Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease. Eleven patients experienced adverse events related to treatment, but none discontinued. The young age at which these patients initiated therapy may have contributed to their improved respon …

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Castilla, C.; Paris, H.; Murat, J.C., 1979: Evidence of a similar distribution of neutral alpha glucosidase ec 3.2.1.3 and glucose 6 phosphatase in sub cellular fractions of rat and trout liver

Global Lysosomal Alpha Glucosidase Sales Market Report 2017 is a market research report available at US $4000 for a Single User PDF License from RnR Market Research Reports Library.

Alpha-glucosidase inhibitors (AGIs) are a class of drugs used to treat type 2 diabetes. The key benefit of AGIs is that they do not cause hypoglycemia (low blood sugar) or weight gain and are taken orally. These drugs help lower blood sugar levels in the body by blocking the breakdown of starchy foods like bread and potatoes in the intestine and thus delaying the absorption of carbohydrates, according to the American Diabetes Association They also slow down the breakdown of some sugars, like table sugar. Because they work to slow digestion, AGIs are taken at the start of a meal. The alpha-glucosidase inhibitors available today (with brand names in parenthesis) are: acarbose (Precose) miglitol (Glyset) An ADA published article states that

Alpha-glucosidase (EC 3.2.1.20, maltase, glucoinvertase, glucosidosucrase, maltase-glucoamylase, alpha-glucopyranosidase, glucosidoinvertase, alpha-D-glucosidase, alpha-glucoside hydrolase, alpha-1,4-glucosidase, alpha-D-glucoside glucohydrolase) is a glucosidase located in the brush border of the small intestine that acts upon α(1→4) bonds. This is in contrast to beta-glucosidase. Alpha-glucosidase breaks down starch and disaccharides to glucose. Maltase, a similar enzyme that cleaves maltose, is nearly functionally equivalent. Other glucosidases include: Cellulase Beta-glucosidase Debranching enzyme Alpha-glucosidase hydrolyzes terminal non-reducing (1→4)-linked alpha-glucose residues to release a single alpha-glucose molecule. Alpha-glucosidase is a carbohydrate-hydrolase that releases alpha-glucose as opposed to beta-glucose. Beta-glucose residues can be released by glucoamylase, a functionally similar enzyme. The substrate selectivity of alpha-glucosidase is due to subsite affinities ...

This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016 ...

This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene.[6] ...

In general terms, skeletal muscle mass is maintained by a precise dynamic balance between protein synthesis and degradation. Even a small sustained decrease in synthesis or increase in protein breakdown can affect the equilibrium and lead to atrophy (Sandri, 2016). At a molecular level, the reduced rate of protein synthesis is associated with impaired signaling through mTORC1, a major regulator of this anabolic process. This study is the first attempt to systematically analyze mTOR signaling pathway in Pompe disease, an inherited deficiency of lysosomal acid alpha‐glucosidase, in which the primary defect-intralysosomal glycogen accumulation-leads to numerous secondary abnormalities including defective autophagy, aberrant mitochondria and calcium homeostasis, and severe muscle wasting (reviewed in Lim et al 2014). We have found that the basal activity of mTOR in Pompe muscle cells is reduced; that mTOR is less sensitive to starvation and refeeding; that the relationship between the mTOR ...

In general terms, skeletal muscle mass is maintained by a precise dynamic balance between protein synthesis and degradation. Even a small sustained decrease in synthesis or increase in protein breakdown can affect the equilibrium and lead to atrophy (Sandri, 2016). At a molecular level, the reduced rate of protein synthesis is associated with impaired signaling through mTORC1, a major regulator of this anabolic process. This study is the first attempt to systematically analyze mTOR signaling pathway in Pompe disease, an inherited deficiency of lysosomal acid alpha‐glucosidase, in which the primary defect-intralysosomal glycogen accumulation-leads to numerous secondary abnormalities including defective autophagy, aberrant mitochondria and calcium homeostasis, and severe muscle wasting (reviewed in Lim et al 2014). We have found that the basal activity of mTOR in Pompe muscle cells is reduced; that mTOR is less sensitive to starvation and refeeding; that the relationship between the mTOR ...

