Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.
New Orleans, United States. In J Bone Miner Res, Sep 2015
IDUA rs3755955 and rs6831280, and WNT16 rs2707466 were associated with BMD phenotypes in each respective stage, and in three stages combined, achieving GWS for both FN-BMD (p = 8.36 × 10(-10) , p = 5.26 × 10(-10) , and p = 3.01 × 10(-10) , respectively) and HIP-BMD (p = 3.26 × 10(-6) , p = 1.97 × 10(-6) , and p = 1.63 × 10(-12) , respectively).
A new generation of neurobiological drugs engineered to overcome the challenges of brain drug delivery.
Santa Monica, United States. In Drug News Perspect, 2008
A variety of HIRMAb fusion proteins were engineered aiming at the development of therapeutics for the central nervous system (CNS), i.e., stroke and Parkinson's disease, as in the case of HIRMAb-BDNF and HIRMAb-GDNF, respectively, HIRMAb-IDUA for the treatment of Hurler's disease, HIRMAb-A beta single chain antibody for passive immunotherapy of Alzheimer's disease, and HIRMAb-avidin as delivery system for biotinylated drugs, like siRNAs.
Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I.
New York City, United States. In Expert Opin Biol Ther, 2008
BACKGROUND: Laronidase (Aldurazyme) is a recombinant formulation of alpha-L-iduronidase, the enzyme deficient in mucopolysaccharidosis type I (MPS-I); a disorder associated with skeletal dysplasia, restricted joint movement, short stature, obstructive pulmonary disease, cardiac valvular problems and cognitive impairment (in the severe and intermediate variants).
Mucopolysaccharidosis Type I
Seattle, United States. In Unknown Journal, 2002
IDUA is the only gene in which pathogenic variants are currently known to cause MPS I. Sequence analysis is expected to identify both IDUA pathogenic variants in most individuals with MPS I. MANAGEMENT: Treatment of manifestations: Infant learning programs/special education for developmental delays; hats with visors/sunglasses to reduce glare; cardiac valve replacement as needed; physical therapy, orthopedic surgery as needed (joint replacement, atlanto-occipital stabilization, median nerve decompression for carpal tunnel syndrome); cerebrospinal fluid (CSF) shunting for hydrocephalus; tonsillectomy and adenoidectomy for Eustachian tube dysfunction and/or upper airway obstruction; tracheostomy for sleep apnea, pulmonary hypertension, right heart failure; PE tubes; surgical intervention for cervical myelopathy.