Condition: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE


rs1554391082 in PODXL gene and PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PMID 26864383 2016 Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism.

rs137853054 in PRKN gene and PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 18211709 2008 Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

PMID 25877876 2015 Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma.

PMID 16227559 2005 Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.

PMID 19205068 2009 Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.

PMID 18519021 2008 Parkin analysis in early onset Parkinson's disease.

PMID 20889974 2010 Parkin mono-ubiquitinates Bcl-2 and regulates autophagy.

PMID 12764050 2003 Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

PMID 12629236 2003 Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.

PMID 12925569 2003 The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI.

PMID 18973255 2009 Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.

PMID 23275044 2013 Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.

PMID 16476817 2006 Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

PMID 20889486 2011 Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.

PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

PMID 20404107 2010 PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.

PMID 19801972 2009 Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.

PMID 24167364 2013 Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.

PMID 26274610 2015 Parkinson's Disease in Saudi Patients: A Genetic Study.

PMID 12397156 2002 Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.

PMID 17360614 2007 Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease.

PMID 12056932 2002 Molecular findings in familial Parkinson disease in Spain.

PMID 11179010 2001 Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.

PMID 11487568 2001 The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

PMID 11163284 2001 A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

PMID 11971093 2002 Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.

PMID 15584030 2005 Novel parkin mutations detected in patients with early-onset Parkinson's disease.

PMID 12362318 2002 [A new point mutation on exon 2 of parkin gene in Parkinson's disease].

PMID 10939576 2000 Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.

PMID 11590439 2001 Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.

PMID 10824074 2000 Association between early-onset Parkinson's disease and mutations in the parkin gene.

PMID 9560156 1998 Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.

PMID 23770917 2013 A molecular explanation for the recessive nature of parkin-linked Parkinson's disease.

PMID 27534820 2016 Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin.

PMID 16643317 2006 Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.

PMID 21694720 2011 Autoregulation of Parkin activity through its ubiquitin-like domain.

PMID 21348451 2011 Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain.

PMID 15606901 2005 Pathogenic mutations inactivate parkin by distinct mechanisms.

PMID 24647965 2014 Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity.

PMID 19636047 2009 Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

PMID 26631732 2016 Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity.

PMID 22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

PMID 10072423 1999 A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

PMID 16049031 2005 Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

PMID 23751051 2013 The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons.

PMID 15090472 2004 Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism.

PMID 16339143 2006 Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro.

PMID 23818421 2013 Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.

PMID 18486522 2009 Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia.

PMID 21996382 2012 Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.

PMID 20798600 2010 The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations.

PMID 20604804 2010 p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria.

PMID 25939424 2015 Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.

PMID 15970950 2005 PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

PMID 12891670 2003 How much phenotypic variation can be attributed to parkin genotype?

PMID 25815004 2015 Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

PMID 26188007 2015 Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.

PMID 14519684 2003 RING finger 1 mutations in Parkin produce altered localization of the protein.

PMID 15390068 2004 Distribution, type, and origin of Parkin mutations: review and case studies.

PMID 17766365 2008 Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

PMID 24831986 2014 Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China.

PMID 11558785 2001 Lewy bodies and parkinsonism in families with parkin mutations.

PMID 25907632 2015 The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.

PMID 20558392 2010 Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.

PMID 26683220 2016 PARKIN Inactivation Links Parkinson's Disease to Melanoma.

PMID 27206984 2016 The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.

PMID 22777964 2012 High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease.

PMID 17095157 2006 Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2.

PMID 16769863 2006 Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.