Hirschsprung Disease
|
0.150 |
Biomarker
|
disease |
BEFREE |
In summary, we report for the first time the association of PSPN gene with HSCR and confirm the involvement of NRTN in the disease, with the identification of novel variants in those genes.
|
21206993 |
2011 |
Hirschsprung Disease
|
0.150 |
Biomarker
|
disease |
BEFREE |
Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR.
|
16618617 |
2006 |
Hirschsprung Disease
|
0.150 |
Biomarker
|
disease |
BEFREE |
Germline mutations of the RET proto-oncogene (RET), its ligand glial cell-derived neurotrophic factor (GDNF), and neurturin (NTN) gene have been reported in patients with Hirschsprung's disease.
|
11316186 |
2001 |
Hirschsprung Disease
|
0.150 |
Biomarker
|
disease |
BEFREE |
Recently, germline mutations of RET, GDNF, and NTN genes have been reported in HSCR.
|
10946353 |
2000 |
Hirschsprung Disease
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, it appears that the NTN mutation reported here is not sufficient to cause HSCR, and this multiplex family also segregates a RET mutation.
|
9700200 |
1998 |
Hirschsprung Disease
|
0.150 |
Biomarker
|
disease |
HPO |
|
|
|
Constipation
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Idiopathic slow transit constipation and megacolon are not associated with neurturin mutations.
|
12358679 |
2002 |
Constipation
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Previous studies in Parkinson's Disease (PD) models have shown promise with the use of recombinant adeno-associated virus serotype-2 (rAAV2)-neurturin (NRTN) [AAV2-NRTN] providing neuroprotection and behavioral improvements in preclinical models which subsequently resulted in several clinical studies in patients with PD.
|
31678350 |
2020 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three growth factors, glial cell-line derived neurotrophic factor (GDNF), neurturin (NRTN) and platelet-derived growth factor (PDGF-BB) have been tested in clinical trials in Parkinson's disease (PD) during the past 20 years.
|
30947516 |
2019 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Glial cell line-derived neurotrophic factor (GDNF) and its related neurturin (NRTN) can protect DA neurons in the neurotoxin but not α-synuclein animal models of PD, it failed in the clinical trials.
|
29959908 |
2018 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Neurturin (NRTN) provides trophic support to neurons and is considered a therapeutic agent for neurodegenerative diseases, such as Parkinson's disease.
|
29414779 |
2018 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Contrariwise, very limited success was obtained in clinical studies, where glial cell line-derived neurotrophic factor and neurturin were the neurotrophic factors of choice for Parkinson's disease therapy.
|
27928963 |
2017 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The structural effect of neurturin (NRTN) on the nigrostriatal dopaminergic system in animals remains unknown, although NRTN has been shown to be effective in Parkinson's disease animal models.
|
29176874 |
2017 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Long-Term Safety of Patients with Parkinson's Disease Receiving rAAV2-Neurturin (CERE-120) Gene Transfer.
|
26711317 |
2016 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Developing therapeutically more efficient Neurturin variants for treatment of Parkinson's disease.
|
27425888 |
2016 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In particular, studies employing glial cell line-derived neurotrophic factor (GDNF) and its family member neurturin (NRTN), as well as the recently described cerebral dopamine neurotrophic factor (CDNF) and the mesencephalic astrocyte-derived neurotrophic factor (MANF) have shown positive results in protecting and repairing dopaminergic neurons in various models of PD.
|
26616211 |
2016 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
As a scientist who has journeyed these events from the beginning and participated in many of the decisions that navigated this field, I consider it important for the movement disorder scientific community to reflect on the evolution of thought and to participate in the dialog over whether the investments were worthwhile.The most studied group of trophic factor for PD is the glial cell derived family of ligands, of which glial cell derived neurotrophic factor (GDNF) and neurturin are members, and are the best studied.
|
26611606 |
2016 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Moreover, open-label studies with GDNF as well as a study with NRTN showed clinical improvement, particularly in patients with early-stage PD.
|
26176331 |
2015 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We performed a 15- to 24-month, multicenter, double-blind trial in patients with advanced Parkinson disease (PD) who were randomly assigned to receive bilateral AAV2-neurturin injected bilaterally into the substantia nigra (2.0 × 10(11) vector genomes) and putamen (1.0 × 10(12) vector genomes) or sham surgery.
|
26061140 |
2015 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three gene transfer paradigms for Parkinson's disease have been explored: converting L-dopa into dopamine through AADC gene delivery in the putamen; synthesizing GABA through GAD gene delivery in the overactive subthalamic nucleus and providing neurotrophic support through neurturin gene delivery in the nigro-striatal pathway.
|
23331189 |
2013 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gene therapy has emerged as a potential breakthrough in the treatment of PD and early clinical trials using AAV2-neurturin, a trophic factor that has shown the ability to protect dopaminergic degeneration in preclinical PD models, are underway.
|
23228025 |
2013 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study provides Class IV evidence that bilateral neurturin gene delivery (CERE-120) to the SN plus putamen in patients with moderately advanced PD is feasible and safe.
|
23576625 |
2013 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
This may be best exemplified by adeno-associated virus serotype-2-neurturin (CERE-120), a viral-vector construct designed to deliver the neurotrophic factor, neurturin to degenerating nigrostriatal neurons in Parkinson's disease.
|
22926166 |
2013 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent advances in PD research have demonstrated that gene delivery of trophic factors, glial cell line-derived neurotrophic factor (GDNF) and neurturin, in particular, can provide structural and functional recovery in rodent and nonhuman primate models of PD.
|
23390096 |
2013 |