MX2021013511A - Tratamiento y deteccion de neuropatias heredadas y trastornos asociados. - Google Patents
Tratamiento y deteccion de neuropatias heredadas y trastornos asociados.Info
- Publication number
- MX2021013511A MX2021013511A MX2021013511A MX2021013511A MX2021013511A MX 2021013511 A MX2021013511 A MX 2021013511A MX 2021013511 A MX2021013511 A MX 2021013511A MX 2021013511 A MX2021013511 A MX 2021013511A MX 2021013511 A MX2021013511 A MX 2021013511A
- Authority
- MX
- Mexico
- Prior art keywords
- detection
- treatment
- associated disorders
- sord
- mutation
- Prior art date
Links
- 206010022031 Inherited neuropathies Diseases 0.000 title abstract 2
- 238000001514 detection method Methods 0.000 title 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 title 1
- 108010009384 L-Iditol 2-Dehydrogenase Proteins 0.000 abstract 3
- 102100026974 Sorbitol dehydrogenase Human genes 0.000 abstract 3
- 230000035772 mutation Effects 0.000 abstract 2
- 230000001717 pathogenic effect Effects 0.000 abstract 2
- 108090000623 proteins and genes Proteins 0.000 abstract 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
- C12N9/0004—Oxidoreductases (1.)
- C12N9/0006—Oxidoreductases (1.) acting on CH-OH groups as donors (1.1)
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/185—Acids; Anhydrides, halides or salts thereof, e.g. sulfur acids, imidic, hydrazonic or hydroximic acids
- A61K31/19—Carboxylic acids, e.g. valproic acid
- A61K31/195—Carboxylic acids, e.g. valproic acid having an amino group
- A61K31/197—Carboxylic acids, e.g. valproic acid having an amino group the amino and the carboxyl groups being attached to the same acyclic carbon chain, e.g. gamma-aminobutyric acid [GABA], beta-alanine, epsilon-aminocaproic acid or pantothenic acid
- A61K31/198—Alpha-amino acids, e.g. alanine or edetic acid [EDTA]
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/335—Heterocyclic compounds having oxygen as the only ring hetero atom, e.g. fungichromin
- A61K31/35—Heterocyclic compounds having oxygen as the only ring hetero atom, e.g. fungichromin having six-membered rings with one oxygen as the only ring hetero atom
- A61K31/352—Heterocyclic compounds having oxygen as the only ring hetero atom, e.g. fungichromin having six-membered rings with one oxygen as the only ring hetero atom condensed with carbocyclic rings, e.g. methantheline
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
- A61K31/4164—1,3-Diazoles
- A61K31/4184—1,3-Diazoles condensed with carbocyclic rings, e.g. benzimidazoles
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
- A61K31/4164—1,3-Diazoles
- A61K31/4188—1,3-Diazoles condensed with other heterocyclic ring systems, e.g. biotin, sorbinil
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
- A61K31/425—Thiazoles
- A61K31/426—1,3-Thiazoles
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
- A61K31/425—Thiazoles
- A61K31/428—Thiazoles condensed with carbocyclic rings
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/435—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom
- A61K31/47—Quinolines; Isoquinolines
- A61K31/473—Quinolines; Isoquinolines ortho- or peri-condensed with carbocyclic ring systems, e.g. acridines, phenanthridines
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
- A61K31/499—Spiro-condensed pyrazines or piperazines
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
- A61K31/50—Pyridazines; Hydrogenated pyridazines
- A61K31/502—Pyridazines; Hydrogenated pyridazines ortho- or peri-condensed with carbocyclic ring systems, e.g. cinnoline, phthalazine
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
- A61K31/505—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim
- A61K31/517—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim ortho- or peri-condensed with carbocyclic ring systems, e.g. quinazoline, perimidine
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/70—Carbohydrates; Sugars; Derivatives thereof
- A61K31/7088—Compounds having three or more nucleosides or nucleotides
- A61K31/7105—Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
- A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- A61K38/43—Enzymes; Proenzymes; Derivatives thereof
- A61K38/44—Oxidoreductases (1)
- A61K38/443—Oxidoreductases (1) acting on CH-OH groups as donors, e.g. glucose oxidase, lactate dehydrogenase (1.1)
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
- A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- A61K38/43—Enzymes; Proenzymes; Derivatives thereof
- A61K38/46—Hydrolases (3)
- A61K38/465—Hydrolases (3) acting on ester bonds (3.1), e.g. lipases, ribonucleases
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
- A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
- C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
- C12N15/1137—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing against enzymes
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
- C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
- C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
- C12N15/86—Viral vectors
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/26—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving oxidoreductase
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Y—ENZYMES
- C12Y101/00—Oxidoreductases acting on the CH-OH group of donors (1.1)
- C12Y101/01—Oxidoreductases acting on the CH-OH group of donors (1.1) with NAD+ or NADP+ as acceptor (1.1.1)
- C12Y101/01014—L-Iditol 2-dehydrogenase (1.1.1.14), i.e. sorbitol-dehydrogenase
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/66—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving blood sugars, e.g. galactose
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N2310/00—Structure or type of the nucleic acid
- C12N2310/10—Type of nucleic acid
- C12N2310/11—Antisense
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N2310/00—Structure or type of the nucleic acid
- C12N2310/10—Type of nucleic acid
- C12N2310/14—Type of nucleic acid interfering N.A.
