FI3635102T3 - B4GALT1-variantteja ja niiden käyttöjä - Google Patents

B4GALT1-variantteja ja niiden käyttöjä

Info

Publication number
FI3635102T3
FI3635102T3 FIEP18733472.7T FI18733472T FI3635102T3 FI 3635102 T3 FI3635102 T3 FI 3635102T3 FI 18733472 T FI18733472 T FI 18733472T FI 3635102 T3 FI3635102 T3 FI 3635102T3
Authority
FI
Finland
Prior art keywords
nucleic acid
b4galt1
seq
acid molecule
levels
Prior art date
Application number
FIEP18733472.7T
Other languages
English (en)
Finnish (fi)
Inventor
May Montasser
Hout Cristopher Van
Alan Shuldiner
Giusy Gatta
Matthew Healy
Marja Puurunen
Original Assignee
Regeneron Pharma
Univ Maryland
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by Regeneron Pharma, Univ Maryland filed Critical Regeneron Pharma
Application granted granted Critical
Publication of FI3635102T3 publication Critical patent/FI3635102T3/fi

Links

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
    • C12N9/10—Transferases (2.)
    • C12N9/1048—Glycosyltransferases (2.4)
    • C12N9/1051—Hexosyltransferases (2.4.1)
    • 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
    • C12Y—ENZYMES
    • C12Y204/00—Glycosyltransferases (2.4)
    • C12Y204/01—Hexosyltransferases (2.4.1)
    • C12Y204/01133—Xylosylprotein 4-beta-galactosyltransferase (2.4.1.133)

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Enzymes And Modification Thereof (AREA)
FIEP18733472.7T 2017-06-05 2018-06-04 B4GALT1-variantteja ja niiden käyttöjä FI3635102T3 (fi)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US201762515140P 2017-06-05 2017-06-05
US201762550161P 2017-08-25 2017-08-25
US201862659344P 2018-04-18 2018-04-18
PCT/US2018/035806 WO2018226560A1 (en) 2017-06-05 2018-06-04 B4galt1 variants and uses thereof

Publications (1)

Publication Number Publication Date
FI3635102T3 true FI3635102T3 (fi) 2025-10-28

Family

ID=62705750

Family Applications (1)

Application Number Title Priority Date Filing Date
FIEP18733472.7T FI3635102T3 (fi) 2017-06-05 2018-06-04 B4GALT1-variantteja ja niiden käyttöjä

Country Status (14)

Country Link
US (2) US10738284B2 (cg-RX-API-DMAC7.html)
EP (1) EP3635102B1 (cg-RX-API-DMAC7.html)
JP (2) JP7661009B2 (cg-RX-API-DMAC7.html)
KR (1) KR102624979B1 (cg-RX-API-DMAC7.html)
CN (1) CN110997906B (cg-RX-API-DMAC7.html)
AU (1) AU2018282072B2 (cg-RX-API-DMAC7.html)
CA (1) CA3065938A1 (cg-RX-API-DMAC7.html)
DK (1) DK3635102T3 (cg-RX-API-DMAC7.html)
ES (1) ES3049196T3 (cg-RX-API-DMAC7.html)
FI (1) FI3635102T3 (cg-RX-API-DMAC7.html)
IL (1) IL271073B2 (cg-RX-API-DMAC7.html)
MX (1) MX2019014661A (cg-RX-API-DMAC7.html)
SG (1) SG11201911597YA (cg-RX-API-DMAC7.html)
WO (1) WO2018226560A1 (cg-RX-API-DMAC7.html)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3635102B1 (en) 2017-06-05 2025-08-13 Regeneron Pharmaceuticals, Inc. B4galt1 variants and uses thereof
IL295080A (en) * 2020-03-04 2022-09-01 Regeneron Pharma A rodent model of b4galt1-mediated functions
WO2023232983A1 (en) 2022-06-01 2023-12-07 E-Therapeutics Plc Inhibitors of expression and/or function
AU2023390632A1 (en) * 2022-12-09 2025-07-10 Proqr Therapeutics Ii B.V. Antisense oligonucleotides for the treatment of cardiovascular disease
CN115960926A (zh) * 2022-12-30 2023-04-14 南方科技大学 一种mRNA及含有mRNA的药物
WO2025021989A1 (en) * 2023-07-27 2025-01-30 E-Therapeutics Plc Inhibitors of expression and/or function

