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1. (WO2018128587) MUTANT SMCHD1 FOR THERAPY
Latest bibliographic data on file with the International Bureau    Submit observation

Pub. No.: WO/2018/128587 International Application No.: PCT/SG2018/050008
Publication Date: 12.07.2018 International Filing Date: 08.01.2018
IPC:
C07K 14/47 (2006.01) ,A61K 38/17 (2006.01) ,C12N 15/00 (2006.01) ,A61P 21/00 (2006.01)
Applicants: AGENCY FOR SCIENCE, TECHNOLOGY AND RESEARCH[SG/SG]; 1 Fusionopolis Way #20-10 Connexis North Tower Singapore 138632, SG
THE WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH; 1G Royal Parade, Parkville, Victoria 3052, AU
INSERM (INSITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE); 101, rue de Tolbiac 75013 Paris, FR
UNIVERSITÄTSMEDIZIN GÖTTINGEN; Georg-August-Universität Robert-Koch-Straße 40 37075 Göttingen, DE
Inventors: REVERSADE, Bruno; SG
AMIEL, Jeanne; FR
BLEWITT, Marnie; AU
MURPHY, James; AU
WOLLNIK, Bernd; DE
JAVED, Asif; SG
Agent: SPRUSON & FERGUSON (ASIA) PTE LTD; P.O. Box 1531 Robinson Road Post Office Singapore 903031, SG
Priority Data:
10201700129W06.01.2017SG
Title (EN) MUTANT SMCHD1 FOR THERAPY
(FR) MUTANT SMCHD1 POUR THÉRAPIE
Abstract: front page image
(EN) Disclosed is an isolated variant of SMCHD1 peptide, or fragment thereof, comprising one or more mutation(s) that increases SMCHD1 activity in a cell compared to a cell with a wild- etype SMCHD1 peptide. Also disclosed are isolated nucleic acid encoding the variant SMCHD1 peptide as described herein, a vector comprising the nucleic acid as described herein, a pharmaceutical composition comprising the peptide, nucleic acid, or vector as described herein, and a host cell comprising the vector as described herein. Also disclosed are a method of treating facioscapulohumeral muscular dystrophy (FSHD) in a subject in need thereof and a method of screening an agent capable of increasing SMCHD1 activity.
(FR) L'invention concerne un variant isolé du peptide SMCHD1, ou un fragment de celui-ci, comprenant une ou plusieurs mutations qui augmentent l'activité SMCHD1 dans une cellule par comparaison à une cellule avec un peptide SMCHD1 de type sauvage. L'invention concerne également un acide nucléique isolé codant pour le peptide SMCHD1 variant de l'invention, un vecteur comprenant l'acide nucléique décrit, une composition pharmaceutique comprenant le peptide, l'acide nucléique, ou le vecteur de l'invention, et une cellule hôte comprenant le vecteur déjà décrit. L'invention concerne également un procédé de traitement de la dystrophie musculaire facio-scapulo-humérale (FSHD) chez un sujet en ayant besoin et un procédé de criblage d'un agent capable d'augmenter l'activité SMCHD1.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)