Glycoside hydrolaseFumarylacetoacetate hydrolaseAdenosineSolubleDehydrogenase deficiencyMetabolismUridineGeneHumansPharmacological InhibitionLysosomal storage dFattyExpressed genesAcidAbnormalHereditaryEnzyme activityNeuroinflammationActivityEndocannabinoidsMembranePhenotypeProteinsSCID200,000DiseaseLysosomesSevereManifestationsPopulationDiseasesDisorderTreatmentNormal
Glycoside hydrolase1
- An acetylgalactosaminidase is glycoside hydrolase whose deficiency leads to Schindler disease/Kanzaki disease. (lotsofwords.com)
Fumarylacetoacetate hydrolase2
- Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production. (nih.gov)
- The most successful liver repopulation with bone-marrow-derived cells was observed in mice with fumarylacetoacetate hydrolase (FAH? (woofahs.com)
Adenosine3
- S-adenosylhomocysteine (SAH) hydrolase catalyzes conversion of homocysteine to SAH in the presence of added adenosine. (cdc.gov)
- INTRODUCTION - Adenosine deaminase (ADA) deficiency (MIM #102700) was the first immunodeficiency in which the specific molecular defect was identified. (medilib.ir)
- See "Adenosine deaminase deficiency: Treatment and prognosis" and "Purine nucleoside phosphorylase deficiency" . (medilib.ir)
Soluble11
- Lysosomes require more than 60 soluble hydrolases in order to catabolize such macromolecules. (stanford.edu)
- These soluble hydrolases are tagged with mannose-6-phosphate (M6P) moieties in sequential reactions by the Golgi-resident GlcNAc-1-phosphotransferase complex and NAGPA/UCE/uncovering enzyme (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase), which allows their delivery to endosomal/lysosomal compartments through trafficking mediated by cation-dependent and -independent mannose-6-phosphate receptors (MPRs). (stanford.edu)
- 2020. 1-trifluoromethoxyphenyl-3-(1-propionylpiperidin-4-yl) urea (TPPU), a soluble epoxide hydrolase inhibitor, lowers L-NAME-induced hypertension through suppression of angiotensin-converting enzyme in rats. (ucdavis.edu)
- 2020. Target-Mediated Drug Disposition-A Class Effect of Soluble Epoxide Hydrolase Inhibitors. (ucdavis.edu)
- 2019. Inhibition of Pancreatic Carcinoma Growth Through Enhancing ω-3 Epoxy Polyunsaturated Fatty Acid Profile by Inhibition of Soluble Epoxide Hydrolase. (ucdavis.edu)
- Pharmacological Inhibition of Soluble Epoxide Hydrolase as a New Therapy for Alzheimer's Disease. (ucdavis.edu)
- 2020. N-Benzyl-linoleamide, a Constituent of Lepidium meyenii (Maca), Is an Orally Bioavailable Soluble Epoxide Hydrolase Inhibitor That Alleviates Inflammatory Pain. (ucdavis.edu)
- Discovery of Soluble Epoxide Hydrolase Inhibitors from Chemical Synthesis and Natural Products. (ucdavis.edu)
- 2021. Movement to the Clinic of Soluble Epoxide Hydrolase Inhibitor EC5026 as an Analgesic for Neuropathic Pain and for Use as a Nonaddictive Opioid Alternative. (ucdavis.edu)
- 2021. Inhibition of the Soluble Epoxide Hydrolase as an Analgesic Strategy: A Review of Preclinical Evidence. (ucdavis.edu)
- Soluble epoxide hydrolase (sEH) metabolizes epoxyeicosatrienoic acids (EETs), primarily 14,15-EET. (elsevierpure.com)
Dehydrogenase deficiency1
- A brief review considered selected genetic variants and associated diseases such as red blood cell traits and predisposure to acute hemolytic anemia for persons with glucose-6-dehydrogenase deficiency, the occurrence of sickle cell anemia in individuals having a specific change in the amino acid structure of the peptide chains of hemoglobin, and the occurrence of thalassemia major due to a genetic defect in the rate of hemoglobin synthesis. (cdc.gov)
Metabolism2
- Hemolytic anemia due to pyrimidine 5′ nucleotidase deficiency is a rare hereditary hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. (globalgenes.org)
- Tyrosinemia type I is caused by a deficiency of fumarylacetoacetase (FAH), one of the last enzymes in aromatic amino acid metabolism. (medicalhomeportal.org)
Uridine1
- Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. (nih.gov)
Gene5
- Overall, this study reveals the impact of cln5 -deficiency on gene expression in D. discoideum , provides insight on the genes and proteins that play a role in regulating Cln5-dependent processes, and sheds light on the molecular mechanisms underlying CLN5 disease. (frontiersin.org)
- A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report. (nih.gov)
