XLSA - X-Linked Sideroblastic Anemia | AcronymFinder
How is X-Linked Sideroblastic Anemia abbreviated? XLSA stands for X-Linked Sideroblastic Anemia. XLSA is defined as X-Linked Sideroblastic Anemia somewhat frequently.
Congenital Sideroblastic Anemia | Boston Childrens Hospital
Congenital Sideroblastic Anemia (CSA) is a group of rare inherited disorders that decrease the number of red blood cells. Learn more from Boston Childrens Hospital
Pyridoxine-responsive primary acquired sideroblastic anaemia : in vitro and in vivo effects of vitamin B6 on decreased 5...
The activity of 5-aminolaevulinate (ALA) synthase, the first and rate-limiting of haem synthesis, was markedly reduced (13% of controls) in erythroblasts of a patient with acquired, primary sideroblastic anaemia (PASA). The reduced activity of ALA synthase could not be restored in vitro with 1 mmol/l pyridoxal-5-phosphate (PLP). Treatment of the patient with pyridoxine for several months increased the ALA synthase activity from 13% to 50% of controls in the absence and to 100% in the presence of PLP in the incubation medium. These studies suggest that both increased degradation of apo-ALA synthase and decreased affinity of ALA synthase for PLP may be involved in pyridoxine-responsive PASA ...
Aminolevulinic acid synthase - Wikipedia
Aminolevulinic acid synthase (ALA synthase, ALAS, or delta-aminolevulinic acid synthase) is an enzyme (EC 2.3.1.37) that catalyzes the synthesis of D-aminolevulinic acid (ALA) the first common precursor in the biosynthesis of all tetrapyrroles such as hemes, cobalamins and chlorophylls. The reaction is as follows: succinyl-CoA + glycine ⇌ {\displaystyle \rightleftharpoons } δ-aminolevulinic acid + CoA + CO2 This enzyme is expressed in all non-plant eukaryotes and the α-class of proteobacteria. Other organisms produce ALA through a three enzyme pathway known as the Shemin pathway. ALA is synthesized through the condensation of glycine and succinyl-CoA. In humans, transcription of ALA synthase is tightly controlled by the presence of Fe2+-binding elements, to prevent accumulation of porphyrin intermediates in the absence of iron. There are two forms of ALA synthase in the body. One form is expressed in red blood cell precursor cells (ALAS2), whereas the other (ALAS1) is ubiquitously expressed ...
Iron loading of cultured hepatocytes. Effect of iron on 5-aminolaevulinate synthase is independent of lipid peroxidation |...
Cultured chick embryo hepatocytes were iron-loaded with ferric nitrilotriacetate. Iron-loading was confirmed by both quantitative cellular iron determinations and ultrastructural studies. With iron-loading, lipid peroxidation, as detected by malonaldehyde released into the medium, occurred at a linear rate for 12h, after which time the rate of malonaldehyde production decreased. No cell toxicity, as detected by lactate dehydrogenase release, was noted. The amount of malonaldehyde recovered in the medium after 18h of exposure to iron represented 24-33% of the total malonaldehyde that could be produced by incubating lysed cells with iron and ascorbate. Cellular glutathione was not affected by iron-stimulated lipid peroxidation, but was increased by allylisopropylacetamide. Although iron-loading by itself had no effect on activity of 5-aminolaevulinate synthase, the first and rate-limiting step in haem synthesis, iron-loading in the presence of the porphyrogenic drug allylisopropylacetamide ...
