PubMed Journals Articles About "Recombinant Virus Vectors Treatment Glycogen Storage Disease Type" RSS

18:44 EDT 25th June 2019 | BioPortfolio

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Showing "Recombinant Virus Vectors Treatment Glycogen Storage Disease type" PubMed Articles 1–25 of 59,000+

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Glycogen storage disease type III (GSDIII) is caused by mutations of AGL gene with debranching enzyme deficiency. Patients with GSDIII manifest fasting hypoglycemia, hepatomegaly, hepatopathy, myopathy, and cardiomyopathy. We report on an 18-year-old boy with a profound growth retardation (

Hepatic glycogen storage diseases are associated to microbial dysbiosis.

The gut microbiome has been related to several features present in Glycogen Storage Diseases (GSD) patients including obesity, inflammatory bowel disease (IBD) and liver disease.

Spondyloarthropathy associated with glycogen storage disease type V mimicking polymyositis.

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), β (PHKB), ɣ (PHKG1, PHKG2), and δ (CALM1, CALM2, CALM3). Glycogen storage disease types VI and IX have a wide spectrum of cli...

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.

Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations within the AGL gene have been found to be heterogeneous, with some common mutations being reported in certain populations. The mutation spectrum of AGL gene in the multi-ethnic Malaysian population is still unknown.

Glycogen structure in type 1 diabetic mice: Towards understanding the origin of diabetic glycogen molecular fragility.

Glycogen is a complex branched glucose polymer. Liver glycogen in db/db mouse, a type-2 diabetic mouse model, has been found to be more molecularly fragile than in healthy mice. Size-exclusion chromatography was employed in this study to investigate the molecular structure of liver glycogen in two types of type 1 diabetic mouse models (NOD and C57BL/6J mice), sacrificed at various times throughout the diurnal cycle, and the fragility of liver glycogen after exposure to a hydrogen-bond disruptor were tested....

Next-generation glycogen storage diseases.

Lysosomal storage disorders affecting the heart: a review.

Lysosomal storage disorders (LSD) comprise a group of diseases caused by a deficiency of lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. Lysosomal storage disorders result from an accumulation of specific substrates, due to the inability to break them down. The diseases are classified according to the type of material that is accumulated; for example, lipid storage disorders, mucopolysaccharidoses and glycoproteinoses. Cardiac disease is particularly important in ly...

Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143.

Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. This new iPSC line will allow a better understanding of the Ocular Albinism type 1 disease and to screen for potential therapeutic candidates.

Method for Labeling and Reconstruction of Single Neurons Using Sindbis Virus Vectors.

Neuronal dendrites and axons are key substrates for the input and output of information, respectively, so establishing the precise and complete morphological description of dendritic and axonal processes of a single neuron is essential for understanding the neuron's functional role in the neuronal circuits. The whole structure of single neurons was originally revealed using Golgi staining, and later the intracellular labeling method was developed, although this is technically too difficult to stain entire n...

A Potential Role for α-Amylase in Amyloid-β-Induced Astrocytic Glycogenolysis and Activation.

Astrocytes produce and store the energy reserve glycogen. However, abnormal large glycogen units accumulate if the production or degradation of glycogen is disturbed, a finding often seen in patients with Alzheimer's disease (AD). We have shown increased activity of glycogen degrading α-amylase in AD patients and α-amylase positive glial cells adjacent to AD characteristic amyloid-β (Aβ) plaques.

Excipient Selection for Thermally Stable Enveloped and Non-Enveloped Viral Vaccine Platforms in Dry Powders.

Two enveloped viral vectors, vesicular stomatitis virus and influenza virus, and a non-enveloped viral vector, human adenovirus type 5, were encapsulated by spray drying to enhance thermal stability.Results with these candidates led to the hypothesis that stability performance of chosen excipients may be less virus-specific, as previously postulated in the literature, and more differentiated based on whether the virus has a lipid envelope. Spray dried samples were characterized for their thermal properties,...

Plant Virus Vectors 3.0: Transitioning into Synthetic Genomics.

Plant viruses were first implemented as heterologous gene expression vectors more than three decades ago. Since then, the methodology for their use has varied, but we propose it was the merging of technologies with virology tools, which occurred in three defined steps discussed here, that has driven viral vector applications to date. The first being the advent of molecular biology and reverse genetics, which enabled the cloning and manipulation of viral genomes to express genes of interest (vectors 1.0). Th...

CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.

Glycogen storage disease type Ib (GSD Ib) is an autosomal recessive disorder, caused by a deficiency of ubiquitously expressed SLC37A4 protein. Deficiency of SLC37A4 leads to abnormal storage of glycogen in the liver and kidneys, resulting in long-term complications of renal disease and hepatocellular adenomas, whose mechanisms are poorly understood. Molecular markers of the adaptive responses to the metabolic stress caused by a deficiency of SLC37A4, such as markers related to the endoplasmic reticulum (ER...

Methodological considerations for studies of brain glycogen.

