JP2007517494A5 - - Google Patents
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- Publication number
- JP2007517494A5 JP2007517494A5 JP2006524073A JP2006524073A JP2007517494A5 JP 2007517494 A5 JP2007517494 A5 JP 2007517494A5 JP 2006524073 A JP2006524073 A JP 2006524073A JP 2006524073 A JP2006524073 A JP 2006524073A JP 2007517494 A5 JP2007517494 A5 JP 2007517494A5
- Authority
- JP
- Japan
- Prior art keywords
- nipa
- gene
- polymorphism
- nucleic acid
- seq
- 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
- 108090000623 proteins and genes Proteins 0.000 claims description 49
- 238000000034 method Methods 0.000 claims description 36
- 150000007523 nucleic acids Chemical class 0.000 claims description 20
- 208000008675 hereditary spastic paraplegia Diseases 0.000 claims description 17
- 108020004707 nucleic acids Proteins 0.000 claims description 13
- 102000039446 nucleic acids Human genes 0.000 claims description 13
- 102000004169 proteins and genes Human genes 0.000 claims description 12
- 238000004458 analytical method Methods 0.000 claims description 11
- 238000001514 detection method Methods 0.000 claims description 8
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 7
- 108091026890 Coding region Proteins 0.000 claims description 6
- 230000035772 mutation Effects 0.000 claims description 6
- 150000001413 amino acids Chemical class 0.000 claims description 4
- 239000004475 Arginine Substances 0.000 claims description 3
- AYFVYJQAPQTCCC-UHFFFAOYSA-N Threonine Natural products CC(O)C(N)C(O)=O AYFVYJQAPQTCCC-UHFFFAOYSA-N 0.000 claims description 3
- 239000004473 Threonine Substances 0.000 claims description 3
- ODKSFYDXXFIFQN-UHFFFAOYSA-N arginine Natural products OC(=O)C(N)CCCNC(N)=N ODKSFYDXXFIFQN-UHFFFAOYSA-N 0.000 claims description 3
- 125000000637 arginyl group Chemical group N[C@@H](CCCNC(N)=N)C(=O)* 0.000 claims description 3
- 239000000203 mixture Substances 0.000 claims 7
- 238000003556 assay Methods 0.000 claims 6
- 239000012634 fragment Substances 0.000 claims 6
- 229920001184 polypeptide Polymers 0.000 claims 6
- 102000004196 processed proteins & peptides Human genes 0.000 claims 6
- 108090000765 processed proteins & peptides Proteins 0.000 claims 6
- 230000000694 effects Effects 0.000 claims 5
- 108020004414 DNA Proteins 0.000 claims 4
- 150000001875 compounds Chemical class 0.000 claims 4
- 238000009396 hybridization Methods 0.000 claims 4
- 238000012300 Sequence Analysis Methods 0.000 claims 3
- 239000003795 chemical substances by application Substances 0.000 claims 3
- 238000007405 data analysis Methods 0.000 claims 3
- 238000011330 nucleic acid test Methods 0.000 claims 3
- 238000012216 screening Methods 0.000 claims 2
- 108091034117 Oligonucleotide Proteins 0.000 claims 1
- 238000002405 diagnostic procedure Methods 0.000 claims 1
- 239000003814 drug Substances 0.000 claims 1
- 229940079593 drug Drugs 0.000 claims 1
- 230000001939 inductive effect Effects 0.000 claims 1
- 230000009261 transgenic effect Effects 0.000 claims 1
- 101000578262 Homo sapiens Magnesium transporter NIPA1 Proteins 0.000 description 8
- 102100028112 Magnesium transporter NIPA1 Human genes 0.000 description 8
- 208000031631 Autosomal dominant spastic paraplegia type 6 Diseases 0.000 description 4
- 125000003275 alpha amino acid group Chemical group 0.000 description 4
- 201000007102 hereditary spastic paraplegia 6 Diseases 0.000 description 4
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 description 2
- 108091081024 Start codon Proteins 0.000 description 2
- 239000003446 ligand Substances 0.000 description 2
- 102200000898 rs104894496 Human genes 0.000 description 2
- 230000001225 therapeutic effect Effects 0.000 description 2
- 206010064571 Gene mutation Diseases 0.000 description 1
- 238000000636 Northern blotting Methods 0.000 description 1
- 241000233803 Nypa Species 0.000 description 1
- 235000005305 Nypa fruticans Nutrition 0.000 description 1
- 206010033892 Paraplegia Diseases 0.000 description 1
- 230000003376 axonal effect Effects 0.000 description 1
- 239000002299 complementary DNA Substances 0.000 description 1
- 238000009223 counseling Methods 0.000 description 1
- 230000007850 degeneration Effects 0.000 description 1
- 239000012528 membrane Substances 0.000 description 1
- QNILTEGFHQSKFF-UHFFFAOYSA-N n-propan-2-ylprop-2-enamide Chemical compound CC(C)NC(=O)C=C QNILTEGFHQSKFF-UHFFFAOYSA-N 0.000 description 1
- 230000007918 pathogenicity Effects 0.000 description 1
- 230000011664 signaling Effects 0.000 description 1