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure | Blood Journal
A 3-month-old boy presented with decreased appetite, fatigue, and a nosebleed. Initial workup revealed hemoglobin 2.6 g/dL (10.2-12.7), hematocrit 7.7% (30.9-37.9), mean corpuscular volume 104 fL (71.3-82.6), white blood cell count 4200/μL (240 absolute neutrophil count), platelets 50 000/μL (140-400), and reticulocyte count 1.31% (1.55-2.7). Bone marrow revealed hypercellularity with cytoplasmic vacuolization of myeloid and erythroid precursors (panels A-B; original magnification ×1000, Wright-Giemsa stain). Iron staining of marrow biopsy revealed numerous ringed sideroblasts (panels C-D; original magnification ×1000, Prussian blue stain). DNA was examined by array-based comparative genomic hybridization and revealed a 4.9-kb deletion, m.11027_15950del4923, consistent with mitochondrial DNA deletion syndrome, also known as Pearson syndrome. Fecal elastase was initially normal, but now it is ,15 μg/g (normal ,200), consistent with severe pancreatic insufficiency. We have begun pancreatic ...
sideroblastic anemia
A decade ago, Brooks McMurrays routine check-up was anything but routine. The suburban Boston boys spleen was enlarged. His red blood cell count was low and the cells were very small and very pale, which suggested a serious iron deficiency anemia. The family pediatrician referred McMurray, now a 19-year-old college freshman, to Dana-Farber/Boston Childrens Cancer and Blood Disorders Center.. There hematologists discovered the boy had unexpectedly high iron levels. Together with pathologist Mark Fleming, MD, DPhil, they solved the mystery. McMurray has congenital sideroblastic anemia, an inherited blood disorder so rare that fewer than 1,000 cases have been reported worldwide. Iron was getting stuck in the wrong place in the precursor red blood cells developing in his bone marrow. …. ...
Best Sideroblastic Anemia Doctor in Kolkata, Sideroblastic Anemia Doctors | Credihealth
Find the best sideroblastic anemia doctors in Kolkata. Get guidance from medical experts to select sideroblastic anemia specialist in Kolkata from trusted hospitals - credihealth.com
5-aminolevulinate synthase, erythroid-specific, mitochondrial
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008 ...
Compassionate Use of Metvix® (Methyl Aminolevulinate) Photodynamic Therapy (PDT) in Subjects With Field Actinic Keratoses,...
Metvix (methyl aminolevulinate) (MAL), Photodynamic Therapy (PDT), cream, 160 mg/g. MAL cream will be applied for 3 hours then will be removed. The target area will then be exposed to red light (using a large-field LED light source: Aktilite 128) for 7 to 10 minutes at a dosage of 37 J/cm² ...
Human Aminolevulinate Delta Dehydratase (ALAD) ELISA Kit, Cat#EKU02314 - Biomatik
You may return most new, unopened items within 30 days of delivery for a full refund. Well also pay the return shipping costs if the return is a result of our error (you received an incorrect or defective item, etc.).. You should expect to receive your refund within four weeks of giving your package to the return shipper, however, in many cases you will receive a refund more quickly. This time period includes the transit time for us to receive your return from the shipper (5 to 10 business days), the time it takes us to process your return once we receive it (3 to 5 business days), and the time it takes your bank to process our refund request (5 to 10 business days).. If you need to return an item, simply login to your account, view the order using the Complete Orders link under the My Account menu and click the Return Item(s) button. Well notify you via e-mail of your refund once weve received and processed the returned item.. ...
Long-term sucrose and glucose consumption decreases the δ-aminolevulinate dehydratase activity in mice
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August 2017 - Small-Molecule Inhibitors of Protein Interactions
Glutamate-1-semialdehyde-2,1-aminomutase (GSAM) catalyzes the isomerization of glutamate-1-semialdehyde (GSA) to 5-aminolevulinate (ALA) and is distributed in archaea, most bacteria and plants. of DAVA (Fig. 1 ?, step 2 2). The intermediate DAVA is definitely then produced accompanied by the formation of an internal aldimine between PLP and the active-site lysine part chain (Fig. 1 ?, step… Read more Glutamate-1-semialdehyde-2,1-aminomutase (GSAM) catalyzes the isomerization of glutamate-1-semialdehyde (GSA) to 5-aminolevulinate (ALA). ...