Family Cites Families (53)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4399216A (en) 1980-02-25 1983-08-16 The Trustees Of Columbia University Processes for inserting DNA into eucaryotic cells and for producing proteinaceous materials
US4634665A (en) 1980-02-25 1987-01-06 The Trustees Of Columbia University In The City Of New York Processes for inserting DNA into eucaryotic cells and for producing proteinaceous materials
US5179017A (en) 1980-02-25 1993-01-12 The Trustees Of Columbia University In The City Of New York Processes for inserting DNA into eucaryotic cells and for producing proteinaceous materials
US4751180A (en) 1985-03-28 1988-06-14 Chiron Corporation Expression using fused genes providing for protein product
US4935233A (en) 1985-12-02 1990-06-19 G. D. Searle And Company Covalently linked polypeptide cell modulators
US5294533A (en) 1988-07-05 1994-03-15 Baylor College Of Medicine Antisense oligonucleotide antibiotics complementary to the macromolecular synthesis operon, methods of treating bacterial infections and methods for identification of bacteria
US5135917A (en) 1990-07-12 1992-08-04 Nova Pharmaceutical Corporation Interleukin receptor expression inhibiting antisense oligonucleotides
US5271941A (en) 1990-11-02 1993-12-21 Cho Chung Yoon S Antisense oligonucleotides of human regulatory subunit RI.sub.α of cAMP-dependent protein kinases
US5786138A (en) 1993-01-29 1998-07-28 Board Of Supervisors Of Louisiana State University And Agricultural And Mechanical College Hyperstabilizing antisense nucleic acid binding agents
AU693097B2 (en) 1993-06-04 1998-06-25 Government Of The United States Of America, As Represented By The Secretary Of The Department Of Health And Human Services, The Method for treating kaposi's sarcoma with antisense oligonucleotides
US5578716A (en) 1993-12-01 1996-11-26 Mcgill University DNA methyltransferase antisense oligonucleotides
US5641754A (en) 1994-01-10 1997-06-24 The Board Of Regents Of The University Of Nebraska Antisense oligonucleotide compositions for selectively killing cancer cells
EP0775204A1 (en) 1994-08-09 1997-05-28 Novartis AG Antitumor antisense oligonucleotides
US5856103A (en) 1994-10-07 1999-01-05 Board Of Regents The University Of Texas Method for selectively ranking sequences for antisense targeting
US5994320A (en) 1995-02-06 1999-11-30 Regents Of The University Of Minnesota Antisense oligonucleotides and methods for treating central nervous system tumors
IT1275862B1 (it) 1995-03-03 1997-10-24 Consiglio Nazionale Ricerche Trascritto antisenso associato ad alcuni tipi di cellule tumorali ed oligodeossinucleotidi sintetici utili nella diagnosi e nel trattamento
US6040296A (en) 1995-06-07 2000-03-21 East Carolina University Specific antisense oligonucleotide composition & method for treatment of disorders associated with bronchoconstriction and lung inflammation
WO1997014709A1 (en) 1995-10-13 1997-04-24 F. Hoffmann-La Roche Ag Antisense oligomers
JPH11507245A (ja) 1995-11-21 1999-06-29 アイシーエヌ・ファーマシューティカルズ・インコーポレイテッド Ｉｌ―８およびｉｌ―８受容体に対するアンチセンスオリゴヌクレオチドによる睡瘍増殖の阻害
AU708535B2 (en) 1996-02-15 1999-08-05 Cleveland Clinic Foundation, The RNase L activators and antisense oligonucleotides effective to treat RSV infections
US5955590A (en) 1996-07-15 1999-09-21 Worcester Foundation For Biomedical Research Conjugates of minor groove DNA binders with antisense oligonucleotides
US6046004A (en) 1997-02-27 2000-04-04 Lorne Park Research, Inc. Solution hybridization of nucleic acids with antisense probes having modified backbones
JPH1142091A (ja) 1997-07-25 1999-02-16 Toagosei Co Ltd アンチセンス核酸化合物
