12 results about "GLYCOCERAMIDES" patented technology

Provided herein are compounds that inhibit glucosylceramide synthase (GCS). Also provided are pharmaceutical compositions comprising the compounds, and methods of treating diseases and disorders associated with GCS activity, such as lysosomal storage disorders.

The present invention relates to Compounds of Formula I: and pharmaceutically acceptable salts or prodrug thereof. The present invention also relates to compositions comprising at least one compound of Formula I, and methods of using the compounds of Formula I for treatment or prophylaxis of lysosomal storage diseases, neurodegenerative disease, cystic disease, cancer, or a diseases or disorders associated with elevated levels of glucosylceramide (GlcCer), glucosylsphingosine (GlcSph) and / or other glucosylceramide-based glycosphingolipids (GSLs).

The present invention relates to Compounds of Formula I: and pharmaceutically acceptable salts or prodrug thereof. The present invention also relates to compositions comprising at least one compound of Formula I, and methods of using the compounds of Formula I for treatment or prophylaxis of lysosomal storage diseases, neurodegenerative disease, cystic disease, cancer, or a diseases or disorders associated with elevated levels of glucosylceramide (GlcCer), glucosylsphingosine (GlcSph) and / or other glucosylceramide-based glycosphingolipids (GSLs).

Provided are a compound having a 2,3-dihydro-1H-indene or 2,3-dihydrobenzofuran moiety or pharmaceutically acceptable salt thereof, a process for the preparation thereof, a pharmaceutical composition comprising the same and a use thereof, where the. The compound having a 2,3-dihydro-1H-indene or 2,3-dihydrobenzofuran moiety or pharmaceutically acceptable salt thereof has an inhibitory activity against glucosylceramide synthase (GCS), and therefore can be usefully applied for preventing or treating various diseases associated with GCS, such as Gaucher disease, Fabry disease, Tay-Sachs disease, Parkinson's disease, etc.

The invention relates to the technical field of biological medicine, in particular to application of glucosylceramide level as a diagnosis and treatment target of heart failure. According to the invention, key pathological cascade reactions such as lysosomal membrane permeabilization, cathepsin leakage, mitochondrial dysfunction and the like in the occurrence and development process of heart failure are blocked from the source by reducing the level of glucosylceramide in myocardial tissues. By inhibiting synthesis of glucosylceramide or enhancing degradation in lysosome of glucosylceramide, glucosylceramide abnormally accumulated in myocardial cells is removed, organelle structures and energy metabolism states are remarkably improved, and then myocardial contraction and relaxation functions are improved. In an animal model, the strategy can reverse ventricular remodeling, improve ejection fraction and relieve cardiac hypertrophy and fibrosis. In addition, the glucosylceramide detection method provided by the invention can be used for assisting in evaluating metabolic abnormalities related to heart failure, so that disease judgment is more accurate.

A genetically modified human beta-glucocerebrosidase (GCase) is disclosed. The genetically modified GCase comprising an amino acid sequence at least 85 % identical to SEQ ID NO: 2; and comprising mutations at coordinates L34P, K224N / G, T369E and N370D, where the coordinates correspond to said SEQ ID NO: 2; and capable of catalyzing hydrolysis of a glycolipid glucosylceramide (GlcCer). Pharmaceutical compositions comprising the genetically modified GCase and therapeutic methods of using same are also disclosed.

The present disclosure relates to crystalline forms of (E)-N-((1R,2R)-1-(3-chloro-4-cyclopropoxyphenyl)-1-hydroxy-3-(pyrrolidin-1-yl)propan-2-yl)-2-(6-chloronaphthalen-2-yl)-2-(hydroxyimino)acetamide, the method of preparing the forms, pharmaceutical compositions comprising the forms, and uses thereof.

This invention discloses a vacuum-extracted strawberry cell sap skincare agent, its preparation method, and its application in skin moisturizing and repair, belonging to the field of skin care technology. The vacuum-extracted strawberry cell sap skincare agent comprises the following components in parts by weight: 70-85 parts strawberry cell sap, 0.1-0.5 parts sodium polyglutamate, 0.1-1 parts trehalose, 0.05-0.3 parts ceramide, 0.1-0.3 parts propylene glycol, 2-10 parts glycerin, 0.1-0.5 parts sodium hyaluronate, 0.2-0.8 parts hydroxyethyl cellulose, and 0.1-0.5 parts xanthan gum. This invention is the first to use strawberry cell sap as the core active ingredient in a skincare product, breaking through the limitations of traditional strawberry extract applications and fully exploring the skincare potential of natural molecules, water-soluble antioxidants, and fruit acids in the cell sap. Through the scientific formulation of sodium polyglutamate, trehalose, ceramide, and other ingredients, the moisturizing, repairing, and barrier-strengthening functions of the cell sap are significantly enhanced.

The disclosure relates to compositions and methods for, inter alia, altering, e.g., enhancing, the level of GBA1 protein via delivery using an adeno-associated viral (AAV) capsid variant. The compositions and methods of the present disclosure are useful, inter alia, in the treatment of subjects who have, have been diagnosed with, or are at risk of having a GBA1-related disorder, e.g., Parkinson's Disease (PD), Gaucher Disease (GD), Parkinson's Disease Dementia (PDD), Dementia with Lewy Bodies (DLB), or Lewy Body Dementia (LBD).

The present invention provides a compound having a glucosylceramide synthase inhibitory action, which is expected to be useful as an agent for the prophylaxis or treatment of lysosomal storage diseases (e.g., Gaucher's disease, Fabry's disease, GM1-gangliosidosis, GM2 activator deficiency, Tay-Sachs disease, Sandhoffs disease), neurodegenerative diseases (e.g., Parkinson's disease, Lewy body dementia, multiple-system atrophy) and the like.The present invention relates to a compound represented by the formula (I):wherein each symbol is as described in the description, or a salt thereof.

This disclosure relates to a method of treating a ciliopathy in a subject, the method comprising administering to the subject an effective amount of a quinuclidine compound. Also disclosed is a pharmaceutical composition comprising a quinuclidine compound for use in said method.