Sideroblastic Anemias - Hematology and Oncology - Merck Manuals Professional Edition
Learn about the causes, symptoms, diagnosis & treatment of Anemias Caused by Deficient Erythropoiesis from the Professional Version of the Merck Manuals.
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY; SIDBA3 | MENDELIAN.CO
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY; SIDBA3 description, symptoms and related genes. Get the complete information in our medical search en
Erythropoietic porphyria - Wikipedia
X-linked sideroblastic anemia or X-linked dominant erythropoietic protoporphyria, associated with ALAS2 (aminolevulinic acid synthase), has also been described. X-linked dominant erythropoietic protoporphyria (XDEPP) is caused by a gain of function mutation in the ALAS2 (5-aminolevulinate synthase) gene; that gene encodes the very first enzyme in the heme biosynthetic pathway. The mutation is caused by a frameshift mutation caused by one of two deletions in the ALAS2 exon 11, either c. 1706-1709 delAGTG or c. 1699-1700 delAT. This alters the 19th and 20th residues of the C-terminal domain thereby altering the secondary structure of the enzyme. The delAT mutation only occurred in one family studied whereas the delAGTG mutation occurred in several genetically distinct families. The delAGTG causes a loss of an α-helix which is replaced by a β-sheet. Previously known mutations in the ALAS2 resulted in a loss-of-function mutation causing X-linked sideroblastic anemia. Erythropoietic ...
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic...
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA for mitochondrial protein synthesis. Here we describe 14 individuals from 11 families presenting with sideroblastic anemia and YARS2 variants that we identified using a sideroblastic anemia gene panel or exome sequencing. The phenotype of these patients ranged from MLASA to isolated congenital sideroblastic anemia. As in previous cases, inter- and intra-familial phenotypic variability was observed, however, this report includes the first cases with isolated sideroblastic anemia and patients with biallelic YARS2 variants that have no clinically ascertainable phenotype. We identified ten novel YARS2 variants and three previously reported variants. In vitro amino-acylation assays of five novel missense variants showed that three had less effect on the ...
Idiopathic sideroblastic anemia | definition of idiopathic sideroblastic anemia by Medical dictionary
Looking for online definition of idiopathic sideroblastic anemia in the Medical Dictionary? idiopathic sideroblastic anemia explanation free. What is idiopathic sideroblastic anemia? Meaning of idiopathic sideroblastic anemia medical term. What does idiopathic sideroblastic anemia mean?
Sideroblastic Anemia. Basic Information, Causes, Diagnosis and Treatment of Sideroblastic Anemia
Sideroblastic Anemia. Basic Information, Causes, Diagnosis and Treatment of Sideroblastic Anemia. Primary Hereditary Sideroblastic Anemia. Primary Acquired Refractory Anemia With Ringed Sideroblasts (RARS). Sideroblastic Anemia Information Including: BASIC INFORMATION, SIGNS AND SYMPTOMS, EPIDEMIOLOGY & DEMOGRAPHICS, PHYSICAL FINDINGS & CLINICAL PRESENTATION, LABORATORY TESTS. DIAGNOSIS, TREATMENT and more
ALAS2 gene - Genetics Home Reference - NIH
At least 50 mutations that cause X-linked sideroblastic anemia have been identified in the ALAS2 gene. Almost all of these mutations change single protein building blocks (amino acids) in erythroid ALA-synthase. These changes impair the activity of the enzyme, which disrupts the normal production of heme in developing red blood cells. A reduction in the amount of heme prevents these cells from making enough hemoglobin. Because almost all of the iron transported into erythroblasts is normally incorporated into heme, the reduced production of heme leads to a buildup of excess iron in these cells. Additionally, the body attempts to compensate for the hemoglobin shortage by absorbing more iron from the diet. This buildup of excess iron can damage the bodys organs. Low hemoglobin levels and the resulting accumulation of iron in the bodys organs lead to the characteristic features of X-linked sideroblastic anemia. ...
