Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
Publication Date
March 15, 2017
Authors
Joshi Stephen, Tadafumi Yokoyama, Nathanial J. Tolman, Kevin J. O’brien, et al
Volume
12
Issue
3
Pages
e0173682
DOI
https://dx.plos.org/10.1371/journal.pone.0173682
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0173682
Scopus
85015417136
Mendeley
http://www.mendeley.com/research/cellular-molecular-defects-patient-hermanskypudlak-syndrome-type-5-2
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Mendeley | Further Information

{"title"=>"Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5", "type"=>"journal", "authors"=>[{"first_name"=>"Joshi", "last_name"=>"Stephen", "scopus_author_id"=>"55808232600"}, {"first_name"=>"Tadafumi", "last_name"=>"Yokoyama", "scopus_author_id"=>"57201040877"}, {"first_name"=>"Nathanial J.", "last_name"=>"Tolman", "scopus_author_id"=>"57191579656"}, {"first_name"=>"Kevin J.", "last_name"=>"O'Brien", "scopus_author_id"=>"26436418200"}, {"first_name"=>"Elena Raluca", "last_name"=>"Nicoli", "scopus_author_id"=>"56685271300"}, {"first_name"=>"Brian P.", "last_name"=>"Brooks", "scopus_author_id"=>"26121014200"}, {"first_name"=>"Laryssa", "last_name"=>"Huryn", "scopus_author_id"=>"6504354411"}, {"first_name"=>"Steven A.", "last_name"=>"Titus", "scopus_author_id"=>"35304086100"}, {"first_name"=>"David R.", "last_name"=>"Adams", "scopus_author_id"=>"55729597500"}, {"first_name"=>"Dong", "last_name"=>"Chen", "scopus_author_id"=>"56953690900"}, {"first_name"=>"William A.", "last_name"=>"Gahl", "scopus_author_id"=>"55628579229"}, {"first_name"=>"Bernadette R.", "last_name"=>"Gochuico", "scopus_author_id"=>"6602363685"}, {"first_name"=>"May Christine V.", "last_name"=>"Malicdan", "scopus_author_id"=>"12042233100"}], "year"=>2017, "source"=>"PLoS ONE", "identifiers"=>{"doi"=>"10.1371/journal.pone.0173682", "sgr"=>"85015417136", "pui"=>"614792258", "scopus"=>"2-s2.0-85015417136", "issn"=>"19326203", "pmid"=>"28296950"}, "id"=>"1079e42d-f55b-3b24-8102-5cca03402e06", "abstract"=>"Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of lysosomal-related endosomal compartments. BLOC-2, for example, consists of the proteins HPS3, HPS5, and HPS6. Here we present an HPS patient with defective BLOC-2 due to a novel intronic mutation in HPS5 that activates a cryptic acceptor splice site. This mutation leads to the insertion of nine nucleotides in-frame and results in a reduced amount of HPS5 at the transcript and protein level. In studies using skin fibroblasts derived from the proband and two other individuals with HPS-5, we found a perinuclear distribution of acidified organelles in patient cells compared to controls. Our results suggest the role of HPS5 in the endo-lysosomal dynamics of skin fibroblasts.", "link"=>"http://www.mendeley.com/research/cellular-molecular-defects-patient-hermanskypudlak-syndrome-type-5-2", "reader_count"=>1, "reader_count_by_academic_status"=>{"Researcher"=>1}, "reader_count_by_user_role"=>{"Researcher"=>1}, "reader_count_by_subject_area"=>{"Agricultural and Biological Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}}, "group_count"=>0}

Scopus | Further Information

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