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
- C12N2750/00011—Details
- C12N2750/14011—Parvoviridae
- C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
- C12N2750/14141—Use of virus, viral particle or viral elements as a vector
- C12N2750/14143—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
- G01N2333/90—Enzymes; Proenzymes
- G01N2333/902—Oxidoreductases (1.)
- G01N2333/904—Oxidoreductases (1.) acting on CHOH groups as donors, e.g. glucose oxidase, lactate dehydrogenase (1.1)
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N2800/00—Detection or diagnosis of diseases
- G01N2800/28—Neurological disorders
- G01N2800/285—Demyelinating diseases; Multipel sclerosis
Landscapes
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- General Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Medicinal Chemistry (AREA)
- Organic Chemistry (AREA)
- Veterinary Medicine (AREA)
- Public Health (AREA)
- Animal Behavior & Ethology (AREA)
- Pharmacology & Pharmacy (AREA)
- Genetics & Genomics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Epidemiology (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Biomedical Technology (AREA)
- Molecular Biology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- General Engineering & Computer Science (AREA)
- Biotechnology (AREA)
- Biochemistry (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Physics & Mathematics (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Neurology (AREA)
- Neurosurgery (AREA)
- Pathology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- General Chemical & Material Sciences (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Virology (AREA)
- Plant Pathology (AREA)
- Gastroenterology & Hepatology (AREA)
- Hematology (AREA)
- Urology & Nephrology (AREA)
- Hospice & Palliative Care (AREA)
- Psychiatry (AREA)
Abstract
La presente exposición se refiere a métodos para detectar y tratar la neuropatía hereditaria.
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201962844370P | 2019-05-07 | 2019-05-07 | |
US202062987151P | 2020-03-09 | 2020-03-09 | |
PCT/US2020/031708 WO2020227430A1 (en) | 2019-05-07 | 2020-05-06 | Treatment and detection of inherited neuropathies and associated disorders |
Publications (1)
Publication Number | Publication Date |
---|---|
MX2021013511A true MX2021013511A (es) | 2022-02-23 |
Family
ID=73050908
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2021013511A MX2021013511A (es) | 2019-05-07 | 2020-05-06 | Tratamiento y deteccion de neuropatias heredadas y trastornos asociados. |
Country Status (12)
Country | Link |
---|---|
US (3) | US20220125890A1 (es) |
EP (1) | EP3966320A4 (es) |
JP (1) | JP2022531466A (es) |
KR (1) | KR20220025713A (es) |
CN (1) | CN113966396A (es) |
AU (1) | AU2020268368A1 (es) |
BR (1) | BR112021021939A2 (es) |
CA (1) | CA3136100A1 (es) |
IL (1) | IL287748A (es) |
MX (1) | MX2021013511A (es) |
SG (1) | SG11202111822QA (es) |
WO (1) | WO2020227430A1 (es) |
Families Citing this family (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2019023648A1 (en) | 2017-07-28 | 2019-01-31 | Applied Therapeutics Inc. | COMPOSITIONS AND METHODS FOR TREATING GALACTOSEMIA |
MX2021013511A (es) | 2019-05-07 | 2022-02-23 | Univ Miami | Tratamiento y deteccion de neuropatias heredadas y trastornos asociados. |
JP2025502269A (ja) * | 2022-01-13 | 2025-01-24 | ツールゲン インコーポレイテッド | シュワン細胞特異的プロモーター |
