Abstract: The present invention relates to nucleotide sequences coding for human porphobilinogen deaminase that are optimised for higher expression in mammalian cells. The invention further relates to DNA constructs comprising such optimised synthetic coding sequences for use in gene therapy of conditions caused by a deficiency in porphobilinogen deaminase, such as acute intermittent porphyria. Accordingly, the present invention relates to a nucleic acid or a nucleic acid construct comprising a nucleotide sequence coding for a human porphobilinogen deaminase, wherein at least 320 of the codons coding for the human porphobilinogen deaminase are identical to the codons in SEQ ID NO: 1 or wherein at least 305 of the codons coding for the human porphobilinogen deaminase are identical to the codons in SEQ ID NO: 3.

Abstract: The invention provides a method for the treatment of cirrhosis and liver fibrosis by the use or viral vectors containing the gene encoding IGF-I. The invention discloses both parvoviral vectors and SV40-based vectors as well uses thereof for the treatment of cirrhosis and gene therapy and methods for the preparation of said viral vectors.

Abstract: The invention provides a method for the treatment of cirrhosis and liver fibrosis by the use or viral vectors containing the gene encoding IGF-I. The invention discloses both parvoviral vectors and SV40-based vectors as well uses thereof for the treatment of cirrhosis and gene therapy and methods for the preparation of said viral vectors.

Abstract: The present invention relates to an alanine glyoxylate aminotransferase (AGXT) I340M therapeutic for use as a medicament or in a method of treatment, for example in the treatment of an AGXT-responsive condition. The AGXT I340M therapeutic is an AGXT I340M protein comprising an amino acid sequence, which, when optimally aligned with SEQ ID NO: 2, comprises a methionine at a position corresponding to position 340 in SEQ ID NO: 2, a nucleic acid molecule encoding such an AGXT I340M protein, or a virion of a viral gene therapy vector comprising such a nucleic acid molecule. The AGXT I340M therapeutic has a higher specific activity as compared to other AGXT alleles and may therefore be advantageously used in the treatment of primary hyperoxaluria type I.

Abstract: The present invention relates to nucleotide sequences coding for human porphobilinogen deaminase that are optimised for higher expression in mammalian cells. The invention further relates to DNA constructs comprising such optimised synthetic coding sequences for use in gene therapy of conditions caused by a deficiency in porphobilinogen deaminase, such as acute intermittent porphyria. Accordingly, the present invention relates to a nucleic acid or a nucleic acid construct comprising a nucleotide sequence coding for a human porphobilinogen deaminase, wherein at least 320 of the codons coding for the human porphobilinogen deaminase are identical to the codons in SEQ ID NO: 1 or wherein at least 305 of the codons coding for the human porphobilinogen deaminase are identical to the codons in SEQ ID NO: 3.

Abstract: The present invention provides an improved, expression system for the regulated expression of an encoded protein or nucleic acid therapeutic molecule in the cells of a subject, for use in the treatment of disease. In particular, the present invention provides an improved, regulated gene expression system, and pharmaceutical compositions and uses thereof for treatment of disease.

Abstract: The composition for the cell-specific transfer of an active compound in specific target cells can be used as a diagnostic or therapeutic agent or for gene therapy. The composition includes virus-like particles, which are each composed of a number of viral protein molecules derived from JC virus, a cationic polymer, for example a polyamine, a polyimine or an amino acid polymer, especially polyethylenimine, as an anchor molecule for a cell-specific ligand, and preferably a ligand bound to the cationic polymer as a binding partner for a cell-specific receptor. The viral protein is advantageously encoded with a nucleic acid having nucleotide sequence as shown by SEQ. ID NO. 1.

Abstract: A device for producing and detecting induced heat radiation, in which movable mirror components are moved into and out of a crossed beam path by a stepping motor so as to be isogonal in the beam path. The stepping motor is controlled in such a manner that when the mirror components enter and leave the beam path, they leave at maximum speed. In another embodiment, a mirror component is pushed into and out of the beam path at a fixed angle of deviation.

Abstract: In a device for photothermically testing a surface (1) of a moving test specimen (2), an excitation beam (5) may be applied to a test area (13). The excitation beam (5) passes through an aperture (12) in a collecting lens (11) that reproduces the thermal radiation generated in a measuring area (14), so that the collecting lens (11) may be adapted to a wavelength of the excitation beam (5) passed to a detector (20). A coupling mirror (9) mounted in the path of excitation beam (5) has practically total reflectivity for the wavelength of the excitation beam (5) and is arranged in such a way that it is very small near the focal area of the excitation beam (5), so that together with the aperture (12) of the collecting lens (11) it only masks a small part of the thermal radiation (17) passed to the detector (20).

Abstract: A process, apparatus and heat microscope for testing the properties of materials by the photothermal effect includes generating a laser beam with a laser light source integrated into a portable measuring head, emitting the laser beam toward a region of a surface of a material sample to be tested, and focussing the laser beam to a desired measurement point diameter at a target light spot with optics at an end toward the laser beam, for absorbing a proportion of the amount of light energy with irradiated volume elements of the material sample and emitting infrared light signals from the surface of the volume elements and volume elements adjacent thereto. The emitted IR light signals are conducted to an optical decoupling element for conducting the emited IR light signals further and largely suppressing components of the laser beam reflected at the surface of the sample.