PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Since the discovery of the Parkin gene in the late 1990s, researchers in many countries have begun extensive research on this gene and found that in addition to AR-JP, the Parkin gene is associated with many diseases, including type 2 diabetes, leprosy, Alzheimer's, autism, and cancer.
|
31753025 |
2019 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
Biomarker
|
disease |
BEFREE |
Meanwhile, contrast media-induced mitophagy was abolished when silencing PINK1 or PARK2 (Parkin), indicating a dominant role of the PINK1-Parkin pathway in mitophagy.
|
31229841 |
2019 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the E3 ubiquitin ligase parkin (PARK2, also known as PRKN) and the protein kinase PINK1 (also known as PARK6) are linked to autosomal-recessive juvenile parkinsonism (AR-JP)<sup>1,2</sup>; at the cellular level, these mutations cause defects in mitophagy, the process that organizes the destruction of damaged mitochondria<sup>3,4</sup>.
|
29995846 |
2018 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
Biomarker
|
disease |
BEFREE |
Finally, we explored the role of PINK1/Parkin signaling in albumin-induced mitophagy by inhibiting mitophagy by knockdown of PARK2 (Parkin) level.
|
29494565 |
2018 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
Biomarker
|
disease |
BEFREE |
Parkin, an E3 ubiquitin ligase, was first identified as a gene implicated in autosomal recessive juvenile Parkinsonism, but several evidences indicate that Parkin is a tumor suppressor gene, involved in a variety of cancers.
|
29349575 |
2018 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the parkin gene (PRKN) are the most common cause of autosomal-recessive juvenile Parkinson's disease (PD).
|
29501959 |
2018 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
Biomarker
|
disease |
BEFREE |
The visualization of the PARK2 signaling complex represents a novel marker for this critical step in mitophagy and can be used to monitor mitophagy progression in PARK2 mutants and to uncover additional upstream factors required for PARK2-mediated mitophagy signaling.
|
27846363 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in the gene PARK2, which encodes the protein parkin, cause autosomal recessive juvenile parkinsonism, a neurodegenerative disease characterized by degeneration of the dopaminergic neurons localized in the substantia nigra pars compacta.
|
28335015 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Parkin is an E3 ubiquitin ligase whose mutations cause autosomal recessive juvenile Parkinson's disease (PD).
|
28254618 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD).
|
29166608 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive Juvenile Parkinsonism (AR-JP) is a chronic, progressive neurodegenerative disorder caused by mutation in the PARKIN gene, and invariably associated with dopaminergic (DAergic) neuronal loss and brain iron accumulation.
|
28284907 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive juvenile Parkinsonism (AR-JP) is caused by mutations in a number of PARK genes, in particular the genes encoding the E3 ubiquitin ligase Parkin (PARK2, also known as PRKN) and its upstream protein kinase PINK1 (also known as PARK6).
|
29160309 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin.
|
27534820 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It also revealed a 0.13-Mb deletion at 6q26 located in PARK2 gene, and the mutation of the gene is known to be related to autosomal recessive juvenile Parkinson disease.The parents chose termination of pregnancy (TOP).
|
27828868 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.
|
27206984 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We attempted to discover the putative causal variant in an Indian family with autosomal-recessive juvenile Parkinsonism (ARJP), tested negative for mutations in PARK2, PINK1 and DJ1.
|
26864383 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity.
|
26631732 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The homozygous variant, c.850G>C (p.G284R), in the parkin gene is possibly responsible for AR-JP in this pedigree.
|
27177722 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PARKIN Inactivation Links Parkinson's Disease to Melanoma.
|
26683220 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
|
25815004 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
|
26188007 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mitochondrial alterations by PARKIN in dopaminergic neurons using PARK2 patient-specific and PARK2 knockout isogenic iPSC lines.
|
25843045 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
|
25939424 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
Therapeutic
|
disease |
CTD_human |
A recurrent mutation in PARK2 is associated with familial lung cancer.
|
25640678 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The phosphoUb binding site on PARKIN comprises a conserved phosphate pocket and harbours residues mutated in patients with AR-JP.
|
26161729 |
2015 |