38 results about "Glycogen storage disease" patented technology

The present invention relates to a bioactive agent capable of increasing the intracellular concentration and/or activity of Hsp70 for use in the treatment of a lysosomal storage disease which arise from a defect in an enzyme whose activity is not directly associated with the presence of lysosomal BMP as a co-factor; such as glycogen storage diseases, gangliosidoses, neuronal ceroid lipofuscinoses, cerebrotendinous cholesterosis, Wolman's disease, cholesteryl ester storage disease, disorders of glycosaminoglycan metabolism, mucopolysaccharidoses, disorders of glycoprotein metabolism, mucolipidoses, aspartylglucosaminuria, fucosidosis, mannosidoses, and sialidosis type II.

The invention discloses a primer combination, method and kit for constructing a targeted library of multiple inherited metabolic liver diseases based on high-throughput sequencing. The base sequence of the primer combination is shown as SEQ ID No. 1 to SEQ ID No. 2245, and the primer combination covers total 703 exons and cutting regions of 43 genes such as SERPINA1, G6PC, SLC37A4, AGL and the like, and is capable of detecting 41 sub-type gene variation loci of totally 20 inherited metabolic liver diseases comprising alpha-1-antitrypsin deficiency, glycogen storage disease, citrullinemia, aminosuccinuria, hemochromatosis, porphyrinopathy, cystic fibrosis, bile acid synthesis defect, Gaucher disease, hereditary fructose intolerance, cholesterol ester storage disease, Gilbert syndrome, Dubinsyndrome, Rotor syndrome, progressive familial intrahepatic choleatasia and the like. The primer combination disclosed by the invention is simple in operation, high in accuracy and low in time consumption, and the time cost and manual cost used for detecting genes and fragments one by one during Sanger sequencing can be greatly saved.

The new piperazine derivatives are modulators of TRPML and are useful in treating disorders related to TRPML activities such as lysosome storage diseases, muscular dystrophy, age-related common neurodegenerative diseases, oxidative stress or reactive oxygen species (ROS) related diseases, and ageing.

The invention discloses a new application of recombinant human thymosin alpha collagens, which relates to a recombinant human thymosin alpha collagen. The invention also provides the application of the recombinant human thymosin alpha collagen in preparing anti-fatigue drugs. The recombinant human thymosin alpha collagen (referred to as thymosin alpha collagen) refers to a recombinant human thymosin alpha collagen and a tissue separated and purified thymosin alpha collagen. The effect of the thymosin alpha collagen in various anti-fatigues is implemented through increasing the glycogen storage of the liver and muscles and reducing the level of serum urea nitrogen so as to improve the fatigue resistance.

The invention discloses a kit used for screening genetic liver diseases. The kit is high in detection flux, sensitivity, and specificity. The genetic liver diseases comprise progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, congenital bile acid synthesis defect, idiopathic bile acid malabsorption, Dubin-Johnson syndrome, hereditary hemochromatosis, alpha1 antitrypsin deficiency, glycogen storage disease, autosomal recessive polycystic kidney disease, Budd-Chiari syndrome, and the like. 39 genes, including ATP8B1, ABCB11, ABCB4, TJP2, NR1H4, HSD3B7, AKR1D1, CYP7B1, AMACR, ABCD3, SLC10A2, ABCC2, HFE, TFR2, SERPINA1, G6PC, SLC37A4, AGL, PYGL, SLC40A1, PKHD1, F5, GYS2, VIPAS39, SLC25A13, JAG1, NOTCH2, PHKA2, PHKB, PHKG2, PHKA1, ALAD, HAMP, HFE2, SMPD1, ATP7B, ABCA1, NPC2, and NPC1, are detected in screening of genetic liver diseases. The kit comprises targeting capture probes SEQ NO:1-SEQ NO:722 targeting at all the exons of the 39 genes, and the kitis used for gene detection.

Modified G6PC (glucose-6-phosphatase, catalytic subunit) nucleic acids and glucose-6-phosphatase-alpha (G6Pase-alpha) enzymes with increased phosphohydrolase activity are described. Also described arevectors, such as adeno-associated virus (AAV) vectors, and recombinant AAV expressing modified G6Pase-alpha. The disclosed AAV vectors and rAAV can be used for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type la (GSD-Ia), and complications thereof.

The present invention relates to a mini-GDE for the treatment of glycogen storage disease III.

This disclosure provides isolated nucleic acid molecules comprising nucleic acid sequences encoding microbial polypeptides that are codon optimized for expression in mammalian cells, vectors comprising an immunotolerant dual promoter system, and methods using these polynucleotides and polypeptides to treat glycogen storage diseases and other inherited diseases.

The present invention relates to vectors and compositions for the treatment of glycogen storage disease III.

Vectors including viral vectors comprising a genome comprising a heterologous nucleic acid encoding a lysosomal targeting sequence, fused to a lysosomal storage enzyme, enabling the lysosomal enzyme to be targeted to the lysosomes. Particular embodiments relate to a recombinant viral vector, e.g., rAAV vector encoding a lysosomal enzyme, having a lysosomal targeting IGF2(V43) sequence that binds human cation-independent mannose-6-phosphate receptor (CI-MPR) or to the IGF2 receptor, permitting proper subcellular localization of the lysosomal enzyme polypeptide to lysosomes. Also encompassed are therapeutic fusion proteins encoded by the viral vector, non-viral vectors, cells, and methods to treat a glycogen storage disease, e.g., those listed in Table 4A or Table 5A with the viral vector. t,?