- The Xyloglucan Endotransglucosylase/Hydrolase Gene XTH22/TCH4 Regulates Plant Growth by Disrupting the Cell Wall Homeostasis in Arabidopsis under Boron Deficiency. (bvsalud.org)
- ADA deficiency is an autosomal-recessive disorder caused by pathogenic variants in the ADA1 gene at 20q13.11 (MIM *608958) [ 6-9 ]. (medilib.ir)
- Molybdenum cofactor deficiency (MoCD) is a rare genetic disorder that results from one of several single gene defects in the biosynthetic pathway of molybdenum cofactor. (conduent.com)
Humans1
- In humans, LAMAN deficiency results in progressive mental retardation, skeletal changes, hearing loss and recurrent infections and many patients die during early childhood. (europa.eu)
Pharmacological Inhibition1
- We tested the hypothesis that sEH deficiency and pharmacological inhibition elicit tolerance to ischemia via EETmediated STAT3 signaling in vitro and in vivo. (elsevierpure.com)
Lysosomal storage d2
- Mucolipidosis II (ML II), also known as I-Cell disease, and Mucolipidosis IIIA (ML IIIA), also known as Pseudo-Hurler Polydystrophy, are lysosomal storage disorders caused by a deficiency of N-acetylglucosamine-1-phosphotransferase (NAPT). (ggc.org)
- Lysosomal storage disorders are caused by a deficiency or absence of required enzymes. (conduent.com)
Fatty2
- Estrogen regulates the fatty acid amide hydrolase, which breaks down some endocannabinoids. (health-local.com)
- Fatty Acid Hydrolase (FAAH) breaks down the endocannabinoid AEA. (blncdnaturals.com)
Expressed genes1
- In this study, we used comparative transcriptomics to identify differentially expressed genes underlying cln5 -deficiency phenotypes during growth and the early stages of multicellular development. (frontiersin.org)
Acid4
- The disorder results from the deficiency of a specific lysosomal hydrolase, glucocerebrosidase (also termed acid beta-glucosidase, glucosylceramidase). (medscape.com)
- Today, the U.S. Food and Drug Administration approved Kanuma (sebelipase alfa) as the first treatment for patients with a rare disease known as lysosomal acid lipase (LAL) deficiency. (news-medical.net)
- Increased concentrations of methylmalonic acid in plasma or serum and excessive urinary excretion of MMA are believed to be direct measures of tissue stores of cobalamin (vitamin B12) and to be the first indication of cobalamin deficiency. (cdc.gov)
- In folate deficiency, methylmalonic acid is normal. (cdc.gov)
Abnormal1
- In addition, deoxyadenosine irreversibly binds to and inhibits S-adenosylhomocysteine hydrolase, which also contributes to abnormal DNA synthesis [ 11,12 ]. (medilib.ir)
Hereditary1
- A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review]. (nih.gov)
Enzyme activity3
- The wide spectrum of the ADA deficiency phenotype is largely related to the variability in genetic mutations and the amount of residual ADA enzyme activity. (medilib.ir)
- There are also some people with "partial" ADA deficiency, who have enzyme activity ranging from 5 to 80 percent of normal but who otherwise have normal immunologic features [ 10 ]. (medilib.ir)
- Therefore, the enzyme activity of multiple lysosomal hydrolases is increased in plasma and other body fluids. (ggc.org)
Neuroinflammation2
- The factors that contribute to neurologic involvement in patients with types 2 and 3 disease are still unknown but may be related to the accumulation of a cytotoxic glycolipid, glucosylsphingosine, in the brain due to the severe deficiency of glucocerebrosidase activity or to neuroinflammation. (medscape.com)
- An epoxide hydrolase inhibitor reduces neuroinflammation in a mouse model of Alzheimer's disease. (ucdavis.edu)
Activity7
- A thorough examination of saposin D-mutated PD patient-derived cells from the Japanese patients reported endoplasmic reticulum PSAP retention but preserved sphingolipid hydrolase activity, which is inconsistent with the canonical theory of PSAP and saposins 7 . (nature.com)
- In order to examine the consequences of CD26/DPP IV deficiency on the activity of other enzymes, CD26 deficient mice were investigated. (srce.hr)
- Genetic traits associated with lung diseases include increased aryl- hydrocarbon-hydrolase activity associated with bronchogenic carcinoma, and alpha-1-antitrypsin deficiency associated with obstructive pulmonary disease, particularly emphysema. (cdc.gov)