Hereditary sideroblastic anemia
The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism ({18:Fleming, 2002 ...
Comparative study of effect of inorganic lead and cadmium on blood δ-aminolevulinate dehydratase in man | Occupational &...
Lauwerys, R. R., Buchet, J.-P., and Roels, H. A. (1973).British Journal of Industrial Medicine,30, 359-364. Comparative study of effect of inorganic lead and cadmium on blood δ-aminolevulinate dehydratase in man. δ-Aminolevulinate dehydratase (ALA1-D) of red blood cells, lead concentration in blood (Pb-B) and in urine (Pb-U), cadmium concentration in blood (Cd-B) and in urine (Cd-U), and ALA in urine (ALA-U) were measured in 77 workers occupationally exposed to cadmium, and in 73 control workers.. An excellent negative correlation was found between log ALA-D and Pb-B (r = - 0·660) or Pb-U (r = - 0·501), but no significant correlation was found between Cd-B and log ALA-D activity.. Unlike ALA-D, ALA-U is not correlated with Pb and Pb-U in the `normal range of Pb concentration investigated. Mean ALA-D activity in smokers is lower than in nonsmokers, and this is probably related to the fact that a higher mean Pb-B concentration is found in smokers than in nonsmokers.. It is clear from this ...
Gene Responsible For A Rare Form Of Congenital Anemia Identified
The latest electronic edition of the journal Nature Genetics reports the discovery of a new gene responsible for congenital sideroblastic anemia.
JCI - Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia
Sequencing. Except as noted, DNA was prepared from peripheral blood using the PureGene DNA isolation kit (Gentra). For Sanger sequencing, the HSCB promoter region (c.-250 to c.-1), exons, and intron-exon junctions were amplified and sequenced using the primers described in Supplemental Table 1 and analyzed with Sequencher 5.4.1 (Gene Codes Corp.). Paired-end whole exome sequencing (WES) libraries were prepared with the Agilent SureSelect V5 exon selection kit and sequenced to a median depth of ~100× with 100 bp paired-end reads on an Illumina NextSeq 2500 instrument. Data were processed on an internally validated pipeline and analyzed on the WuXi NextCODE genomics platform (www.wuxinextcode.com).. Cell culture. Primary fibroblasts and HeLa cells were cultured in DMEM (11965-092, Gibco) and K562 cells in RPMI 1640 medium (11875-093, Gibco). All media were supplemented with 10% FBS (MilliporeSigma), 2 mM glutamine (Corning), and 100 IU/mL penicillin/100 μg/mL streptomycin (Corning) and described ...
Anemia, sideroblastic, pyridoxine-refractory autosomal recessive | definition of anemia, sideroblastic, pyridoxine-refractory...
Looking for online definition of anemia, sideroblastic, pyridoxine-refractory autosomal recessive in the Medical Dictionary? anemia, sideroblastic, pyridoxine-refractory autosomal recessive explanation free. What is anemia, sideroblastic, pyridoxine-refractory autosomal recessive? Meaning of anemia, sideroblastic, pyridoxine-refractory autosomal recessive medical term. What does anemia, sideroblastic, pyridoxine-refractory autosomal recessive mean?
ICD-10 Diagnosis Code D64.0 Hereditary sideroblastic anemia
Diagnosis Code D64.0 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
SACOL RS12725 - AureoWiki
MetabolismBiosynthesis of cofactors, prosthetic groups, and carriersHeme, porphyrin, and cobalamin5-aminolevulinic acid synthase (TIGR01821; EC 2.3.1.37; HMM-score: 184.5) ...
Anemia, Sideroblastic | 5-Minute Clinical Consult
Anemia, Sideroblastic answers are found in the 5-Minute Clinical Consult powered by Unbound Medicine. Available for iPhone, iPad, Android, and Web.
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Sideroblastic anemia -...
