ... Parasitic diseases of the heart. Louis V. Kirchhoff, Louis M. Weiss, Murray Wittner, Herbert B. Tanowitz. [Frontiers In ... Jian-Wei Mo, Wilson Smart. [Frontiers In Bioscience, Landmark, 9, 3384-3391, September 1, 2004] [Abstract][Full text][PDF][ ... Role of cellular magnesium in health and human disease. Maria José Laires, Cristina Paula Monteiro, Manuel Bicho. [Frontiers In ...
Molecular basis of copper transport: cellular and physiological functions of Menkes and Wilson disease proteins (ATP7A and ATPB ... Correction of a mouse model of Menkes disease by the human Menkes gene ... Copper-regulated trafficking of the Menkes disease copper ATPase associated with formation of a phosphorylated catalytic ... Thesis entitled: Mutation Analysis of the Menkes Gene. Doctor of Philosophy (Biol & Chem), School of Life and Environmental ...
Retinal Localization and Copper-Dependent Relocalization of the Wilson and Menkes Disease Proteins PDF ... TAGS: copper, genes, menkes kinky hair syndrome, proteins, retina Invest. Ophthalmol. Vis. Sci.. 2006; 47(7):3129-3134. doi: ...
Chelating principles in Menkes and Wilson diseases. Journal of Inorganic Biochemistry 2019; 190: 98 doi: 10.1016/j.jinorgbio. ... Computing the Pathogenicity of Wilsons Disease ATP7B Mutations: Implications for Disease Prevalence. Journal of Chemical ... DIAGNOSIS AND TREATMENT: WILSONS DISEASE . World of Medicine and Biology 2018; 14(66): 117 doi: 10.26724/2079-8334-2018-4-66- ... National alliance for Wilsons disease: health policy in Costa Rica. Hepatology, Medicine and Policy 2017; 2(1) doi: 10.1186/ ...
Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins. ...
Menkes, and Wilson diseases. Brain Res. Bull. 2001, 55, 175-185. [Google Scholar] [CrossRef] ... Huntingtons disease (HD), Parkinsons disease (PD), multiple sclerosis, manganism, and Wilsons disease [82,83,84,85,86,87]. ... Today, chronic kidney disease (CKD) has become one of the most prevalent diseases in the world. It is characterized by a ... ATSDR Agency for Toxic Substances and Disease Registry. Toxicological Profile for Cadmium; Agency for Toxic Substances Disease ...
  • Centre for Membrane Pumps in Cells and Disease (PUMPkin), Danish National Research Foundation, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark. (rcsb.org)
  • As an X-linked recessive trait, the Menkes gene is transmitted by asymptomatic females who are carriers to 50% of their male offspring (who are affected) and to 50% of their female offspring (who are gene carriers). (medscape.com)
  • Identification of the Menkes gene by positional cloning has enabled molecular diagnosis of females who carry the gene and at-risk fetuses in certain families, enhancing preventive efforts. (medscape.com)
  • It is more common in males than females, because it only takes one copy of the X-linked recessive gene to be expressed for a male to develop the disease. (wikipedia.org)
  • The Saccharomyces cerevisiae mutant with a disrupted CCC2 gene (yeast Menkes/Wilson disease gene homologue) was rescued by the cDNA for the C. elegans Cu 2+ -ATPase but not by the cDNA with an Asp-786 (an invariant phosphorylation site) to Asn mutation, suggesting that the C. elegans Cu 2+ -ATPase functions as a copper transporter in yeast. (elsevier.com)
  • The study of these diseases helped elucidate the cellular machinery responsible for the proper acquisition, distribution, and utilization of Cu. Recently Cu has been found to modulate signaling cascades and gene expression signatures in the context of normal physiology as well as the pathophysiology of diseases such as cancer. (upenn.edu)
  • You have to inherit an abnormal gene from both parents in order to have the disease, so it's possible to have this condition even without a known family history. (ahealthyme.com)
  • Our main purpose is to give users the opportunity to quickly identify diagnostic options according to the different search terms: disease, gene, OMIM number, panel name, provider and Orpha number. (eurogentest.org)
  • He was elected for distinguished contributions to the field of stem cell research, particularly using human stem cells for gene targeting and developing new disease models and treatment. (bio-medicine.org)
  • Identification of these multigenic patterns of inheritance has proven elusive because the vast number of gene combinations that could lead to disease so dramatically exceeds the number of experimental observations possible in human studies. (uchicago.edu)
  • The Wilson disease gene is a copper transporting ATPase with homology to the Menkes Disease gene. (uchicago.edu)
  • The low incidence and the phenotypic variability of human copper toxicosis hamper identification of causal genes or modifier genes involved in the disease pathogenesis. (uu.nl)
  • The biological fate of amyloid beta (Aβ) species is a fundamental question in Alzheimer's disease (AD) pathogenesis. (rsc.org)
  • For four decades the controversial question concerning a possible role for aluminum neurotoxicity in contributing to the pathogenesis of Alzheimer's disease has been debated, and studies by different investigators have yielded contradictory results. (j-alz.com)
