|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Background Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of α-L-iduronidase enzyme (IDUA), caused by recessive mutations in the IDUA gene.
|
31473686 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Since we previously observed that in patients with mucopolysaccharidosis (MPS) the storage of undegraded glycosaminoglycans (GAG) occurs from birth, in the present study we aimed to compare normal, untreated MPS I mice (knockout for alpha-l-iduronidase-IDUA), and MPS I mice treated with enzyme replacement therapy (ERT, Laronidase, 1.2mg/kg every 2 weeks) started from birth (ERT-neo) or from 2 months of age (ERT-ad).All mice were sacrificed at 6 months.
|
23562162 |
2013 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This pilot study analyzed 2862 dried blood spots (DBS) from newborns and 14 DBS from newborn patients with MPS (MPS I, n = 7; MPS II, n = 2; MPS III, n = 5).
|
27718145 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Additional studies in cultured neurons from MPS I mice showed that elevated spermine was essential for the abnormal neurite overgrowth exhibited by MPS neurons.
|
28934395 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although enzyme replacement therapy has become available for some MPS types (MPS I, MPS II and MPS VI), this treatment is not efficient when neurological symptoms occur, especially in MPS III (Sanfilippo disease).
|
19690584 |
2010 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conducted molecular analysis for 60 MPS-affected patients [MPS I (n = 30) (Hurler syndrome = 17, Hurler-Scheie syndrome = 13), and MPS II (n = 30) (severe = 18, attenuated = 12)] and identified a total of 44 [MPS I (n = 22) and MPS II (n = 22)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants.
|
27146977 |
2016 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type 1 (MPS-1), also known as Hurler's disease, is a congenital metabolic disorder caused by a mutation in the alpha-L-iduronidase (IDUA) gene, which results in the loss of lysosomal enzyme function for the degradation of glycosaminoglycans.
|
31065277 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively reviewed the clinical ophthalmologic features and electrodiagnostic results of 50 Taiwanese patients with a diagnosis of MPS (34 males and 16 females; age range, 1.1-34.9 years; nine with MPS I, 17 with MPS II, 17 with MPS IV, and seven with MPS VI).
|
30848093 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years-three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA).
|
31590383 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%).
|
26740238 |
2016 |
|
Mucopolysaccharidoses
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These results suggest that the accumulation of GAGs in murine MPS I bone has an inhibitory effect on cathepsin K activity, resulting in impaired osteoclast activity and decreased cartilage resorption, which may contribute to the bone pathology seen in MPS diseases.
|
19834056 |
2009 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS IIIA: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families.
|
18546277 |
2008 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I.
|
29046964 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
In severe MPS I (MPS IH, or Hurler syndrome) initial developmental trajectory is usually unremarkable but cognitive development shows a plateau by 2 to 4 years of age and then progressively regresses with aging.
|
30442188 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review describes the appearance and progression of neurological signs and symptoms in patients with MPS I, II, and III, based on presentations and discussions among an international group of experts during a meeting on the brain in MPS on April 28-30, 2016, and additional literature searches on this subject.
|
29074036 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA).
|
28585336 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Corneal clouding, causing visual impairment, is seen in nearly all patients with Mucopolysaccharidosis type 1 (MPS-1).
|
31786241 |
2019 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Using publicly available gene expression data, we determined that MPS1 overexpression corresponds positively with tumor grade and negatively with patient survival (two-sided t test, P < .001).
|
23940287 |
2013 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
On the basis of in vivo pharmacodynamic vs efficacy relationships, we predict that more than 80% inhibition of MPS1 activity for at least 24 h is required to achieve tumour stasis or regression by CCT271850.
|
28334731 |
2017 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In this study using reverse phase protein arrays (RPPAs), we assessed MPS1 mediated cell signaling pathways and demonstrated that inhibiting MPS1 could upregulate the expression of the tumor suppressor PDCD4 and MSH2 genes, by down regulating micro RNA-21 (miR-21).
|
25991676 |
2016 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Whole-genome duplication increases tumor cell sensitivity to MPS1 inhibition.
|
26637805 |
2016 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis.
|
22430208 |
2013 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Treatment of tumor cells in vitro with PF-7006 modulates expected Mps1-dependent biology as demonstrated by molecular and phenotypic measures (reduced pHH3-Ser10 levels, shorter duration of mitosis, micro-nucleation, and apoptosis).
|
26398286 |
2015 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
TP53 mutation-correlated genes predict the risk of tumor relapse and identify MPS1 as a potential therapeutic kinase in TP53-mutated breast cancers.
|
24462521 |
2014 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Prior studies showed that MPS1 inhibition with the small molecule NMS-P715 limits tumor growth in xenograft models.
|
24282275 |
2014 |