Family Cites Families (68)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
EP0189272A3 (en) | 1985-01-17 | 1987-08-19 | Fujisawa Pharmaceutical Co., Ltd. | New furanone derivatives, processes for preparation thereof and use thereof |
EP0222576B1 (en) | 1985-11-07 | 1992-03-18 | Pfizer Inc. | Heterocyclic oxophthalazinyl acetic acids |
US4939140A (en) | 1985-11-07 | 1990-07-03 | Pfizer Inc. | Heterocyclic oxophthalazinyl acetic acids |
CA1299178C (en) | 1985-11-07 | 1992-04-21 | Banavara Lakshmana Mylari | Heterocyclic oxophtalazinyl acetic acids |
AU7386887A (en) | 1986-06-12 | 1987-12-17 | American Home Products Corporation | Method of stimulating the immune system with tolrestat;(n-((5 -(trifluoromethyl)-6-methoxy-1-naphthenyl)thioxomethyl)-n-me hylglycine) |
US4868301A (en) | 1987-06-09 | 1989-09-19 | Pfizer Inc. | Processes and intermediates for the preparation of oxophthalazinyl acetic acids having benzothiazole or other heterocyclic side chains |
CA1307537C (en) | 1987-12-23 | 1992-09-15 | Jay E. Wrobel | N-naphthoylglycines as aldose reductase inhibitors |
WO1989006651A1 (en) | 1988-01-19 | 1989-07-27 | Pfizer Inc. | 1h-indazole-3-acetic acids as aldose reductase inhibitors |
US4954629A (en) | 1989-05-11 | 1990-09-04 | Pfizer Inc. | Process and intermediates for the preparation of oxophthalazinyl acetic acids and analogs thereof |
US4996204A (en) | 1989-05-11 | 1991-02-26 | Pfizer Inc. | Pyrido[2,3-d]pyridazinones as aldose reductase inhibitors |
FR2647676A1 (fr) | 1989-06-05 | 1990-12-07 | Union Pharma Scient Appl | Nouveaux derives de pyridazinone, leurs procedes de preparation, medicaments les contenant, utiles notamment comme inhibiteurs de l'aldose reductase |
WO1991009019A1 (en) | 1989-12-15 | 1991-06-27 | Pfizer Inc. | Substituted oxophthalazinyl acetic acids and analogs thereof |
JPH0495025A (ja) | 1990-08-08 | 1992-03-27 | Asahi Chem Ind Co Ltd | アルドースリダクターゼ阻害剤 |
CA2145640C (en) | 1992-09-28 | 2001-01-30 | Banavara L. Mylari | Substituted pyrimidines for control of diabetic complications |
IL113112A (en) | 1994-03-28 | 2000-06-01 | Nissan Chemical Ind Ltd | Pyridine substituted thiazolidinediones and pharmaceutical compositions comprising them |
AU701068B2 (en) | 1995-08-28 | 1999-01-21 | American Home Products Corporation | Phenoxy acetic acids as aldose reductase inhibitors and antihyperglycemic agents |
US6696407B1 (en) * | 1997-03-21 | 2004-02-24 | The Regents Of The University Of California | Huntington's disease treatment comprising administering aldose reductase inhibitors to increase striatal CNTF |
AU6473898A (en) | 1997-03-21 | 1998-10-20 | Regents Of The University Of California, The | Methods for modulating neurotrophic factor-associated activity using aldose reductase inhibitors |
AU9253798A (en) | 1997-09-23 | 1999-04-12 | Novo Nordisk A/S | Modules of protein tyrosine phosphatases (ptpases) |
JP3494990B2 (ja) | 1998-03-31 | 2004-02-09 | ザ インスティテューツ フォア ファーマスーティカル ディスカヴァリー エルエルシー | 置換されたインドールアルカノール酸 |
EP0982306A3 (en) | 1998-08-21 | 2000-07-05 | Pfizer Products Inc. | Polymorph of zopolrestat monohydrate |
TR200102810T2 (tr) * | 1999-04-01 | 2002-01-21 | Pfizer Products Inc. | Sorbitol dehidrojenaz inhibitörleri olarak aminopirimidinler |
JP4511655B2 (ja) * | 1999-08-25 | 2010-07-28 | ユニチカ株式会社 | ソルビトール脱水素酵素、それを産生する微生物およびその製造方法 |
US6916824B1 (en) | 1999-11-12 | 2005-07-12 | Kansas State University Research Foundation | Methods of treating cataracts and diabetic retinopathy with tricyclic pyrones |