Glycogen stores in the brain have been recognized for decades, but the underlying physiological function of this energy reserve remains elusive. This uncertainty stems in part from several technical challenges inherent in the study of brain glycogen metabolism. These include low glycogen content in the brain, non-homogeneous labeling of glycogen by radiotracers, rapid glycogenolysis during postmortem tissue handling, and effects of the stress response on brain glycogen turnover. Here we briefly review the a...

Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene.

Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that has a heterozygous mutation of a p.L43_A44delLA of SMPD1 using non-integrating Sendai virus technique. This iPSC line offers a useful resource to study the disease pathophysiology and as a cell-based model for d...

Oncolytic virus therapy in Japan: progress in clinical trials and future perspectives.

Oncolytic virus therapy is a promising new option for cancer. It utilizes genetically engineered or naturally occurring viruses that selectively replicate in and kill cancer cells without harming normal cells. T-VEC (talimogene laherparepvec), a second-generation oncolytic herpes simplex virus type 1, was approved by the US Food and Drug Administration for the treatment of inoperable melanoma in 2015 and subsequently approved in Europe in 2016. Other oncolytic viruses using different parental viruses have a...

Indication for treatment and severity of disease in treatment-naive patients with chronic hepatitis B virus infection.

The prevalence of chronic hepatitis B virus (HBV) infection in Europe is poorly defined. Data on the proportion of patients eligible for therapy are lacking but are crucial to meet WHO elimination goals. The aims of our study were to provide an estimate of the need for antiviral treatment and to assess the prevalence of advanced liver disease in treatment-naive, chronic HBV-infected patients.

Targeted Gene Delivery into the Mammalian Inner Ear Using Synthetic Serotypes of Adeno-Associated Virus Vectors.

Targeting specific cell types in the mammalian inner ear is important for treating genetic hearing loss due to the different cell type-specific functions. Adeno-associated virus (AAV) is an efficient gene transfer vector, and it has demonstrated promise for treating genetic hearing loss. Although more than 100 AAV serotypes have been identified, few studies have investigated whether AAV can be distributed to specific inner ear cell types. Here we screened three EGFP-AAV reporter constructs (serotypes DJ, D...

Challenges of Gene Delivery to the Central Nervous System and the Growing use of Biomaterial Vectors.

Gene therapy is a promising form of treatment for those suffering from neurological disorders or central nervous system (CNS) injury, however, obstacles remain that limit its translational potential. The CNS is protected by the blood brain barrier, and this barrier blocks genes from traversing into the CNS if administered outside of the CNS. Viral and non-viral gene delivery vehicles, commonly referred to as vectors, are modified to enhance delivery efficiency to target locations in the CNS. Still, there ar...

Type I Interferons: Distinct Biological Activities and Current Applications for Viral Infection.

The interferons (IFNs) are a primary defense against pathogens because of the strong antiviral activities they induce. IFNs can be classified into three groups: type I, type II and type III, according to their genetic, structural, and functional characteristics and their receptors on the cell surface. The type I IFNs are the largest group and include IFN-α, IFN-β, IFN-ε, IFN-ω, IFN-κ, IFN-δ, IFN-τ and IFN-ζ. The use of IFNs for the treatment of viral infectious diseases on their antiviral activity m...

Variation in Glycogen Distribution among Freshwater Bivalve Tissues: Simplified Protocol and Implications.

Glycogen is a primary metabolic reserve in bivalves and can be suitable for the evaluation of bivalve condition and health status, but the use of glycogen as a diagnostic tool in aquaculture and biomonitoring is still relatively rare. A tissue biopsy combined with a simplified phenol-sulfuric acid method was used in this study to evaluate the inter- and intraindividual variation in the glycogen concentrations among several tissues (foot, mantle, gills, adductor muscle) of the unionid bivalve, the duck musse...

Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.

Gaucher disease (GD) is a rare inherited metabolic disorder and the most common lysosomal storage disorder, caused by a deficiency in glucocerebrosidase enzyme activity. It has been classified according to the neurological manifestations into three types: type 1, without neuropathic findings, type 2 with acute infantile neuropathic signs and type 3 or chronic neuropathic form. However, report of new variants has led to the expansion of phenotype as a clinical phenotype of GD considered as a continuum of phe...

Culicoides species as potential vectors of African horse sickness virus in the southern regions of South Africa.

African horse sickness (AHS), a disease of equids caused by the AHS virus, is of major concern in South Africa. With mortality reaching up to 95% in susceptible horses and the apparent reoccurrence of cases in regions deemed non-endemic, most particularly the Eastern Cape, epidemiological research into factors contributing to the increase in the range of this economically important virus became imperative. The vectors, Culicoides (Diptera: Ceratopogonidae), are considered unable to proliferate during the un...

Decreased Glycogenolysis by Promotes Regional Glycogen Accumulation Within the Spinal Cord of Amyotrophic Lateral Sclerosis Mice.

Metabolic dysfunction is a hallmark of age-related neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). But the crosstalk between metabolic alteration and disease progression in ALS is still largely unknown. Glycogen, a branched polymer of glucose residues, is universally recognized as the energy reserve of the central nervous system (CNS), where its aberrant accumulation instigates neurodegeneration. Glycogen was reported to be accumulated in both CNS and visceral organs of SOD1 mice,...

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