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Alpha-glucosidase inhibitors work by ambitious and reversible inhibition of those intestinal enzymes. They diminish the digestion of carbohydrates and delay glucose absorption. This happens in a smaller and moderate rise in blood glucose levels following meals, and efficiently throughout the day.. AGIs have exhibited in reducing post-meal blood sugars and therefore helping to lower HbA1c, especially while used in combination with other diabetes drugs.. ...

alpha Glucosidase II antibody [N1N2], N-term (glucosidase, alpha; neutral AB) for ICC/IF, IHC-P, WB. Anti-alpha Glucosidase II pAb (GTX102237) is tested in Human, Mouse samples. 100% Ab-Assurance.

Alpha-glucosidase inhibitors, a class of drugs also known as starch blockers, function by slowing the absorption of certain carbohydrates in the gastrointestinal tract.

An enzyme which removes the last 1,4-linked alpha-D-glucose residue from the nonreducing end of a long chain (or polymer) of such residues, making an al...

Im sorry Nancy, but they are two completely different enzymes, that catalyze two totally different reactions. The only similarities are that they are both acid hydrolases, and are present in lysosomes, but thats like saying a Kia and a Lexus are both cars. Acid phosphatase (EC 3.1.3.2) catalyzes the hydrolysis of esters of orthophosphoric acid. It also nydrolyses pyrophosphate compounds and acts as a transphosphorylase. It has an optimum pH of between 4 and 5. Acid phosphatase is mainly found in lysosomes. However there are also extralysosomal acid phosphatases found in endoplasmic reticulum. It is possible to differentiate the acid phosphatases by their sensitivity to various inhibitors. Acid phosphatase activity is high in spleen, kidney, liver, intestine, and adrenals. Acid maltase (EC 3.1.3.20), also know as acid alpha-d-glucosidase, in simple terms breaks down maltose to glucose. It has a optimal pH of 5. Acid maltase is present in liver kidney and brain. A deficiency of acid maltase ...

A Century of Diabetes Care Pump therapy Human insulin Insulin analogs First human treated NPH insulin Type Insulin therapy 1920 Type Diet Sulfonylureas Alpha-glucosidase Inhibitors Biguanide Glitazones Meglitinides Insulin therapy Type 1 Since the early 1920s the only therapy available for type 1 diabetes has been insulin. (Banting and Best discovered insulin 1921) Improvements in insulin delivery have included pump therapy (mid-1970s), transition from animal to human insulin (1980s)1979 and the introduction of rapid acting insulin analogs (1990s) Type 2 Altlhough insulin has been available for type 2 diabetes patients since the 1920s, the major development has been the introduction of a number of oral agents: Sulfonylureas, the first available oral hypoglycemic agents (1956) Metformin (biguanides), although available in Europe for many years, recently available in this country since 1995 Alpha glucosidase inhibitors (starch blockers), thiazolidinediones (glitazones) and megltinides, agents

Aims: This paper mentions of the investigation of the enzymes binding to Voglibose and the choice of the enzyme which is suitable for drug enzyme interaction as used in biosensing. Voglibose is an antidiabetic drug which is reactive and hence used in very low concentrations. The existing methods of analysis of this drug are associated with certain disadvantages. Hence there is a need to establish alternative and simpler method of analysis which could be based on biosensing. The paper focuses on identification of the enzyme binding to the drug Voglibose.. Study Design: In this work there are two enzyme namely alpha amylase and alpha glucosidase which are considered as the potential targets for drug enzyme interaction for the drug Voglibose. The study is based on two approaches. The first one is molecular docking process done to verify the inhibition activity of the enzyme by the drug and the next method is chemical analysis to confirm the results obtained in molecular docking.. Place and Duration ...

Neutral a-glucosidase (NAG) activity in human seminal plasma is an important indicator for epididymis functionality. In the present study, the classic World Health Organization (WHO) method has been adapted to enhance assay robustness. Changes include modified enzyme reaction buffer composition and usage of an alternative enzyme inhibitor for background correction (glucose instead of castanospermine). Both methods have been tested in parallel on 144 semen samples, obtained from 94 patients/donors and 50 vasectomized men (negative control), respectively. Passing-Bablok regression analysis demonstrated equal assay performance. In terms of assay validation, analytical specificity, detection limit, measuring range, precision, and cut-off values have been calculated. These data confirm that the adapted method is a reliable, improved tool for NAG analysis in human semen.

