Gene encodes lysosomal alpha glucosidase. Medical search. Frequent questions

GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe. (wikipedia.org)
Newborn screening for Pompe disease can be performed by determining the total acid alpha-glucosidase in plasma or dried blood spots. (medscape.com)
Lumizyme (alglucosidase alfa) is a lysosomal glycogen-specific enzyme indicated for patients with Pompe disease [acid alpha-glucosidase (GAA) deficiency]. (geisinger.org)
As Postdoc she developed innovative in vivo AAV gene therapy approaches based on liver gene transfer or multi-tissue gene expression to target the multi-organ manifestations of Pompe disease, a LSD that presents with neuromuscular impairment. (stanford.edu)
Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-alpha-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal. (koreamed.org)
GSD type II, also known as alpha glucosidase deficiency (GAA, acid maltase deficiency) or Pompe disease, is a prototypic lysosomal disease. (medscape.com)
Indicated in combination with miglustat (Opfolda) for adults with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) who weigh ≥40 kg and are not improving on their current enzyme replacement therapy (ERT). (medscape.com)
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease. (cdc.gov)
Dr. Puertollano also presented research into Pompe disease, a lysosomal storage disorder caused by defects in the lysosomal enzyme Acid Alpha Glucosidase (GAA). (nih.gov)

the classical form is caused by autosomal recessive mutations of the WFS1 gene, and a smaller portion of patients has mutations in the CIDS2 gene, which are responsible for autosomal recessive Wolfram syndrome 2. (bvsalud.org)
CMS with acetylcholinesterase deficiency, in particular, was determined to be due to biallelic mutations of COLQ gene with early-onset clinical signs. (bvsalud.org)
While most of the CLN genes have been studied, the precise cellular mechanisms impacted by CLN gene mutations remain elusive. (frontiersin.org)
Tetrahydrobiopterin (BH4) deficiency is caused by mutations in genes encoding enzymes involved in the synthesis and regeneration of BH4. (koreamed.org)
Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
For practical purposes, depending on the enzyme activity and the presence of mutations in the G6Pase and T genes, respectively, GSD type I may be subdivided into 2 major forms. (medscape.com)
It is an autosomal recessive disorder in which there is an AGL gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. (medscape.com)
Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. (affbiotech.cn)
Mutations encoding APOA1 are associated with HDL deficiencies and can confer a higher risk of coronary heart disease. (southtees.nhs.uk)

Acid alpha-1,4 glucosidase (acid maltase), like other lysosomal enzymes, is synthesized as a precursor form (molecular weight 105,000) in the endoplasmic reticulum. (medscape.com)
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)
Our data demonstrate expression of replacement enzymes for multiple different proteins, including those deficient in lysosomal storage disorders, which serves to demonstrate the potential of this approach for a broad range of other monogenic diseases. (medicalmvp.com)
Glucosyltransferase and glucosidase are performed by a single enzyme in mammals, yeast, and some bacteria, but by two distinct enzymes in E. coli and other bacteria, complicating nomenclature. (wikidoc.org)
When glucosyltransferase and glucosidase are catalyzed by distinct enzymes, "glycogen debranching enzyme" usually refers to the glucosidase enzyme . (wikidoc.org)
Thus the debranching enzymes, transferase and α-1,6- glucosidase converts the branched glycogen structure into a linear one, paving the way for further cleavage by phosphorylase. (wikidoc.org)
In E. coli and other bacteria, glucosyltransferase and glucosidase functions are performed by two distinct enzymes. (wikidoc.org)

It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. (wikipedia.org)
Measurement of acid alpha-glucosidase enzyme activity in dried blood specimens is an optimal and reliable diagnostic test for acid maltase deficiency. (medscape.com)
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)
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)
Its clinical presentation clearly differs from other forms of GSD, because it is caused by the deficiency of the lysosomal enzyme, alpha-1,4-glucosidase, leading to the pathologic accumulation of normally structured glycogen within the lysosomes of most tissues, differs Three forms of the disease exist: infantile-onset, late-onset juvenile and adult onset. (medscape.com)
Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. (medscape.com)

citation needed] The disease is caused by a mutation in a gene (acid alpha-glucosidase: also known as acid maltase) on long arm of chromosome 17 at 17q25.2-q25.3 (base pair 75,689,876 to 75,708,272). (wikipedia.org)
by cleaving glycogen's 1,4 and 1,6 alpha-glycosidic linkages, the enzyme acid maltase gives rise to free glucose molecules. (medscape.com)
With regard to biopsy, the diagnosis of AMD usually is made based on the absence or reduction in the levels of alpha-acid maltase in muscle tissue or cultured skin fibroblasts. (medscape.com)

