No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population
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{"title"=>"No evidence for pathogenic role of UBQLN2 mutations in sporadic amyotrophic lateral sclerosis in the mainland Chinese population", "type"=>"journal", "authors"=>[{"first_name"=>"Xiao", "last_name"=>"Huang", "scopus_author_id"=>"57193127953"}, {"first_name"=>"Shen", "last_name"=>"Shen", "scopus_author_id"=>"57193120911"}, {"first_name"=>"Dongsheng", "last_name"=>"Fan", "scopus_author_id"=>"7202965513"}], "year"=>2017, "source"=>"PLoS ONE", "identifiers"=>{"doi"=>"10.1371/journal.pone.0170943", "pui"=>"614218586", "scopus"=>"2-s2.0-85010952096", "issn"=>"19326203", "pmid"=>"28125704", "sgr"=>"85010952096"}, "id"=>"a859e15b-85c2-39df-806c-b2f5573d3ec5", "abstract"=>"Mutations in the UBQLN2 gene, which encodes a member of the ubiquitin-like protein family (ubiquilin-2), have been identified in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS with frontotemporal dementia (FTD). We analyzed mutations in the UBQLN2 gene in a Chinese cohort of 515 patients with sporadic ALS (sALS). A novel missense mutation (p.M392V) was detected in one sALS patient. The p.M392V mutation substitutes a highly conserved residue, has not been reported in the population databases, and previously, at the same residue, a missense mutation p.M392I was detected in two Turkey ALS patients and was considered to be pathogenic, so the M392V is a variant of uncertain significance (VOUS) for ALS. We also found a deletion mutation (p.P500_G502del), which seems to be benign. In conclusion, our data suggest that mutations in the UBQLN2 gene are rare in Chinese sALS patients.", "link"=>"http://www.mendeley.com/research/evidence-pathogenic-role-ubqln2-mutations-sporadic-amyotrophic-lateral-sclerosis-mainland-chinese-po", "reader_count"=>5, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Student > Doctoral Student"=>1, "Researcher"=>1, "Student > Postgraduate"=>1, "Student > Master"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Student > Doctoral Student"=>1, "Researcher"=>1, "Student > Postgraduate"=>1, "Student > Master"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Medicine and Dentistry"=>2, "Agricultural and Biological Sciences"=>1, "Decision Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Decision Sciences"=>{"Decision Sciences"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}, "Unspecified"=>{"Unspecified"=>1}}, "group_count"=>0}

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