Recent findings indicate that a major mechanism by which poly(ADP-ribose) polymerase (PARP)
inhibitors kill cancer cells is by trapping PARP1 and PARP2 to the sites of DNA damage…

We discovered and developed a novel series of tetrahydropyridophthlazinones as poly(ADP-ribose)
polymerase (PARP) 1 and 2 inhibitors. Lead optimization led to the identification of (…

Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal
storage disease characterized by profound intellectual disability, dementia, and a lifespan of …

Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating
autosomal dominant mutation in the fibroblast growth factor receptor-3 gene. Genetic …

Sanfilippo syndrome type B (mucopolysaccharidosis IIIB), caused by inherited deficiency of
α-N-acetylglucosaminidase (NAGLU), required for lysosomal degradation of heparan sulfate …

Poly(ADP-ribose) polymerases 1 and 2 (PARP1 and PARP2), which are involved in DNA
damage response, are targets of anticancer therapeutics. BMN 673 is a novel PARP1/2 …

Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to
genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent …

BMN 250 is being developed as enzyme replacement therapy for Sanfilippo type B, a
primarily neurological rare disease, in which patients have deficient lysosomal alpha-N-…

Sanfilippo syndrome type B, or mucopolysaccharidosis IIIB (MPS IIIB), is a rare autosomal
recessive lysosomal storage disease caused by a deficiency of α-N-acetylglucosaminidase (…

Given the large and expanding quantity of publicly available sequencing data, it should be
possible to extract incidence information for monogenic diseases from allele frequencies, …