The invention relates to synthetic polynucleotides encoding fukutin related protein (FKRP). The invention further relates to nucleic acid constructs comprising the synthetic polynucleotides and methods of using these synthetic polynucleotides to treat dystroglycanopathy disorders.

This invention relates to polynucleotides encoding mini-dystrophin proteins, viral vectors comprising the same, and methods of using the same for delivery of mini-dystrophin to a cell or a subject.

The present disclosure provides a modified human OTC protein having improved properties for the treatment of OTC deficiency in a patient. Preferably, the protein of the disclosure is produced from a codon optimized mRNA suitable for administration to a patient suffering from OTC deficiency wherein upon administration of the mRNA to the patient, the protein of the disclosure is expressed in the patient in therapeutically effective amounts to treat OTC deficiency. The present disclosure also provides codon optimized mRNA sequences encoding wild type human OTC comprising a 5′ UTR derived from a gene expressed by Arabidopsis thaliana for use in treating OTC deficiency in a patient.

Compositions and methods are provided for Tat-inducible expression of a CRISPR-associated endonuclease by a truncated HIV LTR promoter containing at least a core region and a TAR region of a HIV LTR promoter. The compositions may be used as a therapeutic treatment for the treatment and/or prevention of HIV.

A fusion protein includes heat shock protein 10 and brazzein protein. The fusion protein has an enhanced anti-oxidation activity and skin cell proliferation effect. It can be used as a cosmetic composition for ameliorating skin wrinkles. The cosmetic composition including the fusion protein can be advantageously used in future as a material of a functional cosmetic product.

The invention relates to the field of gene therapy and more specifically to hematopoietic stem and progenitor cells that have been genetically modified to express functional progranulin. Suitably, HSPCs that have gene edited using CRISPR/Cas technology, or have been transduced with lentiviral gene delivery vehicles. The invention also relates to the use of such modified HSPCs in therapy. In particular, the invention relates to use of the modified progranulin expressing HSPCs in the prevention or treatment of a neurodegenerative disease mediated by dysfunctional progranulin expression, such as frontotemporal dementia (FTD).

The present disclosure provides codon optimized nucleotide sequences encoding human alpha-galactosidase A, vectors, and host cells comprising codon optimized alpha-galactosidase A sequences, and methods of treating disorders such as Fabry disease comprising administering to the subject a codon optimized sequence encoding human alpha-galactosidase A.

The invention relates to a nucleic acid construct carrying ATP7B protein, an expression vector and a viral particle comprising the nucleic acid construct, and their use for treatment of Wilson's disease and other conditions caused by a deficiency or dysfunction of ATP7B protein. An AAV vector devised according to the invention significantly reduced urine Cu excretion, and liver Cu content in Wilson's disease mice treated with the vector, while ceruloplasmin activity was significantly restored. On the other hand, the administration of the vector resulted in the normalization of serum transaminases levels and of liver histology, together with a marked reduction of the inflammatory infiltrate.

Provided herein are genetically engineered gas vesicle expression systems (GVES) that are configured to express gas vesicles (GVs) in a mammalian cell, related gas vesicle polynucleotide constructs, gas vesicle reporting genetic circuits, vectors, genetically engineered mammalian cells, non-human mammalian hosts, compositions, methods and systems, which in several embodiments can be used together with contrast-enhanced imaging techniques to detect and report biological events in an imaging target site comprising a mammalian cell and/or organism.

The present invention relates to the prevention and/or treatment of retinal disorders, such as cone dystrophies, cone-rod dystrophies, in particular Achromatopsia.