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Iduronidase, alpha-L-

alpha-L-iduronidase, IDUA
This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, AGE, ACID, V1a
Papers on alpha-L-iduronidase
Impaired Hematopoiesis and Disrupted Monocyte/Macrophage Homeostasis in Mucopolysaccharidosis Type I Mice.
New
D'Almeida et al., São Paulo, Brazil. In J Cell Physiol, Mar 2016
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by alpha-L-iduronidase deficiency in which heparan and dermatan sulfate degradation is compromised.
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
New
Mucopolysaccharidosis I Intrathecal Research Collaborative et al., Torrance, United States. In Mol Genet Metab, Sep 2015
Enzyme replacement therapy with laronidase (recombinant human alpha-l-iduronidase) is successfully used to treat patients with mucopolysaccharidosis type I (MPS I).
Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.
New
Deng et al., 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).
Cationic Nanoemulsions as a Gene Delivery System: Proof of Concept in the Mucopolysaccharidosis I Murine Model.
Matte et al., In J Nanosci Nanotechnol, 2015
Mucopolysaccharidosis I (MPS I) is an autosomal recessive lysosomal storage disease due to deficient a-L-iduronidase (IDUA) activity.
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.
Jin et al., Seoul, South Korea. In Orphanet J Rare Dis, 2014
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of alpha-L-iduronidase (IDUA), which is involved in the degradation of glycosaminoglycans (GAGs), such as heparan sulfate and dermatan sulfate in the lysosome.
Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I.
Review
Wraith et al., In Cochrane Database Syst Rev, 2012
It is a rare, autosomal recessive disorder caused by a deficiency of alpha-L-iduronidase.
Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
Review
Wraith et al., Manchester, United Kingdom. In Cochrane Database Syst Rev, 2012
It is a rare, autosomal recessive disorder caused by a deficiency of alpha-L-iduronidase.
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
GeneRIF
Mørkrid et al., Oslo, Norway. In Mol Genet Metab, 2011
A previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+3G>C) causing a Hurler phenotype in a patient heterozygous for the common p.Q70X (NG_008103.1:g.5862C>T) mutation.
Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking α-l-iduronidase.
GeneRIF
Merry et al., Manchester, United Kingdom. In J Biol Chem, 2011
Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking alpha-l-iduronidase.
Direct gene transfer to the CNS prevents emergence of neurologic disease in a murine model of mucopolysaccharidosis type I.
GeneRIF
McIvor et al., Minneapolis, United States. In Neurobiol Dis, 2011
Transfer of a high level of human alpha-L-iduronidase gene into the central nervous system (CNS) of MPS I mutant mice susceptible to mucopolysaccharidosis (MPS) improves the outcome for MPS when a high level of CNS gene expression is achieved.
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
GeneRIF
Miled et al., Sousse, Tunisia. In Diagn Pathol, 2010
This paper, showed a heterogeneous pattern of mutations and polymorphisms in the IDUA gene among Tunisian patients.
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
GeneRIF
Miled et al., Sousse, Tunisia. In Diagn Pathol, 2010
The identification of two novel alpha-L-iduronidase mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia.
A new generation of neurobiological drugs engineered to overcome the challenges of brain drug delivery.
Review
Boado, 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.
Review
Pastores, 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).
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.
Impact
Kurtzberg et al., Durham, United States. In N Engl J Med, 2004
RESULTS: Cord-blood donors had normal alpha-L-iduronidase activity (mean number of cells, 10.53x10(7) per kilogram of body weight) and were discordant for up to three of six HLA markers.
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I.
Review
Impact
Brooks et al., Adelaide, Australia. In Lancet, 2003
BACKGROUND: Enzyme-replacement therapy has been assessed as a treatment for patients who have mucopolysaccharidosis I (alpha-L-iduronidase deficiency).
Mucopolysaccharidosis Type I
Review
Heppner et al., 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.
Enzyme-replacement therapy in mucopolysaccharidosis I.
Impact
Neufeld et al., Torrance, United States. In N Engl J Med, 2001
BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase.
The gene for achondroplasia maps to the telomeric region of chromosome 4p.
Impact
Tsipouras et al., Farmington, United States. In Nat Genet, 1994
A positive lod score of z = 3.35 with no recombinants was obtained with an intragenic marker for IDUA.
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.
Impact
Munnich et al., Paris, France. In Nat Genet, 1994
by linkage to the iduronidase A (IDUA) locus, in 15 informative families (Z max = 3.01 at theta = 0 for ACH; Z max = 4.71 at theta = 0 for ACH/HCH).
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