PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
PARK14 mutant (D331Y), (G517C), (T572I), (R632W), (N659S) or (R741Q) PLA2G6 failed to prevent rotenone-induced activation of mitochondrial apoptotic pathway and exert a neuroprotective effect.
|
29108286 |
2017 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neurodegeneration associated with genetic defects in phospholipase A(2).
|
18799783 |
2008 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
To find new keys to this incurable neurodegenerative disorder we focused on the poorly understood PARK14 disease locus (Pla2g6 gene) and the store-operated Ca(2+) signalling pathway.
|
26755131 |
2016 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging.
|
18570303 |
2009 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
Biomarker
|
disease |
BEFREE |
Mutated PLA2G6 causes PLA2G6-associated neurodegeneration (PLAN) including infantile neuroaxonal dystrophy (INAD) and adult-onset dystonia-parkinsonism (PARK14), which have unique clinical phenotypes.
|
25950622 |
2015 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging.
|
18570303 |
2009 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.
|
20886109 |
2010 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
PARK14 patients with homozygous (D331Y) PLA2G6 mutation display motor deficits of pure early-onset Parkinson's disease (PD).
|
30088174 |
2019 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
Biomarker
|
disease |
BEFREE |
PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14).
|
28991683 |
2017 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
|
16783378 |
2006 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.
|
20619503 |
2012 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging.
|
18570303 |
2009 |