- 230000004946 small molecule transport Effects 0.000 description 1
- 241000894007 species Species 0.000 description 1
- 208000011580 syndromic disease Diseases 0.000 description 1
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US49631703P | 2003-08-19 | 2003-08-19 | |
| US60/496,317 | 2003-08-19 | ||
| PCT/US2004/027061 WO2005018431A2 (en) | 2003-08-19 | 2004-08-19 | Compositions and methods for detecting and treating neurological conditions |
| US10/921,742 US7332282B2 (en) | 2003-08-19 | 2004-08-19 | Compositions and methods for detecting and treating neurological conditions |
| US10/921,742 | 2004-08-19 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2007517494A JP2007517494A (ja) | 2007-07-05 |
| JP2007517494A5 true JP2007517494A5 (cg-RX-API-DMAC7.html) | 2010-01-28 |
| JP4848276B2 JP4848276B2 (ja) | 2011-12-28 |
Family
ID=34798726
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2006524073A Expired - Lifetime JP4848276B2 (ja) | 2003-08-19 | 2004-08-19 | 神経学的状態の検出および治療のための組成物および方法 |
Country Status (4)
| Country | Link |
|---|---|
| US (4) | US7332282B2 (cg-RX-API-DMAC7.html) |
| JP (1) | JP4848276B2 (cg-RX-API-DMAC7.html) |
| CA (1) | CA2536108C (cg-RX-API-DMAC7.html) |
| WO (1) | WO2005018431A2 (cg-RX-API-DMAC7.html) |
Families Citing this family (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CA2536108C (en) | 2003-08-19 | 2012-10-16 | The Regents Of The University Of Michigan | Compositions and methods for detecting and treating hereditary spastic paraplegia |
| US7709215B2 (en) | 2007-06-01 | 2010-05-04 | Cytonics Corporation | Method for diagnosing and treating acute joint injury |
| US20090136465A1 (en) * | 2007-09-28 | 2009-05-28 | Intrexon Corporation | Therapeutic Gene-Switch Constructs and Bioreactors for the Expression of Biotherapeutic Molecules, and Uses Thereof |
| MX2023008826A (es) | 2021-02-01 | 2023-09-15 | Regenxbio Inc | Terapia génica para lipofuscinosis neuronal ceroidea. |
Family Cites Families (12)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| IL86832A (en) * | 1987-06-22 | 2002-09-12 | Medeva Holdings Bv | A recombinant DNA molecule containing a nucleotide sequence of part of the region encoding HBV pre-1s, an immunogenic particle containing multiple peptide monomers containing a pre-s1 epitope and pharmaceutical preparations containing it |
| US5474796A (en) * | 1991-09-04 | 1995-12-12 | Protogene Laboratories, Inc. | Method and apparatus for conducting an array of chemical reactions on a support surface |
| US7368531B2 (en) * | 1997-03-07 | 2008-05-06 | Human Genome Sciences, Inc. | Human secreted proteins |
| US20030065139A1 (en) * | 1998-03-19 | 2003-04-03 | Craig A. Rosen | Secreted protein hmmbd35 |
| CA2218199A1 (en) * | 1997-12-09 | 1999-06-09 | Mcgill University | Short gcg expansions in the pab ii gene for oculopharyngeal muscular dystrophy and diagnostic thereof |
| US20030092019A1 (en) * | 2001-01-09 | 2003-05-15 | Millennium Pharmaceuticals, Inc. | Methods and compositions for diagnosing and treating neuropsychiatric disorders such as schizophrenia |
| WO2002059142A2 (en) * | 2001-01-26 | 2002-08-01 | Epidauros Biotechnologies Ag | Polymorphisms in the human gene for the multidrug resistance-associated protein 1 (mrp-1) and their use in diagnostic and therapeutic applications |
| US6783969B1 (en) * | 2001-03-05 | 2004-08-31 | Nuvelo, Inc. | Cathepsin V-like polypeptides |
| JP4039884B2 (ja) | 2002-05-16 | 2008-01-30 | 株式会社リコー | 情報仮置き場管理方法、情報仮置き場管理装置、画像形成装置、プログラム及び記憶媒体 |
| AU2003290432A1 (en) * | 2002-12-26 | 2004-07-22 | Asahi Kasei Pharma Corporation | T cell activating gene |
| CA2536108C (en) * | 2003-08-19 | 2012-10-16 | The Regents Of The University Of Michigan | Compositions and methods for detecting and treating hereditary spastic paraplegia |
| CN1281621C (zh) * | 2003-11-19 | 2006-10-25 | 中山大学 | 利用nipa1基因突变热点诊断、治疗遗传性痉挛性截瘫的方法 |
-
2004
- 2004-08-19 CA CA2536108A patent/CA2536108C/en not_active Expired - Lifetime
- 2004-08-19 US US10/921,742 patent/US7332282B2/en not_active Expired - Lifetime
- 2004-08-19 JP JP2006524073A patent/JP4848276B2/ja not_active Expired - Lifetime
- 2004-08-19 WO PCT/US2004/027061 patent/WO2005018431A2/en not_active Ceased
-
2008
- 2008-02-07 US US12/027,834 patent/US8518638B2/en not_active Expired - Lifetime
-
2013
- 2013-08-08 US US13/962,587 patent/US9285375B2/en not_active Expired - Lifetime
-
2016
- 2016-02-03 US US15/014,876 patent/US9868990B2/en not_active Expired - Fee Related
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