EP1106210A3 (en) | 1999-12-07 | 2003-12-03 | Pfizer Products Inc. | Combination of aldose reductase inhibitors and antihypertensive agents for the treatment of diabetic complications |
US6570013B2 (en) | 2000-02-16 | 2003-05-27 | Pfizer Inc | Salts of zopolrestat |
BR0115783A (pt) * | 2000-11-30 | 2003-09-16 | Pfizer Prod Inc | Combinação de agonistas de gaba e inibidores de sorbitol desidrogenase |
SK11852003A3 (sk) | 2001-03-30 | 2004-07-07 | Pfizer Products Inc. | Derivát pyridazinónu ako inhibítor aldózreduktázy a farmaceutický prostriedok, ktorý ho obsahuje |
ATE342057T1 (de) | 2002-01-23 | 2006-11-15 | Lilly Co Eli | Melanocortinrezeptoragonisten |
AU2003243603A1 (en) | 2002-06-13 | 2003-12-31 | Board Of Regents, The University Of Texas System | Methods and compositions involving aldose reductase inhibitors |
WO2003106429A1 (ja) | 2002-06-14 | 2003-12-24 | 武田薬品工業株式会社 | プロドラッグおよびその製造法 |
SI2444102T1 (sl) * | 2003-01-31 | 2015-08-31 | Mount Sinai School Of Medicine Of New York University | Kombinirana terapija za zdravljenje motenj pomanjkanja proteina |
US7572910B2 (en) | 2003-02-20 | 2009-08-11 | Pfizer, Inc. | Pyridazinone aldose reductase inhibitors |
CA2543404A1 (en) | 2003-10-24 | 2005-05-06 | Meiji Seika Kaisha, Ltd. | Novel inhibitor of the formation of advanced glycation end product and aldose reductase inhibitor |
US20070021366A1 (en) | 2004-11-19 | 2007-01-25 | Srivastava Satish K | Structural-based inhibitors of the glutathione binding site in aldose reductase, methods of screening therefor and methods of use |
US20110092566A1 (en) | 2004-11-19 | 2011-04-21 | Srivastava Satish K | Treatment of cancer with aldose reductase inhibitors |
BRPI0809665B8 (pt) | 2007-04-05 | 2021-05-25 | Eisai Inc | anticorpo monoclonal que se liga especificamente a endosialina |
CN101143868A (zh) | 2007-09-04 | 2008-03-19 | 北京理工大学 | 醛糖还原酶抑制剂结构及用途 |
EP2065038A1 (en) | 2007-11-30 | 2009-06-03 | Pharnext | New therapeutic approaches for treating Charcot-Marie-Tooth disease |
CN102216281B (zh) * | 2008-09-06 | 2014-11-05 | 碧奥尼维亚制药股份有限公司 | 依帕司他的新胆碱共结晶 |
US20100215726A1 (en) | 2009-02-25 | 2010-08-26 | Peter Thomas Roth | Compositions for Diminishing the Appearance of Wrinkles |
WO2011037985A1 (en) | 2009-09-23 | 2011-03-31 | The Trustees Of The University Of Pennsylvania | Aminothienopyridazine inhibitors of tau assembly |
ES2532006T3 (es) * | 2009-11-20 | 2015-03-23 | Pharnext | Nuevas herramientas de diagnóstico para la enfermedad de Charcot-Marie-Tooth |
US8916563B2 (en) | 2010-07-16 | 2014-12-23 | The Trustees Of Columbia University In The City Of New York | Aldose reductase inhibitors and uses thereof |
DK3192796T3 (da) | 2010-07-16 | 2019-12-09 | Univ Columbia | Aldosereduktaseinhibitorer og anvendelser deraf |
WO2012138384A1 (en) | 2010-11-15 | 2012-10-11 | U.S. Army Medical Research And Materiel Command | Field sampling kit and methods for collecting and detecting alkyl methylphosphonic acids |
CN102512407B (zh) | 2011-11-23 | 2014-05-21 | 中山大学 | 一种β-苯丙氨酸类化合物作为醛糖还原酶抑制剂的应用 |
WO2013123403A1 (en) | 2012-02-15 | 2013-08-22 | Sanford-Burnham Medical Research Institute | Theranostics platform and methods of use |
GB201205739D0 (en) | 2012-03-30 | 2012-05-16 | Ucl Business Plc | Treatment of acute inflammation in the respiratory tract |
EP2877214B1 (en) * | 2012-07-26 | 2019-04-24 | Joslin Diabetes Center, Inc. | Predicting diabetic complications |