Based on Sangamo's zinc finger DNA-binding protein (ZFP) genome-editing technology, the platform enables the permanent production of therapeutic proteins from a specific genomic site in the liver with a single systemic treatment, potentially providing curative treatments for a range of monogenic diseases such as hemophilia and lysosomal storage disorders (LSD) including Gaucher and Fabry disease. (medicalmvp.com)
The mammalian genome comprises nuclear DNA (nDNA) derived from both parents and mitochondrial DNA (mtDNA) that is maternally inherited and encodes essential proteins required for oxidative phosphorylation. (regenerativemedicine.net)

This means the defective gene is located on an autosome, and two faulty copies of the gene-one from each parent-are required to be born with the disorder. (wikipedia.org)
As with all cases of autosomal recessive inheritance, children have a one in four chance of inheriting the disorder when both parents carry the defective gene, and although both parents carry one copy of the defective gene, they are usually not affected by the disorder. (wikipedia.org)
In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
Gene therapy is experimental but in the future may help correct both somatic and neurologic abnormalities in a lysosomal storage disorder. (medscape.com)
For instance, defective lipid trafficking in the lack of NPC1 network marketing leads towards the lysosomal storage space disorder Niemann-Pick disease (Platt et al. (cancercurehere.com)
Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered to be characterized by childhood onset, progressive neurocognitive deterioration with a rapidly or slowly progressing phenotype. (biomedcentral.com)
Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome), an autosomal recessive lysosomal storage disorder which is primarily characterized by progressive neurocognitive deterioration, is nowadays divided in a rapidly progressing and slowly progressing phenotype [ 1 ]. (biomedcentral.com)

Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
Although single gene defects typically result in substrate accumulation, the precise underlying pathophysiologic mechanisms that lead to clinical symptoms are not entirely clear. (medscape.com)

The gene encodes a protein-acid alpha-glucosidase (EC 3.2.1.20)-which is a lysosomal hydrolase. (wikipedia.org)
The protein is an enzyme that normally degrades the alpha -1,4 and alpha -1,6 linkages in glycogen, maltose and isomaltose and is required for the degradation of 1-3% of cellular glycogen. (wikipedia.org)
During growth, genes associated with protein ubiquitination/deubiquitination, cell cycle progression, and proteasomal degradation were affected, while genes linked to protein and carbohydrate catabolism were affected during early development. (frontiersin.org)
Luxturna (voretigene-neparvovec-rzyl) is an adeno-associated virus vector-based gene therapy that delivers a normal copy of the gene encoding human retinal pigment epithelial 65 kDa protein (RPE65) to retinal cells thus augmenting reduced or absent levels of biologically active RPE65. (geisinger.org)
Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses revealed that the candidate reference genes were significantly enriched in cellular metabolic process, protein metabolic process and ribosome in early development and normal adult tissues as well as in cellular localization and endocytosis in the hindgut under sulfide stress. (biomedcentral.com)
RICHMOND, Calif., Dec. 10, 2013 /PRNewswire/ - Sangamo BioSciences, Inc. (Nasdaq: SGMO) announced the presentation of new pre-clinical data demonstrating therapeutic levels of gene modification in non-human primates (NHPs) from its In Vivo Protein Replacement Platform. (medicalmvp.com)
Sangamo's In Vivo Protein Replacement Platform makes use of a highly expressed and liver specific genomic "safe-harbor site" that can be edited with ZFP nucleases (ZFNs) to accept and express any therapeutic gene and thus permanently produce high levels of the missing protein with a single treatment. (medicalmvp.com)
The gene encoding albumin, the most abundant protein in blood serum, was chosen as a safe harbor site because it is active exclusively in the liver. (medicalmvp.com)
Our In Vivo Protein Replacement Platform is a highly leverageable and disruptive application of our ZFN-mediated genome editing technology and can potentially be applied to any disease-relevant gene where enabling the liver to provide a stable source of corrective replacement protein will be therapeutic. (medicalmvp.com)
Stat3-mediated alterations in lysosomal membrane protein composition. (uni-bielefeld.de)
In E. coli , Glucose transfer is performed by 4-alpha-glucanotransferase, a 78.5 kDa protein coded for by the gene malQ. (wikidoc.org)
This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. (affbiotech.cn)
Little is known about the role of the fusion protein encoded by the reciprocal derivative chromosome 9, the ABL/BCR. (bios-mep.info)
Two principal breaks occur in the (breakpoint cluster region) gene locus on chromosome 22: the (major) M-BCR, between exons 12 and 16, and the (minor) m-BCR, in the first intron of and m-BCR to that of p185(Abelson tyrosin protein kinase 1) gene on chromosome 9 falls within the intron between the exons 1 and 2. (bios-mep.info)
HIV-1 Tat can be an essential protein in the computer virus life cycle, which is required for computer virus gene expression and replication. (tech-strategy.org)

