HEAVY CHAIN MEMBER OF THE KINESIN FAMILY HUMAN HOMOLOG

• Main Authors: GOOLD, RICHARD, D, AU-YOUNG, JANICE
• Format: Patent
• Language: English; French
• Published: 20.11.1997
• Edition: 6
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; ORGANIC CHEMISTRY; PEPTIDES; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; VINEGAR; WINE

The present invention provides nucleotide and amino acid sequences for a novel PAC10 human homolog. The present invention also provides for antisense molecules, diagnostic molecules, genetically engineered expression vectors and host cells for the production of purified PAC10 homologs; antibodies, agonists, antagonists and inhibitors of the PAC10 human homolog; and pharmaceutical compositions and methods of treatment based on the polypeptide, its antibodies, antagonists and inhibitors. The invention further provides diagnostic and therapeutic compositions for the detection and treatment of X-linked congenital abnormalities, such as centronuclear myopathy. Séquences de nucléotides et d'acides aminés pour un nouvel homologue humain de PAC10; molécules antisens, molécules de diagnostic, vecteurs d'expression mis au point par génie génétique et cellules hôtes pour la production d'homologues de PAC10 purifiés; anticorps, agonistes, antagonistes et inhibiteurs de l'homologue humain de PAC10 et compositions pharmaceutiques et méthodes de traitement basées sur le polypeptide, ses anticorps, antagonistes et inhibiteurs. La présente invention concerne encore des compositions thérapeutiques et diagnostiques pour la détection et le traitement d'anomalies congénitales liées au chromosome X, telles que la myopathie centronucléaire.