WO2014126885A1 (en) | 2013-02-13 | 2014-08-21 | Mylari Banavara L | Water soluble salts of aldose reductase inhibitors for treatment of diabetic complications |
US20170362237A1 (en) | 2016-06-17 | 2017-12-21 | Banavara L. Mylari | Water soluble salts of aldose reductase inhibitors for treatment of diabetic complications |
WO2014151078A1 (en) | 2013-03-15 | 2014-09-25 | Biogen Idec Ma Inc. | Assessment of labeled probes in a subject |
CN105264068A (zh) * | 2013-04-02 | 2016-01-20 | 三星生命公益财团 | Charcot-Marie-Tooth病的治疗剂的筛选方法以及为此所使用的自分化运动神经元 |
WO2017191274A2 (en) * | 2016-05-04 | 2017-11-09 | Curevac Ag | Rna encoding a therapeutic protein |
LT3352754T (lt) | 2016-06-21 | 2021-02-25 | The Trustees Of Columbia University In The City Of New York | Aldozės reduktazės inhibitoriai ir jų naudojimo būdai |
WO2018090006A1 (en) * | 2016-11-14 | 2018-05-17 | Memorial Sloan-Kettering Cancer Center | Methods for drug discovery using stem cell-derived schwann cells |
US11268082B2 (en) * | 2017-03-23 | 2022-03-08 | President And Fellows Of Harvard College | Nucleobase editors comprising nucleic acid programmable DNA binding proteins |
US20200131203A1 (en) | 2017-04-27 | 2020-04-30 | Applied Therapeutics, Inc. | Aldose reductase inhibitors and uses thereof |
WO2019023648A1 (en) | 2017-07-28 | 2019-01-31 | Applied Therapeutics Inc. | COMPOSITIONS AND METHODS FOR TREATING GALACTOSEMIA |
US11329472B2 (en) | 2018-07-20 | 2022-05-10 | Texas Instruments Incorporated | Methods and apparatus to prevent undesired triggering of short circuit or over current protection |
AU2019326265A1 (en) | 2018-08-20 | 2021-04-15 | Maggie's Pearl, Llc | Methods for treating congenital disorders of glycosylation |
US20220071880A1 (en) | 2019-02-12 | 2022-03-10 | Applied Therapeutics, Inc. | Methods for treating cutaneous aging |
WO2020205846A1 (en) | 2019-04-01 | 2020-10-08 | Applied Therapeutics Inc. | Inhibitors of aldose reductase |
MX2021013511A (es) | 2019-05-07 | 2022-02-23 | Univ Miami | Tratamiento y deteccion de neuropatias heredadas y trastornos asociados. |
CA3153108A1 (en) | 2019-10-08 | 2021-04-15 | Riccardo Perfetti | Aldose reductase inhibitors for treatment of phosphomannomutase 2 deficiency |
WO2021202523A1 (en) | 2020-03-31 | 2021-10-07 | Applied Therapeutics, Inc. | Aldose reductase inhibitors for the treatment of acute respiratory distress syndrome, acute lung inflammation/injury, cardiac injury and anti-viral therapy |
CA3176768A1 (en) | 2020-05-01 | 2021-11-04 | Shoshana SHENDELMAN | Aldose reductase inhibitors for treating sorbitol dehydrogenase deficiency |
-
2020
- 2020-05-06 MX MX2021013511A patent/MX2021013511A/es unknown
- 2020-05-06 CA CA3136100A patent/CA3136100A1/en active Pending
- 2020-05-06 SG SG11202111822QA patent/SG11202111822QA/en unknown
- 2020-05-06 WO PCT/US2020/031708 patent/WO2020227430A1/en unknown
- 2020-05-06 KR KR1020217039740A patent/KR20220025713A/ko active Pending
- 2020-05-06 BR BR112021021939A patent/BR112021021939A2/pt unknown
- 2020-05-06 CN CN202080033996.XA patent/CN113966396A/zh active Pending
- 2020-05-06 JP JP2021565930A patent/JP2022531466A/ja active Pending
- 2020-05-06 AU AU2020268368A patent/AU2020268368A1/en active Pending
- 2020-05-06 EP EP20801876.2A patent/EP3966320A4/en active Pending
-
2021
- 2021-11-01 IL IL287748A patent/IL287748A/en unknown