- Enzymatic analysis of lymphocytes, plasma, and cultured skin fibroblasts showed marked deficiency of β-galactosidase activity, more profound with G M1 ganglioside than with another natural substrate, asialofetuin. (fujita-hu.ac.jp)
- The current understanding of LYSET's importance regarding human biology is 3-fold: 1) highly pathogenic viruses that depend on lysosomal hydrolase activity require LYSET for infection. (stanford.edu)
- The activity of 4 lysosomal hydrolases are measured from a dried blood spot. (ggc.org)
- Cell death and hydrolase activity was lower in Arg287Gln EPHX2 mutants vs. nontransduced controls. (elsevierpure.com)
Endocannabinoids1
- Sometimes, our bodies produce low levels of endocannabinoids, leading to a deficiency associated with numerous health conditions. (royalqueenseeds.com)
Membrane1
- Dipeptidyl peptidase IV (CD26/DPP IV) is as well an intestinal brush-border membrane hydrolase. (srce.hr)
Phenotype1
Proteins1
- More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
SCID1
- ADA deficiency accounts for approximately one-third of all cases of autosomal-recessive severe combined immunodeficiency (SCID) and approximately 10 to 15 percent of all cases of SCID [ 3-5 ]. (medilib.ir)
200,0001
- EPIDEMIOLOGY - ADA deficiency has an overall incidence of 1 in 200,000 livebirths, with a much higher rate among some populations such as the Somali [ 1 ] and Amish/Mennonites [ 2 ]. (medilib.ir)
Disease4
- deficiency ensuing in practical correction of the liver organ disease [4, 12, 13]. (woofahs.com)
- 3) Inherited pathogenic alleles of LYSET can cause a severe inherited disease which resembles GlcNAc-1-phosphotransferase deficiency (i.e., mucolipidosis type II). (stanford.edu)
- The work of Professor Elizabeth F. Neufeld is characterized by its perfectly systematic and logical progression: Starting with the chance observation that two cell lines from patients suffering from different genetic storage disease "correct" each other's defect when cultured together, she has moved unerringly to the recognition of the "correcting factors" as being lysosomal hydrolases,and hence to the elucidation of the precise enzymatic defect responsible for several mucopoly saccharidoses. (wolffund.org.il)
- In addition, by studying the selective uptake of the factors she has discovered that, during their biosynthesis, lysosomal enzymes receive a specific "recognition marker" that serves to target them selectively to lysosomes, and she has identified I-cell disease as a genetic deficiency of this targeting process. (wolffund.org.il)
Lysosomes2
- LYSET deficiency resulted in global loss of M6P tagging and mislocalization of GlcNAc-1-phosphotransferase from the Golgi complex to lysosomes. (stanford.edu)
- Autophagy is a catabolic process where cytoplasmic components are delivered to lysosomes for proteolytic degradation by acidic hydrolases (21). (kentlandsinitiative.org)
Severe1
- GlcNAc-1-phosphotransferase deficiency leads to the severe lysosomal storage disorder mucolipidosis II (MLII). (stanford.edu)
Manifestations1
- The pathogenesis, clinical manifestations, and diagnosis of ADA deficiency are presented in this topic review. (medilib.ir)
Population1
Diseases2
- Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
- Thanks to the work of Professors Hers and Neufeld and to the investigations they have sparked, more than 30 genetic storage diseases are now known to be deficiencies of lysosomal digestion and a common pathological pattern with unique features has been recognized. (wolffund.org.il)
Disorder3
- The disorder results from the deficiency of the enzyme glucocerebrosidase. (medscape.com)
- The treatment of ADA deficiency is discussed separately, as is the related combined immunodeficiency disorder, purine nucleoside phosphorylase deficiency. (medilib.ir)
- Pyruvate kinase deficiency is an inherited red blood cell enzyme disorder that causes chronic hemolysis. (conduent.com)
Treatment1
- Women with endometriosis have a CB1 production deficiency, making medical cannabis a good treatment option to relieve the pain by activating the CB1 receptors. (health-local.com)
Normal2
- The concentration of MMA in plasma or serum was found to be a useful indicator of cobalamin deficiency, especially in patients with few or no hematological abnormalities, normal results for the Schilling test, or normal or only slightly depressed serum cobalamin concentrations. (cdc.gov)
- Other lysosomal hydrolases were normal. (fujita-hu.ac.jp)