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In the absence of Fgfrl1a, larvae fail to express the transcription factor glial cells missing 2 (gcm2 (zeige GCM2 Proteine)), a gene necessary for cartilage and gill filament formation, in the ectodermal lining of the branchial arches.
Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC (zeige GALC Proteine)), glucocerebrosidase (GBA (zeige GBA Proteine)), alpha-galactosidase A (GLA (zeige GLA Proteine)), alpha-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1 (zeige SMPD1 Proteine))) were measured on ~43,000 de-identified dried blood spot (DBS (zeige MCF2L Proteine)) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk
Using lysosomal storage disease mucopolysaccharidosis type I (MPS I) dogs tolerized to human IDUA as neonates, we evaluated intrathecal delivery of an adeno (zeige ADORA2A Proteine)-associated virus serotype 9 vector expressing human IDUA as a therapy for the central nervous system manifestations of MPS
IDUA deletion mutation is associate with with mucopolysaccharidosis type I .
Functional characterization of all the novel sequence variants identified in the study would be helpful to confirm the clinical significance and to determine the effect of these variations on the function of respective proteins (IDUA and IDS (zeige IDS Proteine))
Molecular studies results unveiled the predominance of(Pro533Arg) IDUA variation in a series of 13 Algerian patients with Mucopolysaccharidosis Type I presented mainly with an attenuated phenotype.
A new IDUA variant that alters the structure of the signal peptide associated with mucopolysaccharidosis type I is reported.
Amino acid substitutions in alpha-L-iduronidase determine the severity of mucopolysaccharidosis type I.
The alpha-L-iduronidase missense mutation causing L238Q substitution, when paired with a nonsense mutation, is associated with significant, late-onset brain disease.
We conclude that this procedure for determining residual IDUA activity in fibroblasts of MPS I patients may be helpful to predict MPS I phenotype.
The IDUA structures and biochemical analysis of the disease-relevant P533R mutation have enabled us to correlate the effects of mutations in IDUA to clinical phenotypes.
This study demonstrated that the distribuation of bis (zeige BAG3 Proteine)(monoacylglycero)phosphate in brain of mucopolysaccharidosis 1 (Hurler) mouse.
Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking alpha-l-iduronidase.
Studies show that mouse Idua-W392X mutation is analogous to the human IDUA-W402X mutation commonly found in MPS I-H patients.
Data show that late-stage erythroid cells, transduced with a tissue-specific lentiviral vector, can deliver alpha-L-iduronidase continuously and can correct the disease phenotype in both viscera and CNS of MPS I mice.
The results indicate that Idua(-/-) mice present deficits in long-term memory for aversive training and reduced exploratory behavior.
IDUA(-/-) mice from adolescence to maturity, exhibited locomotor and anxiety-like compulsive behaviors, spatial learning and memory, visual recognition and short-term non-associative memory retention.
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).
, fibroblast growth factor receptor-like 1