US6046319A (en) 1997-10-22 2000-04-04 University Technologies International, Inc. Antisense oligodeoxynucleotides regulating expression of TNF-α
US6007995A (en) 1998-06-26 1999-12-28 Isis Pharmaceuticals Inc. Antisense inhibition of TNFR1 expression
US6013522A (en) 1999-02-23 2000-01-11 Isis Pharmaceuticals Inc. Antisense inhibition of human Smad1 expression
US6025198A (en) 1999-06-25 2000-02-15 Isis Pharmaceuticals Inc. Antisense modulation of Ship-2 expression
US6033910A (en) 1999-07-19 2000-03-07 Isis Pharmaceuticals Inc. Antisense inhibition of MAP kinase kinase 6 expression
CN100575485C (zh) 2002-01-23 2009-12-30 犹他大学研究基金会 使用锌指核酸酶的定向染色体诱变
EP2368982A3 (en) 2002-03-21 2011-10-12 Sangamo BioSciences, Inc. Methods and compositions for using zinc finger endonucleases to enhance homologous recombination
JP2006502748A (ja) 2002-09-05 2006-01-26 カリフォルニア インスティテュート オブ テクノロジー 遺伝子ターゲッティングを誘発するキメラヌクレアーゼの使用方法
US7888121B2 (en) 2003-08-08 2011-02-15 Sangamo Biosciences, Inc. Methods and compositions for targeted cleavage and recombination
US8409861B2 (en) 2003-08-08 2013-04-02 Sangamo Biosciences, Inc. Targeted deletion of cellular DNA sequences
US20080299042A1 (en) 2004-04-30 2008-12-04 Biogen Idec Ma Inc. Membrane Associated Molecules
US7374927B2 (en) 2004-05-03 2008-05-20 Affymetrix, Inc. Methods of analysis of degraded nucleic acid samples
EP1789095A2 (en) 2004-09-16 2007-05-30 Sangamo Biosciences Inc. Compositions and methods for protein production
US8512991B2 (en) * 2007-08-22 2013-08-20 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Beta 1,4-galactosyltransferases with altered donor and acceptor specificities, compositions and methods of use
WO2009102820A2 (en) * 2008-02-11 2009-08-20 Government Of The U.S A., As Represented By The Secretary, Department Of Health And Human Services Modified sugar substrates and methods of use
US20110239315A1 (en) 2009-01-12 2011-09-29 Ulla Bonas Modular dna-binding domains and methods of use
US8772008B2 (en) 2009-05-18 2014-07-08 Sangamo Biosciences, Inc. Methods and compositions for increasing nuclease activity
HUE041436T2 (hu) 2009-12-10 2019-05-28 Univ Minnesota Tal-effektor-közvetített DNS-módosítás
GB201000688D0 (en) * 2010-01-15 2010-03-03 Diagenic Asa Product and method
WO2011145121A1 (en) 2010-05-18 2011-11-24 Scatolificio Mogliani S.N.C. Di Mogliani Mauro E Andrea Cardboard box for stable stacking with other identical specimens
RU2444378C1 (ru) 2010-09-06 2012-03-10 Олег Германович Макеев Способ лечения коронарной недостаточности при моделируемой ишемии миокарда
WO2013176772A1 (en) 2012-05-25 2013-11-28 The Regents Of The University Of California Methods and compositions for rna-directed target dna modification and for rna-directed modulation of transcription
CN110643600A (zh) 2012-10-23 2020-01-03 基因工具股份有限公司 用于切割靶dna的系统及其用途
LT3138910T (lt) 2012-12-06 2017-11-10 Sigma-Aldrich Co. Llc Crispr pagrįstas genomo modifikavimas ir reguliavimas
EP2921557B1 (en) 2012-12-12 2016-07-13 The Broad Institute, Inc. Engineering of systems, methods and optimized guide compositions for sequence manipulation
WO2014131833A1 (en) 2013-02-27 2014-09-04 Helmholtz Zentrum München Deutsches Forschungszentrum Für Gesundheit Und Umwelt (Gmbh) Gene editing in the oocyte by cas9 nucleases
KR102271292B1 (ko) 2013-03-15 2021-07-02 더 제너럴 하스피탈 코포레이션 Rna-안내 게놈 편집의 특이성을 증가시키기 위한 rna-안내 foki 뉴클레아제(rfn)의 용도
CN115261411A (zh) 2013-04-04 2022-11-01 哈佛学院校长同事会 利用CRISPR/Cas系统的基因组编辑的治疗性用途
US20140356956A1 (en) 2013-06-04 2014-12-04 President And Fellows Of Harvard College RNA-Guided Transcriptional Regulation
EP3635102B1 (en) 2017-06-05 2025-08-13 Regeneron Pharmaceuticals, Inc. B4galt1 variants and uses thereof

