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1. WO2014209942 - MUTANT FACTOR VIII COMPOSITIONS AND METHODS

Publication Number WO/2014/209942
Publication Date 31.12.2014
International Application No. PCT/US2014/043777
International Filing Date 24.06.2014
IPC
C07K 14/755 2006.01
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
14Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
435from animals; from humans
745Blood coagulation or fibrinolysis factors
755Factors VIII
C12N 15/09 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09Recombinant DNA-technology
CPC
A61K 38/00
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
38Medicinal preparations containing peptides
C07K 14/755
CCHEMISTRY; METALLURGY
07ORGANIC CHEMISTRY
KPEPTIDES
14Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
435from animals; from humans
745Blood coagulation or fibrinolysis factors
755Factors VIII ; , e.g. factor VIII C (AHF), factor VIII Ag (VWF)
Applicants
  • XIAO, Weidong [US]/[US]
Inventors
  • XIAO, Weidong
  • CAO, Wenjing
  • DONG, Biao
Agents
  • YE, Michael
Priority Data
61/838,86724.06.2013US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) MUTANT FACTOR VIII COMPOSITIONS AND METHODS
(FR) COMPOSITIONS DE FACTEUR VIII MUTANT ET PROCÉDÉS
Abstract
(EN)
In one aspect, present invention provides a recombinant mutant human factor VIII having increased expression and/or secretion as compared to wild-type factor VIII. In certain embodiments, the recombinant factor VIII includes one or more amino acid substitution(s) selected from the group consisting of 186, Y105, A108, D115, Q117, F129, G132, H134, M147 and L152. In other aspects, the present invention provides FVIII encoding nucleic acids, FVIII-expression vectors, as well as methods of using the modified FVIII genes in the treatment of FVIII deficiencies, such as hemophilia A.
(FR)
Dans un aspect, la présente invention concerne un facteur VIII humain mutant recombinant ayant une expression et/ou sécrétion accrue(s) en comparaison au facteur VIII de type sauvage. Dans certains modes de réalisation, le facteur VIII recombinant comprend une ou plusieurs substitutions d'acide(s) aminé(s) choisie(s) dans le groupe consistant en 186, Y105, A108, D115, Q117, F129, G132, H134, M147 et L152. Dans d'autres aspects, la présente invention concerne des acides nucléiques codant pour FVIII, des vecteurs d'expression de FVIII, ainsi que des méthodes d'utilisation des gènes de FVIII modifiés dans le traitement de déficits en FVIII, tels que l'hémophilie A.
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