Compounds of formula (I) that are capable of acting as purine receptor antagonists, pharmaceutical compositions including the compounds, and methods of making the compounds, are disclosed. The compounds and compositions can be used in treating or preventing disorders related to purine receptor hyperfunctioning. ##STR00001##

Compounds of formula (I) that are capable of acting as purine receptor antagonists, pharmaceutical compositions including the compounds, and methods of making the compounds, are disclosed. The compounds and compositions can be used in treating or preventing disorders related to purine receptor hyperfunctioning. ##STR00001##

The invention relates to compositions of nicotinamide mononucleotide derivatives and their methods of use. The invention also relates to methods of preparing nicotinamide mononucleotide derivatives. The invention relates to pharmaceutical compositions and nutritional supplements containing a nicotinamide mononucleotide derivative. The invention relates to methods of using nicotinamide mononucleotide derivatives that promote the increase of intracellular levels of nicotinamide adenine dinucleotide (NAD+) in cells and tissues for treating diseases and improving cell and tissue survival.

The invention relates to compositions of nicotinamide mononucleotide derivatives and their methods of use. The invention also relates to methods of preparing nicotinamide mononucleotide derivatives. The invention relates to pharmaceutical compositions and nutritional supplements containing a nicotinamide mononucleotide derivative. The invention relates to methods of using nicotinamide mononucleotide derivatives that promote the increase of intracellular levels of nicotinamide adenine dinucleotide (NAD+) in cells and tissues for treating diseases and improving cell and tissue survival.

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators rescue several processes malfunctioning in autosomal recessive polycystic kidney disease (ARPKD), including increasing FPC and CFTR protein levels, increasing CFTR at the basolateral membrane and at the cilia, reducing cAMP, reducing ER Ca2+ release in response to thapsigargin, and reducing Hsp70, Hsp90, and Aha1. CFTR modulators also correct the trafficking of CFTR. All these maneuvers, either individually or in combination, reduce cyst growth in liver and improve liver, renal, pancreatic and lung function.

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators rescue several processes malfunctioning in autosomal recessive polycystic kidney disease (ARPKD), including increasing FPC and CFTR protein levels, increasing CFTR at the basolateral membrane and at the cilia, reducing cAMP, reducing ER Ca2+ release in response to thapsigargin, and reducing Hsp70, Hsp90, and Aha1. CFTR modulators also correct the trafficking of CFTR. All these maneuvers, either individually or in combination, reduce cyst growth in liver and improve liver, renal, pancreatic and lung function.

The application is directed to compounds of formulae (IA) and (IB) and their salts and solvates, wherein R.sup.1a, R.sup.2a, R.sup.3a, A.sup.1, A.sup.2, A.sup.3, R.sup.1b, R.sup.2b, R.sup.3b, B.sup.1, and B.sup.2 are as set forth in the specification, as well as to methods for their preparation, pharmaceutical compositions comprising the same, and use thereof for the treatment and/or prevention of, e.g., lysosomal storage diseases, such as Gaucher's disease, and α-synucleinopathies, such as Parkinson's disease.

##STR00001##

The application is directed to compounds of formulae (IA) and (IB) and their salts and solvates, wherein R.sup.1a, R.sup.2a, R.sup.3a, A.sup.1, A.sup.2, A.sup.3, R.sup.1b, R.sup.2b, R.sup.3b, B.sup.1, and B.sup.2 are as set forth in the specification, as well as to methods for their preparation, pharmaceutical compositions comprising the same, and use thereof for the treatment and/or prevention of, e.g., lysosomal storage diseases, such as Gaucher's disease, and α-synucleinopathies, such as Parkinson's disease.

##STR00001##

The present invention is directed to a method for inducing skipping of exon 24 of the cystic fibrosis transmembrane conductance regulator (CFTR) pre-mRNA. Further, treating cystic fibrosis (CF) using a splicing modulator, such as an antisense oligonucleotide, capable of inducing the skipping of exon 24 of the cystic fibrosis transmembrane conductance regulator (CFTR) pre-mRNA. Also provided are a composition and a kit comprising the splicing modulator.

The present invention is directed to a method for inducing skipping of exon 24 of the cystic fibrosis transmembrane conductance regulator (CFTR) pre-mRNA. Further, treating cystic fibrosis (CF) using a splicing modulator, such as an antisense oligonucleotide, capable of inducing the skipping of exon 24 of the cystic fibrosis transmembrane conductance regulator (CFTR) pre-mRNA. Also provided are a composition and a kit comprising the splicing modulator.