Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The responsible gene ATP13A2 was also associated with hereditary spastic paraplegia, uncomplicated early - or late-onset parkinsonism and a form of neuronal ceroid lipofuscinosis.
|
31588715 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.
|
30956123 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, the genetic spectrum of ATP13A2-associated disorders was expanded in the last years, because it has been found to underlay variants of neuronal ceroid-lipofuscinoses (NCLs) and hereditary spastic paraplegia.
|
31132336 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
Loss of function mutations in the P<sub>5</sub>-ATPase ATP13A2 are associated with Kufor-Rakeb Syndrome and Neuronal Ceroid Lipofuscinosis.
|
28595912 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
To determine if loss of one functional Atp13a2 allele can serve as a risk factor for disease, we have now assessed heterozygous Atp13a2 knockout mice for key features of NCL.
|
29859891 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in the gene ATP13A2 are associated with Kufor-Rakeb Syndrome and Neuronal Ceroid Lipofuscinosis, the former designated as an inherited form of Parkinson's disease (PD).
|
29407413 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Until now, fourteen mutations in ATP13A2 have been associated with KRS, while other mutations have been reported in association with neuronal ceroid lipofuscinosis (NCL) and early-onset PD.
|
26965689 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We also discuss another ATP13A2 mutation that is associated with the family of neurodegenerative disorders called neuronal ceroid lipofuscinoses (NCLs), and we propose a single pathway whereby ATP13A2 mutations may contribute to NCLs and Parkinsonism.
|
25197640 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.
|
23393156 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We present a family with typical NCL pathology in which we performed exome sequencing and identified a single homozygous mutation in ATP13A2 that fully segregates with disease within the family.
|
22388936 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
CTD_human |
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.
|
22847264 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To see if ATP13A2 mutations could be responsible for some cases of human adult-onset NCL (Kufs disease), we resequenced ATP13A2 from 28 Kufs disease patients.
|
21362476 |
2011 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
CTD_human |
A mutation analysis for 14 positional candidate genes in two NCL-cases and one control revealed a strongly associated single nucleotide polymorphism (SNP) in the MAPK PM20/PM21 gene and a perfectly with NCL associated single base pair deletion (c.1620delG) within exon 16 of the ATP13A2 gene.
|
22022275 |
2011 |