Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.
|
31493991 |
2020 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14).
|
30302010 |
2019 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PLA2G6-associated neurodegeneration (PLAN, NBIA2) is the second most common type of neurodegeneration with brain iron accumulation (NBIA), caused by recessive mutations of PLA2G6 gene, which encodes Ca<sup>2+</sup>-independent phospholipase A<sub>2</sub>β (iPLA<sub>2</sub>β).
|
30707893 |
2019 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy pedigree].
|
30772976 |
2019 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14).
|
31493761 |
2019 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
|
29739362 |
2018 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) includes a series of neurodegenerative diseases that result from the mutations in <i>PLA2G6</i>.
|
30619057 |
2018 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe how the defective catalytic activity of the PLA2G6 gene could be potentially overcome by enzyme replacement or gene correction, giving examples and challenges specific to INAD.
|
30619446 |
2018 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Altogether, these data demonstrate that Drosophila iPLA2-VIA mutants provide a useful model to study human PLA2G6-associated neurodegeneration.
|
29440694 |
2018 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phospholipase A2 group VI (PLA2G6) gene mutations have been identified in the majority of individuals with INAD.
|
30112060 |
2018 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we investigate glutamate (Glu)-evoked Ca<sup>2+</sup> signals in neurons and astrocytes in co-culture obtained from three INAD mouse model strains with Pla2g6 mutations, (i) hypomorphic Pla2g6 allele with reduced transcript levels, (ii) knocked-out Pla2g6, and (iii) (G373R)-point mutation with inactive VIA iPLA<sub>2</sub> enzyme.
|
28279750 |
2017 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study contributes to enrich the landscape of PLA2G6-associated INAD mutations and enforce the genotype-phenotype correlation.
|
28991683 |
2017 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
|
28821231 |
2017 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment.
|
27884548 |
2017 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Further large studies in various populations are warranted to elucidate what causes the difference in frequencies of PLA2G6 rearrangement mutations between INAD and dystonia-parkinsonism.
|
27942883 |
2017 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.
|
27268037 |
2016 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.
|
27516098 |
2016 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.
|
26668131 |
2016 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Thus, our findings bring new insight into molecular mechanism affected in INAD and highlight the non-canonical function of VIA iPLA2 in regulation of mitochondrial Ca(2+) handling.
|
27395788 |
2016 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration.
|
27378808 |
2016 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The patients with INAD had PLA2G6 mutations NM_003560.2: c.[950G>T];[426-1077dup] and c.[1799G>A];[2221C>T] and the patient with dystonia-parkinsonism had PLA2G6 mutations NM_003560.2: c.[609G>A];[2222G>A].
|
26668131 |
2016 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA sequence analysis of the entire coding region of PLA2G6 identified 13 different mutations, including five novel ones (p.Leu224Pro, p.Asp283Asn, p.Arg329Cys, p.Leu491Phe, and p.Arg649His), in 12/22 (54.55%) families with INAD and ANAD.
|
27196560 |
2016 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome.
|
26001724 |
2015 |
Infantile Neuroaxonal Dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
|
25164370 |
2015 |