"Sideroblastic anemia" . Os 7 Tipos de Anemia e Seus Principais Sintomas. estrutural hereditário dos glóbulos vermelhos (Anemia de células falciformes), ou uma incapacidade para realizar ou utilizar a hemoglobina (Anemia sideroblástica). Então, confira Os 7 Tipos de Anemia
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene.
BACKGROUND: Pearson syndrome is a rare mitochondrial disorder characterized by sideroblastic anemia, liver disease, renal tubulopathy and exocrine pancreas deficiency. OBSERVATIONS: We describe a female infant suffering from anemia since birth who gr
FA Biochemistry Heme Synthesis Flashcards - Cram.com
Study Flashcards On FA Biochemistry Heme Synthesis at Cram.com. Quickly memorize the terms, phrases and much more. Cram.com makes it easy to get the grade you want!
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to...
TY - JOUR. T1 - 5-Aminolevulinate dehydratase porphyria. T2 - Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin. AU - Lahiji, Arian Pourmehdi. AU - Anderson, Karl E.. AU - Chan, Amy. AU - Simon, Amy. AU - Desnick, Robert J.. AU - Ramanujam, V. M.Sadagopa. N1 - Funding Information: This research was supported in part by the Porphyrias Consortium (U54DK083909), which is a part of the NCATS Rare Diseases Clinical Research Network, which is an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), funded through a collaboration between NCATS and the NIDDK, and also with the support of the Institute for Translational Sciences at the University of Texas Medical Branch, supported in part by a Clinical and Translational Science Award (2UL1TR001439-06) from NCATS, National Institutes of Health: and by the American Porphyria Foundation. Funding Information: This research was supported in part by the ...
Eldorado: Δ-Aminolevulinate dehydratase and glutathione peroxidase activity in Alzheimers disease
Alzheimers disease (AD) is a neurodegenerative pathology that affects elderly people all over the world. Several studies have demonstrated that oxidative stress is an aggravating factor for AD development and progression. Therefore, this study aimed to evaluate the activity of two oxidative stress markers, glutathione peroxidase (GPx) and δ -aminolevulinate dehydratase ( δ -ALA-D), as well as correlate them with blood metal levels and AD progression. For this purpose, 88 elderly individuals were divided in two groups: AD group (34 patients diagnosed with AD) and control group (34 subjects paired by age with the AD group). The Mini-Mental State Examination and the Clinical Dementia Rating (CDR ) were used as tools to classify the AD progression. GPx and δ -ALA-D activities were measured in all subjects through blood tests. Both enzymes activities were decreased in AD patients when compared to the age-matched control group, regardless of the CDR. Moreover, GPx activity was positively ...
ReP USP - Detalhe do registro: Delta-aminolevulinic acid induced autoxidation of hemoglobin
MONTEIRO, H P; ABDALLA, Dulcinéia Saes Parra; BECHARA, Etelvino José Henriques. Delta-aminolevulinic acid induced autoxidation of hemoglobin. Anais.. Roma: [s.n.], 1985 ...
British Library EThOS: Structure and function of tetrapyrrole biosynthesis enzymes: ALA synthase and cobalt chelatase
Modified tetrapyrroles are versatile compounds that are universally utilized by enzymes as co-factors in a myriad of enzyme cata lyzed reaction s. Examples include heme, the cofactor of hemoglobin and myoglobin, that carries and stores molecular oxygen in the blood and muscle respectively, and cobalamin a cofactor that is synthesized by prokaryotes and which is an important nutrient for humans. This work focuses on the enzymatic mechanism of metal chelation and in particular on the structural characterization of the cobalt-chelatases CbiK from Salmonella enterica and CbiX from Archaeoglobus /u/gidus that take part in the biosynthesis of cobalamin. Crystal structures of the enzyme-tetrapyrrole complex were obtained that reveal radically different modes of binding compared to the well characterized ferrochelatases. Furthermore protein structures reveal the evolutionary re lationships between cobaltochelatases from different organisms. The second part of this thesis is focusing on 5-aminolevulinic ...
