|
KUFOR-RAKEB SYNDROME
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
The P-type ATPase ATP13A2 protein was originally associated with a form of Parkinson's Disease (PD) known as Kufor Rakeb Syndrome (KRS).
|
29169913 |
2018 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PHD2 inhibition was found to result in increased expression of ATP13A2, mutation of which is responsible for a rare juvenile form of PD known as Kufor-Rakeb syndrome.
|
26818499 |
2016 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The observation that the mutant transcript is not degraded by nonsense-mediated RNA decay and the fact that none of the eight heterozygous carriers from the family have KRS symptoms suggest that the mutant protein does not interfere and destroy the function of the wild-type ATP13A2 protein.
|
21696388 |
2012 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We here expand the phenotypic spectrum associated with genetic variants in ATP13A2 that previously comprised Kufor-Rakeb syndrome, spastic paraplegia 78, and neuronal ceroid lipofuscinosis type 12 (CLN12), to also include juvenile-onset ALS, as supported by both genetic and functional data.
|
30992063 |
2019 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.
|
21060012 |
2010 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
Biomarker
|
disease |
CTD_human |
KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resulting in a loss-of-function.
|
22768177 |
2012 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resulting in a loss-of-function.
|
22768177 |
2012 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Here, we describe loss-of-function mutations in a previously uncharacterized, predominantly neuronal P-type ATPase gene, ATP13A2, underlying an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia (PARK9, Kufor-Rakeb syndrome).
|
16964263 |
2006 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
ATP13A2 is a lysosomal P-type transport ATPase that has been implicated in Kufor-Rakeb syndrome and Parkinson's disease (PD), providing protection against α-synuclein, Mn(2+), and Zn(2+) toxicity in various model systems.
|
26134396 |
2015 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
|
20853184 |
2011 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
Biomarker
|
disease |
CTD_human |
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.
|
22847264 |
2012 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The association between idiopathic Parkinson's disease (PD) and the ATP13A2 (PARK9) Ala746Thr variant, associated with Kufor-Rakeb syndrome, is controversial.
|
23522931 |
2013 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Because several other parkinsonism-associated proteins have been connected to mitochondrial function and mitophagy, we studied the impact of endogenous mutations in ATPase type 13A2 (ATP13A2) on mitochondria in fibroblasts from KRS patients compared with controls.
|
22296644 |
2012 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we report that loss of ATP13A2 in human fibroblasts from patients with Kufor-Rakeb syndrome or in mouse primary neurons leads to impaired lysosomal degradation capacity.
|
22442086 |
2012 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
Biomarker
|
disease |
CTD_human |
ATP13A2 mutations have been described in familial Parkinson syndrome (PARK9).
|
22022275 |
2011 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Cardiovascular parameters and scoring systems in the evaluation of response to therapy in sepsis and septic shock.
|
2276817 |
1991 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
|
21665991 |
2011 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to evaluate apoptosis in cells from two KRS siblings carrying a homozygous ATP13A2 mutation and a heterozygous FBXO7 mutation.
|
22117566 |
2012 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ATP13A2 (PARK9) mutations are related to Kufor-Rakeb syndrome (KRS).
|
20227461 |
2010 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
|
27165006 |
2016 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP13A2 (PARK9) gene cause early-onset, autosomal recessive Parkinson's disease (PD) and Kufor-Rakeb syndrome.
|
25461191 |
2015 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Recessively inherited mutations in ATP13A2 result in Kufor-Rakeb syndrome (KRS), whereas genetic variability and elevated ATP13A2 expression have been implicated in Parkinson disease (PD).
|
19085912 |
2009 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP13A2 (PARK9), encoding a lysosomal P-type ATPase, are associated with both Kufor-Rakeb syndrome (KRS) and neuronal ceroid lipofuscinosis (NCL).
|
23393156 |
2013 |
|
KUFOR-RAKEB SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Further, mutations in the ATP13A2 gene have been linked to Kufor-Rakeb syndrome (PARK9), a form of atypical parkinsonism.
|
17620882 |
2007 |