The NCLs, commonly referred to as Batten disease, are a family of neurodegenerative lysosomal storage diseases that affect all ages and ethnicities globally. (frontiersin.org)
Dr. Pasqualina Colella is a scientist with extensive expertise in cell therapy and gene therapy approaches for the treatment of inherited diseases. (stanford.edu)
She is currently Research Scientist at Stanford University, where she is developing innovative cell therapy approaches to address neuropathic lysosomal storage diseases (LSDs) using hematopoietic stem cell transplantation (HSCT) and genome editing. (stanford.edu)
Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
More than 50 lysosomal storage diseases have been described, some of which are discussed in this article. (medscape.com)
Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov). (medscape.com)
Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
The availability of both ERT and hematopoietic stem cell transplantation has prompted ongoing consideration of newborn screening efforts to diagnose lysosomal storage diseases. (medscape.com)
Cells of the mononuclear phagocyte system are especially rich in lysosomes and thus are frequently affected by lysosomal storage diseases. (medscape.com)

Previous work in mammalian models reported altered lysosomal enzyme activity due to mutation or loss of CLN5 . (frontiersin.org)

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. (cdc.gov)
In this case series all adult MPS III patients with a mild- or non-neuronopathic phenotype, who attend the outpatient clinic of 3 expert centers for lysosomal storage disorders were included. (biomedcentral.com)
In recent years, clinical and diagnostic studies have demonstrated that the phenotypic spectrum of many rare lysosomal storage disorders is much wider than previously thought. (biomedcentral.com)

Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients. (cdc.gov)

Importance of TFEB acetylation in control of its transcriptional activity and lysosomal function in response to histone deacetylase inhibitors. (uni-bielefeld.de)
For example, nutrient deprivation inhibits the lysosome localized mammalian target of rapamycin complex (mTORC1) and activates the transcription factor TFEB, upregulating multiple lysosomal and autophagy-related genes. (nih.gov)

Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters. (uni-bielefeld.de)

2014. Pneumolysin activates macrophage lysosomal membrane permeabilization and executes apoptosis by distinct mechanisms without membrane pore formation . (hutton.ac.uk)
We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)

Twenty-seven patients were carrying heterozygous pathogenic variants of PTPN11 gene with a similar frequency (41.4%) compared to the literature. (bvsalud.org)

New developments and tests for disease can be followed by reviewing the Lysosomal Storage Disease Network, Online Mendelian Inheritance in Man,[2] and GeneTests[3] Web sites. (medscape.com)
Neurons and glia are commonly affected, likely because of the relative paucity of cell turnover in the central nervous system, yet non-neuronopathic forms of lysosomal storage disease exist. (medscape.com)

The impact of sphingolipids on MDR1 gene expression in cancer appears to reflect the myriad intracellular signaling pathways of ceramide and its metabolites. (sphingolipidclub.com)

We screened for hotspot variants (exons 3, 8, and 13) in PTPN11 gene by Sanger sequencing. (bvsalud.org)
Alternative splicing results in multiple transcript variants encoding different isoforms. (affbiotech.cn)

Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. (affbiotech.cn)

Unesterified or free of charge cholesterol translocates through the lysosomal cholesterol transporter Niemann-Pick C1 (NPC1) to various other cellular sites like the PM as well as the ER. (cancercurehere.com)

Based on our previous experience in Bckdha-/- mice, we designed a transgene carrying the human BCKDHB gene under the control of a ubiquitous EF1α promoter, encapsidated in an AAV8 capsid. (stanford.edu)
In the present study we examined the relationship between ceramide, ceramide metabolites and expression of the MDR1 gene in human breast cancer cell lines. (sphingolipidclub.com)
On this study, cDNA library screening using a pool of cDNA derived from interferon-treated human cells was combined with the MinION sequencer to determine cell genes inhibiting Chikungunya virus (CHIKV) replication. (master-sistemisanitari-medicinenonconvenzionali.org)

Several additional genes associated with a Noonan syndrome-like phenotype have been identified. (bvsalud.org)
rAAV1 vectors have a similar capsid sequence and were successfully applied in systemic gene delivery to vital muscles of DMD and CMD mouse models and efficiently ameliorated the dystrophic phenotype (Qiao et al. (justia.com)

Although the mechanisms of gene activation are still unclear, ceramide's role as a messenger of cytotoxic response to chemotherapy might be linked to the MDR pathway. (sphingolipidclub.com)