- 2021-11-02 US US17/517,227 patent/US20220125890A1/en not_active Abandoned
-
2022
- 2022-04-13 US US17/719,580 patent/US12083168B2/en active Active
-
2024
- 2024-07-30 US US18/788,923 patent/US20240374693A1/en active Pending
Also Published As
Publication number | Publication date |
---|---|
US20220125890A1 (en) | 2022-04-28 |
US20220249624A1 (en) | 2022-08-11 |
AU2020268368A1 (en) | 2022-01-06 |
BR112021021939A2 (pt) | 2022-02-22 |
KR20220025713A (ko) | 2022-03-03 |
JP2022531466A (ja) | 2022-07-06 |
IL287748A (en) | 2022-01-01 |
SG11202111822QA (en) | 2021-11-29 |
CA3136100A1 (en) | 2020-11-12 |
US12083168B2 (en) | 2024-09-10 |
WO2020227430A1 (en) | 2020-11-12 |
US20230293642A9 (en) | 2023-09-21 |
EP3966320A4 (en) | 2023-10-25 |
CN113966396A (zh) | 2022-01-21 |
EP3966320A1 (en) | 2022-03-16 |
US20240374693A1 (en) | 2024-11-14 |
Similar Documents
Publication | Publication Date | Title |
---|---|---|
MX2021013511A (es) | Tratamiento y deteccion de neuropatias heredadas y trastornos asociados. | |
Chakrabarti et al. | Target-specific precision of CRISPR-mediated genome editing | |
Xiao et al. | Poliovirus intrahost evolution is required to overcome tissue-specific innate immune responses | |
BR112022018769A2 (pt) | Detecção rápida do vírus sars-cov-2 implementável no campo | |
EA201790716A1 (ru) | Использование панелей мутантных генов fgfr для выявления онкологических пациентов, которые будут поддаваться лечению ингибитором fgfr | |
EA201890724A1 (ru) | Способы диагностики и оценки неалкогольного стеатогепатита | |
EA201791681A1 (ru) | Способ сайт-направленной модификации целого растения посредством транзиентной экспрессии гена | |
EA201792155A1 (ru) | Композиции и способы детектирования биологического загрязнителя | |
PH12019501942A1 (en) | Use of biomarkers in identifying cancer patients that will be responsive to treatment with a prmt5 inhibitor | |
WO2017156015A3 (en) | Micrornas and methods of their use | |
EA201991455A1 (ru) | Композиции и способы лечения дефицита альфа-1-антитрипсина | |
BR112019025056A2 (pt) | Inibidores de fgfr2 para o tratamento de colangiocarcinoma | |
PH12019500927A1 (en) | Farnesyltransferase inhibitors for use in methods of treating cancer | |
WO2017013217A3 (en) | Genetic testing for predicting resistance of salmonella species against antimicrobial agents | |
GB201202561D0 (en) | Treatment of skin disorders | |
WO2017013220A3 (en) | Genetic testing for predicting resistance of serratia species against antimicrobial agents | |
MX2017005941A (es) | Procesos para la producción de composiciones con perfil de seguridad mejorado teniendo actividad lipasa y composiciones adecuadas para medicamentos. | |
Lebeda et al. | First detection of tomato powdery mildew caused by Oidium neolycopersici in South Africa | |
WO2017049118A3 (en) | Reagents and methods for analysis of hiv | |
EA201992849A1 (ru) | Ингибиторы fgfr2 для лечения холангиокарциномы | |
Milo et al. | Dynamic responses of Fusarium mangiferae to ultra-violet radiation | |
EA201800225A2 (ru) | Способ дифференциальной диагностики ранней или выраженной стадии ревматоидного артрита с остеоартритом | |
Sala et al. | D105 CRITICAL CARE: FROM CELL TO MICE TO BEDSIDE-TRANSLATIONAL STUDIES IN SEPSIS AND PNEUMONIA: C-Jun N-Terminal Kinase 2 (JNK2) In Sepsis | |
CN106755055A (zh) | 用于抑制松材线虫基因表达的成套试剂与方法 | |
Gajdov et al. | Sequencing protocol and bioinformatics pipeline for the avian influenza virus |