Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11222788http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To investigate the association between parkin gene mutations and parkinsonism in an Italian family in which three of 12 siblings born to first-degree consanguineous parents had early-onset parkinsonism.

Background

Several deleting or truncating mutations as well as missense mutations of the parkin gene were associated with early-onset parkinsonism.

Method

Three brothers were examined clinically at several stages of the disease. Single-strand conformational polymorphism analysis was done on the parkin gene of 32 members of the family. Samples showing mobility shifts were considered for mutation analysis.

Results

Direct DNA sequencing revealed a novel homozygous amino acid substitution, Arg42Pro, in all three patients compared with a control DNA sample. The mutation occurred in the ubiquitinlike domain at the N-terminal of the protein. The patients did not display the clinical hallmarks previously seen with parkin mutations and were indistinguishable from patients with sporadic PD.

Conclusions

These findings confirm the recessive character of parkin mutations causing early-onset parkinsonism and the essential role of the ubiquitinlike region, highly conserved among species, and in accordance with the proposed parkin function."xsd:string
http://purl.uniprot.org/citations/11222788http://purl.org/dc/terms/identifier"doi:10.1212/wnl.56.4.463"xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/author"Mariani C."xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/author"Calella A.M."xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/author"Forloni G."xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/author"Calabrese E."xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/author"Terreni L."xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/name"Neurology"xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/pages"463-466"xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/title"New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism."xsd:string
http://purl.uniprot.org/citations/11222788http://purl.uniprot.org/core/volume"56"xsd:string
http://purl.uniprot.org/citations/11222788http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11222788
http://purl.uniprot.org/citations/11222788http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11222788
http://purl.uniprot.org/uniprot/#_D3JZW5-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_D3K2X1-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_D3K2X2-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_A0A0S2Z446-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_A0A0S2Z447-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_A0A1W5XGD7-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_A0A1W5XGE1-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_A0A1W5XGE7-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_A1IGZ9-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
http://purl.uniprot.org/uniprot/#_B4DGN4-mappedCitation-11222788http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11222788
▶