  • Metals such as aluminum (Al), copper (Cu), zinc and iron have been implicated in the pathogenesis of Alzheimer's disease (AD). (j-alz.com)
  • Despite the circumstantial and sometimes equivocal support, the hypothetic involvement of aluminum (Al) in the etiology and pathogenesis of Alzheimer s disease (AD) has subsisted in neuroscience. (j-alz.com)
  • There are very few other examples of scientific hypotheses on the pathogenesis of a disease that have been revisited so many times, once a new method that would allow a test of Al s accumulations in the brain of AD patients or a comparison between Al-induced and AD neuropathological signs has become available. (j-alz.com)
  • This so-called oxidative stress has been reported as a source of several pathologies in humans, including respiratory, neurodegenerative, cardiovascular and digestive diseases, and even cancers. (rsc.org)
  • The aim of the present study was to analyze serum metabolomics profiles of patients with Wilson disease compared to healthy subjects, with the goal of identifying differentially abundant metabolites as potential biomarkers for this condition. (springer.com)
  • From Sir Garrod's observations of patients with alkaptonuria, albinism, cystinuria, and pentosuria, he developed the concept that certain diseases of lifelong duration arise because an enzyme governing a single metabolic step is reduced in activity or missing altogether [ 4 ]. (iospress.com)
  • The morphometric parameters in Wilson disease were compared with those in with healthy controls and among the patients with and without abnormal postural reflex. (ajnr.org)
  • The midbrain area was reduced in patients with Wilson disease compared with controls (112.08 ± 27.94 versus 171.95 ± 23.66 mm 2 , P = .002). (ajnr.org)
  • By exploring the components in the cell that regulate myostatin, Lee has identified several potential therapeutic targets for diseases like muscular dystrophy and muscle wasting in AIDS patients and the elderly. (hopkinsmedicine.org)
  • 25 [micro]mol/day after penicillamine challenge was found to be useful in confirming symptomatic WD patients with active liver disease (sensitivity 92%) but unreliable for excluding WD in asymptomatic siblings (sensitivity 46%) (15). (thefreelibrary.com)
  • His team's current focus is on using human pluripotent stem cells, such as iPS cells from healthy donors and patients, to investigate human stem cell biology and diseases. (bio-medicine.org)
  • Clinical significance == Like any other plasma protein, levels drop in patients with hepatic disease due to reduced synthesizing capabilities. (wikidoc.org)
  • In Biological Aspects of Metals and Metal Related Diseases (edited by Sarkar, B. ), New York: Raven Press (in press). (springer.com)
  • download theory of relativity in problems with fourth degrees: Alzheimer's, Menkes, and Wilson metals. (prigsbee.com)
  • Metals such as copper, iron and manganese are essential nutrients for virtually all life, however, excess levels or inappropriate handling can lead to cell damage and disease. (hopkinsmedicine.org)
  • Since the presence of Al and Cu in drinking water has been shown to adversely affect the progression of AD, these two metals may aggravate some of the events associated with the disease process. (j-alz.com)
  • These techniques are being used to unlock the previously enigmatic role of metals in biology and diseases. (edu.au)
  • Svetlana Lutsenko, a professor in the Department of Physiology, was elected for distinguished contributions to the field of metals in biology with respect to elucidating the mechanisms of copper transport in health and human disease. (bio-medicine.org)
  • Pontomesencephalic involvement is common in neurologic Wilson disease, but there is no prior study evaluating the MR Parkinsonism index and its indices in Wilson disease. (ajnr.org)
  • Thirteen individuals with neurologic Wilson disease were included, and their clinical details, including neurologic severity, postural reflex abnormality, and location of signal changes on MR imaging, were noted. (ajnr.org)
  • Chorea can have many causes and is not usually present in isolation in neurologic Wilson disease. (thecardiologyadvisor.com)
  • An increase in the MR Parkinsonism index in Wilson disease is mainly due to midbrain atrophy and it correlates with neurologic severity and abnormal postural reflex. (ajnr.org)
  • It was an unusual finding, and we want to know more about it,' said Chen, who will examine the biological regulation of copper to identify potential causes of diseases marked by abnormal amounts of copper in cells. (news-medical.net)
  • [ 7 ] Menkes had reported 5 male infants in a family of English-Irish heritage who were affected with a distinctive syndrome of neurologic degeneration, peculiar hair, and failure to thrive. (medscape.com)
  • Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function. (nih.gov)
  • Dr Roberts completed his PhD in 2007 in Biochemistry and Biophysics from Oregon State University where he studied the neurodegenerative disease Amyotrophic Lateral Sclerosis also known as Motor Neurone disease. (edu.au)
  • 5 ] solved the problem of exclusivity by adding "molecular" before encompassing every disease of the "textbook of the future. (iospress.com)