Neutral a-glucosidase (NAG) activity in human seminal plasma is an important indicator for epididymis functionality. In the present study, the classic World Health Organization (WHO) method has been adapted to enhance assay robustness. Changes include modified enzyme reaction buffer composition and usage of an alternative enzyme inhibitor for background correction (glucose instead of castanospermine). Both methods have been tested in parallel on 144 semen samples, obtained from 94 patients/donors and 50 vasectomized men (negative control), respectively. Passing-Bablok regression analysis demonstrated equal assay performance. In terms of assay validation, analytical specificity, detection limit, measuring range, precision, and cut-off values have been calculated. These data confirm that the adapted method is a reliable, improved tool for NAG analysis in human semen.

Professionals recommend that, most of hypoglycemic drugs may have a harmful effect on the body. Sulfonylurea and glinides can cause liver damage. Biguanides also lead to gastrointestinal reaction and lactic acidosis, or anaphylaxis and large cell anemia reaction for the little users. As to alpha glucosidase inhibitor, the main side effect is causing gastrointestinal reaction, and which may cause abdominal distension, stomachache, diarrhea and intestinal exhaust too much. Besides, it is reported that the drugs might lead to severe hepatic lesion. Insulin sensitizer can not only trigger liver damage３but also increase the blood volume and the burden of heart ...

Alpha glucosidase inhibitor --- ( Kwon, Y., Apostolidis, E., Labbe, R. and Shetty, K. (2007). Inhibition of Staphylococcus aureus by Phenolic Phytochemicals of Selected Clonal Herbs Species of Lamiaceae Family and Likely Mode of Action through Proline Oxidation. Food Biotechnology, 21(1), pp.71-89 ...

D,L-1,2-Anhydro-myo-inositol; Inhibits alpha-glucosidase activity; specific inhibitor of glucocerebrosidase in cultured cells ...

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In the present study a comparative investigation on the divergence of α-glucosidase (α-Gls) enzyme was performed. The complete amino acid sequences of different species as stated in the materials and methods were aligned. The mammalian α-Gls enzymes are heterodimeric proteins with α-glucosidic activity. The enzymes contain a region responsible for the catalytic site for an enzyme termed glucoamylase. The comparative results from the present investigation showed that human and chimpanzee α-glucosidases had the closest similarity, and may have come from the same ancestor. There are two conserve P-type domains in human MGAM located in positions 88-134 and 954-1000 [16], which is completely conserved in chimpanzee`s enzyme. These domains have some synonymous amino acid alterations in rat and mouse MGAM. Interestingly, these domains are absent in plants and bacterial counterparts. There are two catalytic aspartic acid residues in mammalian enzymes which due to their nucleophilic nature has a ...

Figure 6: Total phenolics and Antioxidant activity of long term stored apples from Grocery stores (Levels are maintained and in several cases increased with post-harvest storage) Figure 7: Long term stored grocery store varieties maintain and in some cases increase the alpha-glucosidase bioactive function in proportion to total phenolics and antioxidant activity. Table 1: Quercetin Content as Determined by HPLC: units: micrograms/gram peel) Water Extracts of Peel Ethanol Extracts of Peel Ginger gold 128 ± 5 142 ± 3 Honeycrisp 144 ± 3 554 ± 5 Gala 93 ± 2 68 ± 1 McIntosh 101 ± 2 534 ± 6 Jonagold 286 ± 5 213 ± 2 Empire 41 ± 1 327 ± 5 Braeburn 390 ± 3 419 ± 6 Golden delicious 84 ± 3 119 ± 3 Fuji 136 ± 2 74 ± 2 Red delicious 133 ± 3 171 ± 3 The peel samples have higher diabetes relevant alpha-glucosidase inhibitory activity , which the target of the current pharmaceutical acarabose for this early stages type 2 diabetes target (Figure 1& 5). All varieties have good baseline and ...

Voglibose is an alpha-glucosidase inhibitor used for lowering post-prandial blood glucose levels in people with diabetes mellitus. It is made in India by Ranbaxy Labs and sold under the trade name Volix.

Mgam - mouse gene knockout kit via CRISPR, 1 kit. |dl||dt|Kit Component:|/dt||dd|- |strong|KN310054G1|/strong|, Mgam gRNA vector 1 in |a href=http://www.origene.com/CRISPR-CAS9/Detail.