Sideroblastic Anemia
An iron disorder and form of anemia resulting from the inability to incorporate iron into hemoglobin in red blood cells (RBCs); it is characterized by the buildup of iron within developing RBCs resulting in abnormal RBCs called sideroblasts. Since the RBCs cannot develop normally, this condition causes anemia ...
Macrocytic Anemia in Manifesting Females<...
Macrocytic Anemia in Manifesting Females Symptom Checker: Possible causes include Hereditary Sideroblastic Anemia & Macrocytic Anemia & Sideroblastic Anemia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Subcellular Localization of Iron and Heme Metabolism Related Proteins at Early Stages of Erythrophagocytosis - pdf descargar
Subcellular Localization of Iron and Heme Metabolism Related Proteins at Early Stages of Erythrophagocytosis. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
HS Codes - Taiwan vi 28.13.90 - Commerical phosphorus trisulphide
Lookup HS Codes for Taiwan vi 28.13.90 Commerical phosphorus trisulphide. Avalara LandedCosts helps determine your duty rates and other import taxes for Taiwan.
Human ALAD adenoviral particles Shirley - Science Marketplace
Biological Sciences Shirley, Cat.No. AD00876Z Description Adenovirus with ORF of aminolevulinate dehydratase (ALAD) with C terminal Flag and His tag....
Refdoc
Basal cell carcinoma (BCC) is the most common cancer affecting Caucasians and, due to its large size or to the poor condition of the patient, it can be difficult to treat it with conventional therapies: in these cases photodynamic therapy with methyl aminolevulinate (MAL-PDT) may represent a good option. A retrospective non-comparative follow-up study was performed to test the response of giant and large BCC to MAL-PDT. Twelve patients with 14 giant BCC (≥ 5 cm) and 5 patients with 5 large BCC (4-5 cm) were treated with MAL-PDT; they were evaluated 6 months after the end of the treatment to define the initial cure rate, and then at 12 and 36 months for the follow-up. At 6 months the initial cure rate for the 19 BCCs was 95% and at 36 months the overall long-term cure rate was 66%. The follow-up will last up to 5 years. MAL-PDT is a valid option for the treatment of giant and large BCC ...
Reactome | Heme biosynthesis
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
길랑 바레 증후군으로 오인된 중증의 감각운동 다발성 신경병증 환자에서 급성 간헐 포르피린증 선별의 중요성: 증례 보고
Acute intermittent porphyria is a type of acute hepatic porphyria that usually presents with gastrointestinal, neurological, and psychiatric symptoms. The common clinical manifestations of this condition include severe abdominal pain accompanied with nausea, vomiting, and ileus; and neurological symptoms, such as seizure, PRES, chronic neuropathic pain, psychosis, and motor-dominant polyneuropathy [5,6]. It is well known that antiepileptic medications, which induce hepatic cytochrome P450 enzymes, act as exacerbating factors of AIP, as do etomidate, ketamine, NSAIDs, and rifampin. Glucose acts as a suppressor of delta-aminolaevulinic acid synthase expression, which participates in the heme biosynthetic pathway. Circumstances such as starvation, which may lead to caloric deficiency, also exacerbate AIP, and can trigger an acute attack [1]. In the present case, phenytoin, valproic acid, topiramate, and etomidate were administered during ICU management, and starvation after laparoscopic operation ...