Alpha-glucosidase is essential for normal muscle development and function. (medscape.com)

AAV9 vectors also demonstrate efficient tropism to the myocardium and serve as another alternative for systemic gene delivery to heart (Inagaki et al. (justia.com)

Commonly used reference genes are not always stable in various organisms or under different environmental conditions. (biomedcentral.com)
Subsequently, ten genes including five new candidate reference genes and five commonly used reference genes, were validated by RT-qPCR. (biomedcentral.com)
The comprehensive results indicated that the new candidate reference genes were more stable than most commonly used reference genes. (biomedcentral.com)
The commonly used ACTB was the most unstable gene. (biomedcentral.com)

These data further validate the efficacy of gene therapy for MSUD opening perspectives towards clinical translation. (stanford.edu)

Lysosomal enzyme tripeptidyl peptidase 1 destabilizes fibrillar Aβ by multiple endoproteolytic cleavages within the β-sheet domain. (uni-bielefeld.de)

Finally, consistent with the differential expression of genes associated with proteasomal degradation in cln5 - cells, we also observed elevated amounts of a proteasome subunit and reduced proteasome 20S activity during cln5 - growth and starvation. (frontiersin.org)
Real-time quantitative PCR (RT-qPCR) is a crucial and widely used method for gene expression analysis. (biomedcentral.com)
The expression stability of the ten genes was analyzed using four methods (geNorm, NormFinder, BestKeeper, and ∆Ct). (biomedcentral.com)
Our study is the first to select reference genes for RT-qPCR from transcriptome data in Echiura and provides important information for future gene expression studies in U. unicinctus . (biomedcentral.com)
Reference genes are used for the normalization of gene expression because of the stability of expression levels among different tissues, different developmental stages, or under various treatments [ 5 ]. (biomedcentral.com)
Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)

With the increasing application of high-throughput sequencing, RNA-seq has provided a new strategy for identifying new highly stable reference genes from transcriptome data. (biomedcentral.com)

This enzyme has a molecular mass of 73.6 kDa, and is coded for by the gene glgX. (wikidoc.org)
The fusion gene on der9 differs between m-BCR-p185and M-BCR-p210gene encodes a small ABL/BCR with an approximate molecular mass of 40 kDa (p40transcript is detectable in 65% of the CML patients [15] and the p96transcript is present in 100% of examined patients with m-BCR Ph+ ALL [16]. (bios-mep.info)

Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy. (stanford.edu)

citation needed] The gene spans approximately 20 kb and contains 20 exons with the first exon being noncoding. (wikipedia.org)

Lin CY, Hwang B, Hsiao KJ, Jin YR. Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity. (medscape.com)
A debranching enzyme is a molecule that helps facilitate the breakdown of glycogen , which serves as a store of glucose in the body, through glucosyltransferase and glucosidase activity. (wikidoc.org)
Transworld Research Network 37/661 (2), Fort P.O. Plants in Traditional and Modern Medicine: Chemistry and Activity, 2010: 69-175 ISBN: 978-81-7895-432-5 Editor: Eugene Kokkalou 2. (gotomydoctor.com)

We and others have tested AAV gene therapy in mice for two of the three genes involved in MSUD, BCKDHA and DBT. (stanford.edu)

Since its introduction, MLPA has been used to test a large number of genes for major. (koreamed.org)

5 kb) genes in the retina for treating Stargardt disease and Usher Syndrome type I B, both of which cause untreatable forms of blindness. (stanford.edu)
Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease. (cdc.gov)

Lysosomal Machinery Drives Extracellular Acidification to Direct Non-apoptotic Cell Death. (uni-bielefeld.de)
This lysosomal disfunction ultimately leads to a buildup of aberrant mitochondria and autophagic vesicles, thereby starting a signaling cascade of cell death. (nih.gov)

The promoter has features characteristic of a housekeeping gene. (wikipedia.org)

Diseases5

Chemicals and Drugs7

Pompe9

Mutations9

Enzymes7

Deficiency6

Acid maltase3

Proteins2

Disorder7

Accumulation2

Protein15

Diseases11

Enzyme activity1

Disorders3

Phenotypic1

TFEB2

Lipoprotein1

Activates2

Pathogenic variants1

Storage disease2

Intracellular1

Variants2

Primarily1

Cellular1

Human3

Phenotype2

Mechanisms1

Function1

Systemic1

Commonly4

Efficacy1

Multiple1

Expression6

Stable1

Molecular2

Severe1

Exons1

Activity3

Therapy1

Large1

Disease2

Cell2

Promoter1