CA2108927A1 - Gene de la maladie de wilson - Google Patents
Gene de la maladie de wilsonInfo
- Publication number
- CA2108927A1 CA2108927A1 CA002108927A CA2108927A CA2108927A1 CA 2108927 A1 CA2108927 A1 CA 2108927A1 CA 002108927 A CA002108927 A CA 002108927A CA 2108927 A CA2108927 A CA 2108927A CA 2108927 A1 CA2108927 A1 CA 2108927A1
- Authority
- CA
- Canada
- Prior art keywords
- gene
- wilson disease
- copper
- wnd
- mnk
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Granted
Links
- 208000002972 Hepatolenticular Degeneration Diseases 0.000 title abstract 4
- 108090000623 proteins and genes Proteins 0.000 title abstract 4
- 102000012437 Copper-Transporting ATPases Human genes 0.000 title abstract 3
- 208000018839 Wilson disease Diseases 0.000 title abstract 3
- 208000012583 Menkes disease Diseases 0.000 abstract 3
- RYGMFSIKBFXOCR-UHFFFAOYSA-N Copper Chemical compound [Cu] RYGMFSIKBFXOCR-UHFFFAOYSA-N 0.000 abstract 2
- 102100027591 Copper-transporting ATPase 2 Human genes 0.000 abstract 2
- 210000001106 artificial yeast chromosome Anatomy 0.000 abstract 2
- 229910052802 copper Inorganic materials 0.000 abstract 2
- 239000010949 copper Substances 0.000 abstract 2
- 210000004185 liver Anatomy 0.000 abstract 2
- 108091006112 ATPases Proteins 0.000 abstract 1
- 102000057290 Adenosine Triphosphatases Human genes 0.000 abstract 1
- 108010078791 Carrier Proteins Proteins 0.000 abstract 1
- 102000020856 Copper Transport Proteins Human genes 0.000 abstract 1
- 108091004554 Copper Transport Proteins Proteins 0.000 abstract 1
- 208000008948 Menkes Kinky Hair Syndrome Diseases 0.000 abstract 1
- 108090000069 P-type ATPases Proteins 0.000 abstract 1
- 238000009825 accumulation Methods 0.000 abstract 1
- 210000004556 brain Anatomy 0.000 abstract 1
- 210000000349 chromosome Anatomy 0.000 abstract 1
- 230000002950 deficient Effects 0.000 abstract 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 abstract 1
- 229910001385 heavy metal Inorganic materials 0.000 abstract 1
- 210000003734 kidney Anatomy 0.000 abstract 1
- 229910052751 metal Inorganic materials 0.000 abstract 1
- 239000002184 metal Substances 0.000 abstract 1
- 230000001988 toxicity Effects 0.000 abstract 1
- 231100000419 toxicity Toxicity 0.000 abstract 1
Classifications
-
- 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
- C12N9/14—Hydrolases (3)
-
- 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
- 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
-
- 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
- C12Q2600/172—Haplotypes
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Zoology (AREA)
- Engineering & Computer Science (AREA)
- Wood Science & Technology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Biotechnology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Analytical Chemistry (AREA)
- Pathology (AREA)
- Medicinal Chemistry (AREA)
- Biomedical Technology (AREA)
- Physics & Mathematics (AREA)
- Biophysics (AREA)
- Immunology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
Priority Applications (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CA002108927A CA2108927C (fr) | 1993-09-21 | 1993-10-21 | Gene de la maladie de wilson |
| PCT/CA1994/000519 WO1995008641A1 (fr) | 1993-09-21 | 1994-09-21 | Gene de la maladie de wilson |
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CA 2106602 CA2106602A1 (fr) | 1993-09-21 | 1993-09-21 | Gene de la maladie de wilson |
| CA2,106,602 | 1993-09-21 | ||
| CA002108927A CA2108927C (fr) | 1993-09-21 | 1993-10-21 | Gene de la maladie de wilson |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| CA2108927A1 true CA2108927A1 (fr) | 1995-04-22 |
| CA2108927C CA2108927C (fr) | 2008-09-02 |
Family
ID=25676655
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA002108927A Expired - Fee Related CA2108927C (fr) | 1993-09-21 | 1993-10-21 | Gene de la maladie de wilson |
Country Status (2)
| Country | Link |
|---|---|
| CA (1) | CA2108927C (fr) |
| WO (1) | WO1995008641A1 (fr) |
Families Citing this family (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2003038125A1 (fr) * | 2001-10-18 | 2003-05-08 | Bio Gene Technologies, Inc. | Procede modifie de criblage de mutation par pcr-sscp |
| US9827314B2 (en) | 2003-12-08 | 2017-11-28 | Mars, Incorporated | Edible compositions which are adapted for use by a companion animal |
| CN102232116A (zh) | 2008-10-03 | 2011-11-02 | 玛尔斯有限公司 | 用于狗肝铜积累的遗传检测和低铜宠物喂食 |
| KR101076612B1 (ko) | 2009-01-14 | 2011-10-26 | 재단법인 아산사회복지재단 | 윌슨병 진단용 조성물 |
| GB201120989D0 (en) | 2011-12-06 | 2012-01-18 | Mars Inc | Genetic test |
| GB201522416D0 (en) | 2015-12-18 | 2016-02-03 | Ucl Business Plc | Wilson's disease gene therapy |
| AU2019222767A1 (en) | 2018-02-14 | 2020-08-27 | Deep Genomics Incorporated | Oligonucleotide therapy for Wilson disease |
| US20210030725A1 (en) * | 2018-03-27 | 2021-02-04 | The Board Of Trustees Of The University Of Illinois | Restoration of transmembrane copper transport |
| WO2025110984A1 (fr) * | 2023-11-21 | 2025-05-30 | Hydrogene Therapeutics, Inc. | Compositions et méthodes pour le traitement de la maladie de wilson |
-
1993
- 1993-10-21 CA CA002108927A patent/CA2108927C/fr not_active Expired - Fee Related
-
1994
- 1994-09-21 WO PCT/CA1994/000519 patent/WO1995008641A1/fr not_active Ceased
Also Published As
| Publication number | Publication date |
|---|---|
| WO1995008641A1 (fr) | 1995-03-30 |
| CA2108927C (fr) | 2008-09-02 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request | ||
| MKLA | Lapsed |