When programmed with yeast prepro-α-factor mRNA, the heterologous reticulocyte/dog pancreas translation system synthesizes two pheromone related polypeptides, a cytosolically located primary translation product (pp-α-Fcyt, 21 kDa) and a membrane-specific and multiply glycosylated e-factor precursor (pp-α-F3, 27.5 kDa). Glycosylation of the membrane specific pp-α-F3 species is competitively inhibited by synthetic peptides containing the consensus sequence Asn-Xaa-Thr as indicated by a shift of its molecular mass from 27.5 kDa to about 19.5 kDa (pp-α-F0), whereas the primary translation product pp-α-F cyt is not affected. Likewise, only the glycosylated pp-α-F3 structure is digested by Endo H yielding a polypeptide with a molecular mass between PP-α-F0 and pp-α-F cyt. These observations strongly suggest that the primary translation product is proteolytically processed during/on its translocation into the lumen of the microsomal vesicles. We believe that this proteolytic processing is due ...

An alpha-glucosidase test can reveal a secretory dysfunction of the epididymis and reduced quality of the semen caused by this disorder.

2QLY: Human intestinal maltase-glucoamylase: crystal structure of the N-terminal catalytic subunit and basis of inhibition and substrate specificity

This is a beta-barrel-like structure just N-terminal to the catalytic domain of maltase-glucoamylase in eukaryotes. It contributes to the architecture of the substrate-binding site by donating a loop that comes into close contact with two regions in the catalytic domain, thereby creating the site [ (PUBMED:18036614) ]. ...

Pompe disease is caused by a deficiency of a critical enzyme in the body called acid alpha glucosidase (GAA). Normally, GAA is used by the bodys cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In infants with severe cases of Pompe disease (called Classical Infantile Pompe disease), an excessive amount of glycogen accumulates and is stored in various tissues, especially heart, skeletal muscle, and liver, which prevents their normal function. This study being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for Pompe disease. Patients diagnosed with Classical Infantile Pompe disease who have a small, but inactive, amount of natural GAA enzyme present in their bodies (called Cross-Reacting Immunologic Material-Positive or CRIM (+) patients), will be studied ...

Pompe disease (also known as glycogen storage disease type II, GSD-II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the bodys cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for Pompe disease. Patients diagnosed with infantile-onset Pompe disease who are less than or equal to 6 months old will be studied ...

This report demonstrates that a single intravenous administration of a gene therapy vector can potentially result in the correction of all affected muscles in a mouse model of a human genetic muscle disease. These results were achieved by capitalizing both on the positive attributes of modified adenovirus-based vectoring systems and receptor-mediated lysosomal targeting of enzymes. The muscle disease treated, glycogen storage disease type II, is a lysosomal storage disorder that manifests as a progressive myopathy, secondary to massive glycogen accumulations in the skeletal and/or cardiac muscles of affected individuals. We demonstrated that a single intravenous administration of a modified Ad vector encoding human acid alpha-glucosidase (GAA) resulted in efficient hepatic transduction and secretion of high levels of the precursor GAA proenzyme into the plasma of treated animals. Subsequently, systemic distribution and uptake of the proenzyme into the skeletal and cardiac muscles of the GAA-knockout

Alglucosidase alfa contains an enzyme that naturally occurs in the body in healthy people. Some people lack this enzyme because of a genetic disorder. Alglucosidase alfa helps replace this missing enzyme in such people. Alglucosidase alfa is used to treat a glycogen storage disorder called Pompe disease, (also called...

Abstract of Dr. Amalfitanos proposal: Acid Maltase Deficiency (AMD, also known as Pompe Disease), is due to a patients inability to produce enough acid alpha glucosidase (GAA). This results in glycogen accumulation in the patients limb muscles, as well as cardiac muscles (in those patients affected by the early age onset (infantile) form of the disease). Based upon published results using animal models, intravenous infusion of recombinant rhGAA (Myozyme® or Lumizyme®) at current doses is not adequate to provide maximal improvement to so-treated AMD/Pompe patients. However, current production methods for recombinant proteins such as GAA may not be capable of producing enough GAA enzyme to support higher and more frequent dosing. Our multiple, previously published studies confirm that a single Gene Therapy treatment of most AMD/Pompe patients can potentially overcome this problem, by allowing for high level production of GAA from the livers of AMD/Pompe patients for a continuous period of ...

Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therapy is available for Pompe disease; however, it has limited efficacy, has high immunogenicity, and fails to correct pathological glycogen accumulation in nervous tissue and skeletal muscle. Using bioinformatics analysis and protein engineering, we developed transgenes encoding GAA that could be expressed and secreted by hepatocytes. Then, we used adeno-associated virus (AAV) vectors optimized for hepatic expression to deliver the GAA transgenes to Gaa knockout (Gaa−/−) mice, a model of Pompe disease. Therapeutic gene transfer to the liver rescued glycogen accumulation in muscle and the central nervous system, and ameliorated cardiac hypertrophy as well as muscle and respiratory dysfunction in the Gaa−/− mice; mouse survival was also ...

[Effect of Psidium guajava leaf extract on alpha-glucosidase activity in small intestine of diabetic mouse].: The GPL water-soluble extract possesses the potent

Pompe disease is an inherited disorder characterized by muscle weakness and breathing problems. In this disorder, affected individuals cannot break down glycogen due to a shortage of the enzyme acid alpha-glucosidase. Glycogen then builds up to toxic levels in the lysosomes, damaging the bodys organs and tissues. There are three types of Pompe disease: classic infantile-onset, non-classic infantile-onset, and late-onset. The classic infantile-onset form is characterized by muscle weakness, poor muscle tone, hepatomegaly, and heart defects. Affected infants begin to have symptoms within the first few months of life, and experience a failure to thrive. Non-classic infantile-onset is characterized by delayed motor skills and progressive muscle weakness. Affected individuals usually die early in childhood. Late-onset Pompe disease is much milder and less severe than the infantile-onset forms. It is characterized by progressive muscle weakness and breathing problems that may lead to respiratory ...

Inclusion Criteria:. - The patient or the patients legal guardian(s) must provide written informed consent prior to any study-related procedures being performed;. - The patient must have a diagnosis of infantile-onset Pompe disease as defined by: a) The patient has/had onset of symptoms compatible with Pompe disease by 12 months of age adjusted for gestation, if necessary. Age at onset of symptoms must be documented in the patients medical record(s). AND b) The patient has documented GAA deficiency, i.e., below the laboratory-defined cut-off value as determined by the laboratory performing the GAA enzyme activity assay. Tissues used for determination of GAA deficiency may include blood, muscle or skin fibroblasts.. - Patients less than or equal to 6 months of age must have one of the following: a) Cardiomyopathy, defined as a LVMI determined by cross-sectional echocardiography; OR b) a requirement for invasive or non-invasive ventilatory support, where non-invasive ventilation is defined as ...

Pompe disease, also called glycogen storage disease type II (GSD-II), is an autosomal recessive disorder due to a deficiency of the lysosomal enzyme acid alpha-1,4-glucosidase (abbreviated GAA). The function of the GAA enzyme, also known as acid maltase, is to breakdown glycogen in the lysosome. Absent or reduced GAA activity results in accumulation of glycogen within the lysosome, particularly in muscle cells. GSD-II is divided into two forms; an infantile form and a juvenile/adult onset form. In individuals with the infantile form of Pompe disease there is less than 1% of normal enzymatic activity, whereas in the juvenile/adult onset form there is some residual enzymatic activity. In Pompe disease, affected infants are severely hypotonic and have cardiomegaly. In addition, patients may have an enlarged tongue. The disease is usually fatal within the first year of life due cardiorespiratory failure. The clinical presentation in the juvenile/adult onset form (onset after 12 months of age) is ...

by CAP , Feb 15, 2017 , Press Releases. CRANBURY, N.J. and SAN DIEGO, Feb. 15, 2017 (GLOBE NEWSWIRE) - Amicus Therapeutics (Nasdaq:FOLD), a global biotechnology company at the forefront of rare and orphan diseases, today presented new scientific findings and preclinical data on functional outcomes in an oral presentation and poster1 at the 13thAnnual WORLDSymposium™ in San Diego, CA. ATB200/AT2221 is a novel treatment paradigm that consists of ATB200, a unique recombinant human acid alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures, particularly mannose-6 phosphate (M6P), to enhance uptake in muscles, co-administered with AT2221, a pharmacological chaperone designed to stabilize ERT in circulation.. ...