Also Published As

Publication number Publication date
US10738284B2 (en) 2020-08-11
IL271073B2 (en) 2025-10-01
SG11201911597YA (en) 2020-01-30
CA3065938A1 (en) 2018-12-13
EP3635102A1 (en) 2020-04-15
JP2020527329A (ja) 2020-09-10
RU2019144018A3 (cg-RX-API-DMAC7.html) 2022-03-04
JP2023113657A (ja) 2023-08-16
IL271073A (en) 2020-01-30
US20200399617A1 (en) 2020-12-24
KR102624979B1 (ko) 2024-01-16
EP3635102B1 (en) 2025-08-13
DK3635102T3 (da) 2025-10-27
JP7661009B2 (ja) 2025-04-14
US20180346888A1 (en) 2018-12-06
WO2018226560A1 (en) 2018-12-13
AU2018282072B2 (en) 2024-06-27
IL271073B1 (en) 2025-06-01
MX2019014661A (es) 2020-07-29
RU2019144018A (ru) 2021-07-09
ES3049196T3 (en) 2025-12-15
CN110997906B (zh) 2024-05-07
AU2018282072A1 (en) 2020-01-16
CN110997906A (zh) 2020-04-10
US12480103B2 (en) 2025-11-25
KR20200024772A (ko) 2020-03-09

Similar Documents

Publication Publication Date Title
FI3635102T3 (fi) B4GALT1-variantteja ja niiden käyttöjä
Ogilvie et al. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
Tie et al. Structural and functional insights into enzymes of the vitamin K cycle
Bridges et al. Subunit NDUFV3 is present in two distinct isoforms in mammalian complex I
Krawitz et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation
Carroll et al. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
Medeiros et al. Mutations in the human phospholamban gene in patients with heart failure
Biesiadecki et al. Cardiac troponin T variants produced by aberrant splicing of multiple exons in animals with high instances of dilated cardiomyopathy
Applebaum-Bowden et al. Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium.
Joshi et al. Functional consequences of transferrin receptor‐2 mutations causing hereditary hemochromatosis type 3
JP2020527329A5 (cg-RX-API-DMAC7.html)
Shimokawa et al. Increased expression of endothelial lipase in rat models of hypertension
Chen et al. Palmitoyl acyltransferase activity of ZDHHC13 regulates skin barrier development partly by controlling PADi3 and TGM1 protein stability
Veitinger et al. A combined proteomic and genetic analysis of the highly variable platelet proteome: from plasmatic proteins and SNPs
Yuan et al. Mitochondrial myopathy with autophagic vacuoles in patients with the m. 8344A> G mutation
Wang et al. Identification of differentially expressed proteins in adipose tissue of divergently selected broilers
CN104450727A (zh) X-连锁低磷酸盐血症性佝偻病的致病基因及其编码蛋白质和应用
KR102547505B1 (ko) 주요 우울 장애 치료 효과 조기 예측용 바이오마커
CN104928297A (zh) 分离的家族性高甘油三酯血症疾病的lpl新突变致病基因及检测该基因的试剂盒
Larsen et al. Porcine SLITRK1: Molecular cloning and characterization
Qin et al. Rare LPL gene missense mutation in an infant with hypertriglyceridemia
CN113234134B (zh) 一种远端关节挛缩综合症致病基因myh3及其用途
Colinet et al. SARS-CoV2 infection triggers reactive astrocyte states and inflammatory conditions in long-term Human Cortical Organoids
Stasiak et al. Characterization of the hepcidin gene in eight species of bats
US8309687B2 (en) Biomarker specific for cancer