Plus it
Givosiran is a N-acetylgalactosamine (GalNAc)-conjugated RNA interference (RNAi) therapeutic that targets 5ʹ-aminolevulinate synthase 1 (ALAS1) messenger RNA (mRNA) in the liver and is currently marketed for the treatment of acute hepatic porphyria (AHP). Herein, nonclinical pharmacokinetic (PK) and absorption, distribution, metabolism, and excretion (ADME) properties of givosiran were characterized. Givosiran was completely absorbed after subcutaneous (SC) administration with relatively short plasma elimination t1/2 (less than 4 hours). Plasma exposure increased approximately dose proportionally with no accumulation after repeat doses. Plasma protein binding (PPB) was concentration dependent across all species tested and was around 90% at clinically relevant concentration in human. Givosiran predominantly distributed to the liver by asialoglycoprotein receptor (ASGPR)-mediated uptake, and the elimination t1/2 in the liver was significantly longer (~1 week). Givosiran was metabolized by ...
Determination of delta-aminolevulinic acid in blood plasma and urine by gas-liquid chromatography. - Semantic Scholar
Semantic Scholar extracted view of Determination of delta-aminolevulinic acid in blood plasma and urine by gas-liquid chromatography. by J. MacGee et al.
Differential effects of mitomycin C on constitutive and inducible gene expression in the chick embryo liver in vivo:...
Differential Effects of Mitomycin C on Constitutive and Inducible Gene Expression in the Chicken Embryo Liver In Vivo: Correlation with Developmental Age and Chromatin Structure A Thesis Submitted to the Faculty in partial fulfillment of the requirements for the degree of Doctor of Philosophy in Pharmacology and Toxicology by Rosemary M. Caron DARTMOUTH COLLEGE Hanover, New Hampshire October 13, 1995 ...
Primary acquired sideroblastic erythropoiesis in non-anaemic and minimally anaemic subjects. | Journal of Clinical Pathology
Six patients had primary sideroblastic erythropoiesis together with a haemoglobin concentration of 12.0 g/dl or higher. In four cases this was associated with macrocytosis. Other abnormalities included failure of erythroid progenitor growth from peripheral blood in three cases and occasional dysplastic appearances in neutrophils and megakaryocytes. Sideroblastic erythropoiesis seems to be an early manifestation of the myelodysplastic syndrome and may present clinically at a pre-anaemic stage.. ...
THE DYSPLASTIC AND SIDEROBLASTIC ANEMIAS | Hematology in Clinical Practice, 5e | AccessHemOnc | McGraw-Hill Medical
The pathophysiology of myelodysplasia is complex. There is evidence for impairments in stem cell growth, progenitor maturation, and both growth factor production and progenitor responsiveness. The presence of ineffective hematopoiesis (increased apoptosis of maturing marrow precursors) is a hallmark of myelodysplasia. It appears to correlate in part with CD95 expression and persistent high levels of Fas receptor, resulting in increased fas-ligand apoptosis. Upregulation of the cytokines tumor necrosis factor α (TNF-α) and interleukin 1β (IL-1β) also may play a role in promoting apoptosis of long-term hematopoietic stem cells (LT-HSC) and committed precursors in myelodysplastic marrows. Vascular endothelial growth factor (VEGF) overproduction is thought to be involved in the promotion of myeloblastic elements, and perhaps the evolution to acute myeloid leukemia (AML). ...
THE DYSPLASTIC AND SIDEROBLASTIC ANEMIAS | Hematology in Clinical Practice, 5e | AccessBiomedical Science | McGraw-Hill Medical
The pathophysiology of myelodysplasia is complex. There is evidence for impairments in stem cell growth, progenitor maturation, and both growth factor production and progenitor responsiveness. The presence of ineffective hematopoiesis (increased apoptosis of maturing marrow precursors) is a hallmark of myelodysplasia. It appears to correlate in part with CD95 expression and persistent high levels of Fas receptor, resulting in increased fas-ligand apoptosis. Upregulation of the cytokines tumor necrosis factor α (TNF-α) and interleukin 1β (IL-1β) also may play a role in promoting apoptosis of long-term hematopoietic stem cells (LT-HSC) and committed precursors in myelodysplastic marrows. Vascular endothelial growth factor (VEGF) overproduction is thought to be involved in the promotion of myeloblastic elements, and perhaps the evolution to acute myeloid leukemia (AML). ...
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