Pompe disease is a genetic condition that is caused by a specific gene in the body called GAA not working correctly. Normally, GAA makes an enzyme called alpha-glucosidase, also known as acid maltase. This enzyme breaks down glycogen in certain parts of cells called the lysosomes. Pompe disease is part of a larger group of about 50 conditions called lysosomal storage diseases, which all involve the lysosome not working properly. Glycogen is a type of carbohydrate, or nutrient, that needs to be broken down into a smaller form for our bodies to use. When GAA doesnt work, it cant make acid maltase and glycogen builds up in the cells instead of being broken down. Excess glycogen damages cells and causes progressive muscle weakness (myopathy), including the muscles needed for the body to move (skeletal muscle), the heart to pump (cardiac muscle), and the lungs to breathe (respiratory muscle). The symptoms of Pompe disease can start as early as the newborn period or even before birth, but some types ...

When the film Extraordinary Measures debuts on January 22, it will tell the story of one mans quest to obtain treatment for his children who suffer from a rare metabolic disorder called Pompe disease.. The real story began 20 years ago at Duke University Medical Center when pediatric geneticist Y.T. Chen, MD, PhD, began work on the first and only life-saving treatment for Pompe. In 2006, the FDA approved the use of Myozyme, which is manufactured and marketed by Genzyme Corporation, based on Dukes research. As a result, the children portrayed in the movie, and those who are living with Pompe worldwide, were treated with Myozyme and given their first fighting chance at life.. What Is Pompe Disease?. Pompe disease results when mutations occur in the gene that triggers the production of an enzyme called acid alpha-glucosidase (GAA). That enzyme is responsible for helping the body break down glycogen (sugar).. When it is absent or deficient the glycogen builds up in the bodys cells, damages ...

Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid α-glucosidase deficiency. The disease is inherited as an autosomal recessive trait with a spectrum of clinical phenotypes. We have investigated 29 cases of GSDII and thereby identified 55 pathogenic mutations of the acid α-glucosidase gene (GAA) encoding acid maltase. There were 34 different mutations identified, 22 of which were novel. All of the missense mutations and two other mutations with an unpredictable effect on acid α-glucosidase synthesis and function were transiently expressed in COS cells. The effect of a novel splice-site mutation was investigated by real-time PCR analysis. The outcome of our analysis underscores the notion that the clinical phenotype of GSDII is largely dictated by the nature of the mutations in the GAA alleles. This genotype-phenotype correlation makes DNA analysis a valuable tool to help predict the clinical course of the disease.. ...

Recent studies have established the regulatory role of transcription factor EB (TFEB) in the lysosomal/autophagosomal fusion and exocytosis. We have shown that transcription factor E3 (TFE3) is another master regulator of lysosomal/autophagosomal biogenesis. ChIP-seq in muscle cells identified , 1000 TFE3 direct targets which are similar to known TFEB binding locations. The studies on the regulatory role of TFEB/TFE3 stem from our longstanding interest in Pompe disease, a lysosomal glycogen storage disorder caused by a deficiency of acid alpha glucosidase (GAA). In this severe myopathy, lysosomal glycogen accumulation leads to excessive autophagy and inhibition of the autophagic flux. Autophagic defect is associated with poor muscle response to enzyme replacement therapy. An alternative approach relies on the ability of TFEB and TFE3 to re-establish autophagic flux and induce lysosomal exocytosis in affected muscles. Indeed, overexpression of TFEB or TFE3 in Pompe muscle reduced the lysosomal ...

Free Essay: Introduction Pompe Disease is also referred to as GAA Deficiency, Glycogenesis Type II, and Glycogen Storage Disease Type II. It is a lysosomal...

Infantile-onset Pompe disease is definitely an autosomal recessive disorder caused by the total loss of lysosomal glycogen-hydrolyzing enzyme acid -glucosidase (GAA) activity, which results in lysosomal glycogen build up and prominent cardiac and skeletal muscle pathology. higher electrophoretic mobility compared with control iPSC-CMs. Brefeldin A caused disruption of the Golgi in control iPSC-CMs reproduced the higher mobility forms of the LAMPs, suggesting that Pompe iPSC-CMs create LAMPs lacking appropriate glycosylation. Isoelectric focusing studies exposed that Light2 offers a more alkaline pI in Pompe compared with control iPSC-CMs due mainly to hyposialylation. MALDI-TOF-MS analysis of = 100 m for and … TABLE 2 iPS cell collection nomenclature, Paeoniflorin supplier GAA genotype, and phenotype Pompe iPS Cells Have Disease-causing Acid -Glucosidase Mutations Ensuing in Undetectable Mature Protein and Enzymatic Activity The mutations in the gene in the unique Pompe fibroblasts were ...

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TY - JOUR. T1 - Effects of the α-glucosidase inhibitor acarbose on postprandial serum glucose and insulin concentrations in healthy dogs. AU - Robertson, Jane. AU - Nelson, Richard W. AU - Kass, Philip H. AU - Neal, Larry. PY - 1999/5. Y1 - 1999/5. N2 - Objective - To determine effects of acarbose on baseline and postprandial serum glucose and insulin concentrations in healthy dogs, if effects of acarbose were dosage related, and if acarbose caused any short- term adverse effects. Animals - 5 healthy dogs fed a high-fiber diet. Procedure - A Latin-square design was used. During each 1-week treatment period, dogs were given a placebo or 25, 50, 100, or 200 mg of acarbose, PO, twice daily immediately prior to feeding. There was a 1-week interval between periods. At the end of each treatment period, serum glucose and insulin concentrations were measured prior to feeding and at 30- to 60-minute intervals for 6 hours after feeding. Results - Baseline serum glucose and insulin concentrations, insulin ...

Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions for effects on splicing and protein function and for cross reactive immunologic material (CRIM) status, minor allele frequencies, and molecular analyses. We analyzed 867 patients and 562 GAA variants. Based on their combination with a GAA null allele (i.e., complete deficiency of GAA enzyme activity), 49% of the 422 disease‐associated variants could be linked to classic infantile, childhood, or adult phenotypes. Predictions and immunoblot analyses identified 131 CRIM negative and 216 CRIM positive variants. While disease‐associated missense variants were found throughout the GAA protein, ...

Pompe disease is seen as a deficiency or absence of activity of the lysosomal enzyme acid alpha-glucosidase. was safely reintroduced during the IMT induction phase and, subsequently, the enzyme dose was increased, all without any complications. Antibodies disappeared, IMT was tapered and discontinued, and cadiomyopathy steadily improved. During 1 year of follow-up, she remained ventilator dependent and no gains in motor skills were noticed; motor features can end up being monitored during suffered ERT. Even though the reversal of medical decline inside our CRIM-positive and antibody-positive baby with Pompe disease cant be solely related to IMT, our encounters with this process may be beneficial to additional doctors encountering comparable therapeutic dilemmas. Intro Pompe disease (OMIM #232300), referred to as glycogen storage space disease type II also, can be a treatable lysosomal storage space disorder due to the current presence of a mutation in the gene encoding acidity alpha-glucosidase ...

TY - JOUR. T1 - Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease. AU - Xu, Sengen. AU - Galperin, Mikhail. AU - Melvin, Gary. AU - Horowits, Robert. AU - Raben, Nina. AU - Plotz, Paul. AU - Yu, Leepo. PY - 2010/5. Y1 - 2010/5. N2 - Pompe disease, a defi-ciency of lysosomal acid α-glucosidase, is a disorder of glycogen, metabolism that can affect infants, children, or adults. In all forms of the disease, there is progressive muscle pathology leading to premature death. The pathology is characterized by accumulation of glycogen in lysosomes, autophagic buildup, and muscle atrophy. The purpose of the present investigation was to determine if myofibrillar dysfunction in Pompe disease contributes to muscle weakness beyond that attributed to atrophy. The study was performed on isolated myofibers dissected from severely affected fast glycolytic muscle in the α-glucosidase knockout mouse model. Psoas muscle fibers were first permeabilized, ...

The research of medical geneticist Silvia Tortorelli, M.D., Ph.D., and her Mayo colleagues is outlined in, Moonlighting Newborn Screening Markers: The Incidental Discovery of a Second-Tier Test for Pompe Disease, which appeared as an advanced publication in Genetics in Medicine on November 2.. Through the teams work, a novel biochemical marker was discovered in dried blood spots that not only allows for a faster turnaround time of results but will be more cost-effective than molecular genetic analysis. The new marker was calculated by dividing the creatine/creatinine ratio by the activity of acid A-glucosidase.. According to Dr. Tortorelli, Consultant in the Biochemical Genetics Laboratory, the team used tools created by the Collaborative Laboratory Integrated Reports (CLIR) software to incorporate the new marker into an interpretation algorithm that achieved almost complete segregation between Pompe disease and false-positive cases.. This new test, once further clinically validated, will ...

1. The Ayurvedic Pharmacopoeia of India, Part-1, Vol-1 & 3.. 2. Yang ZD, Duan DZ, Xue WW, et al. Steroidal alkaloids from Holarrhena antidysenterica as acetylcholinesterase inhibitors and the investigation for structure-activity relationships. Life Sci. 2012 Jun 14;90(23-24):929-33.. 3. Kavitha D, Niranjali S. Inhibition of enteropathogenic Escherichia coli adhesion on host epithelial cells by Holarrhena antidysenterica (L.) WALL. Phytother Res. 2009 Sep;23(9):1229-36.. 4. Kavitha D, Shilpa PN, Devaraj SN. Antibacterial and antidiarrhoeal effects of alkaloids of Holarrhena antidysenterica WALL. Indian J Exp Biol. 2004 Jun;42(6):589-94.. 5. Ali KM, Chatterjee K, De D, et al. Inhibitory effect of hydro-methanolic extract of seed of Holarrhena antidysenterica on alpha-glucosidase activity and postprandial blood glucose level in normoglycemic rat. J Ethnopharmacol. 2011 Apr 26;135(1):194-6.. 6. Khan A, Khan SR, Gilani AH. Studies on the in vitro and in vivo antiurolithic activity of Holarrhena ...

Lumizyme (alglucosidase alfa) is an enzyme replacement treatment for Pompe disease developed by Sanofi Genzyme and approved by the FDA.

Hi everybody! My name is really Arthur, but some people call me Red. Hope you like the case format. These cases are not complete and are not intended to really teach, but are just for fun.....A three month old girl presents with profound muscle weakness, and Floppyness. On exam, hepatomegaly is noted. The chest X-ray is shown. Note Cardiomegaly. There has been no exposure to honey or home canned goods. .....The child has Pompe disease......An autosomal recessively inherited lysosomal storage disease. The deficient enzyme is alpha glucosidase, which is needed for glycogen breakdown.......The disease was first characterized by Johann Pompe in 1932. Pompe was danish, and was executed in 1945 by Nazi Germany for espionage.....The disease is also featured prominantly in the upcoming film Extraordinary Measures, which I believe is a statement against big pharama, and Bristol Myers Squib in particular. ......Besides Botulism (alluded to in the pertinent negatives of the case), a differential would ...

All Pompe disease patients have symptoms that affect their hearts, so its important to maintain healthy habits to ensure good cardiac health.

Evidence-Based Complementary and Alternative Medicine (eCAM) is an international peer-reviewed, Open Access journal that seeks to understand the sources and to encourage rigorous research in this new, yet ancient world of complementary and alternative medicine.

Evidence-Based Complementary and Alternative Medicine (eCAM) is an international peer-reviewed, Open Access journal that seeks to understand the sources and to encourage rigorous research in this new, yet ancient world of complementary and alternative medicine.

This trial is investigating the effects of miglitol [Sanwa Kagaku Kenkyusho] versus acarbose versus sitagliptin versus no treatment on glucose metabolism and

cell periphery, cytoplasm, extracellular region, fungal-type vacuole, mitochondrion, beta-fructofuranosidase activity, inulinase activity, sucrose alpha-glucosidase activity, fructan catabolic process, inulin catabolic process

Pompe disease is inherited in an autosomal recessive manner, meaning that an affected individual must inherit an abnormal allele from both parents. Thus, t

Research Report on Global Pompe Disease Drugs Sales Market Report 2017. The Report includes market price, demand, trends, size, Share, Growth, Forecast, Analysis & Overview.

Complete information for GAA gene (Protein Coding), Glucosidase Alpha, Acid, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium