Person:
Kazerounian, Shideh

Profile Picture

Email Address

AA Acceptance Date

Birth Date

Research Projects

Organizational Units

Job Title

Last Name

Kazerounian

First Name

Shideh

Name

Kazerounian, Shideh

Filters

20162

Settings

Author's Publications: search.filters.isAuthorOfPublication.81d8371f-813d-4ce1-8e5b-d47f6e4a3b1c

Search Results

Now showing 1 - 2 of 2
  • Thumbnail Image
    Publication
    Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice
    (Ivyspring International Publisher, 2016) Kazerounian, Shideh; Ciarlini, Pedro D.S.C.; Yuan, Daniel; Ghazvinian, Roxanne; Alberich-Jorda, Meritxell; Joshi, Mugdha; Zhang, Hong; Beggs, Alan; Gazda, Hanna
    Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome associated with ribosomal protein (RP) gene mutations. Recent studies have also demonstrated an increased risk of cancer predisposition among DBA patients. In this study, we report the formation of soft tissue sarcoma in the Rpl5 and Rps24 heterozygous mice. Our observation suggests that even though one wild-type allele of the Rpl5 or Rps24 gene prevents anemia in these mice, it still predisposes them to cancer development.
  • Thumbnail Image
    Publication
    Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease
    (Cold Spring Harbor Laboratory Press, 2016) Joshi, Mugdha; Anselm, Irina; Shi, Jiahai; Bale, Tejus A.; Towne, Meghan; Schmitz-Abe, Klaus; Crowley, Laura; Giani, Felix C.; Kazerounian, Shideh; Markianos, Kyriacos; Lidov, Hart; Folkerth, Rebecca D.; Sankaran, Vijay; Agrawal, Pankaj
    We describe a large Lebanese family with two affected members, a young female proband and her male cousin, who had multisystem involvement including profound global developmental delay, severe hypotonia and weakness, respiratory insufficiency, blindness, and lactic acidemia—findings consistent with an underlying mitochondrial disorder. Whole-exome sequencing was performed on DNA from the proband and both parents. The proband and her cousin carried compound heterozygous mutations in the PMPCA gene that encodes for α-mitochondrial processing peptidase (α-MPP), a protein likely involved in the processing of mitochondrial proteins. The variants were located close to and postulated to affect the substrate binding glycine-rich loop of the α-MPP protein. Functional assays including immunofluorescence and western blot analysis on patient's fibroblasts revealed that these variants reduced α-MPP levels and impaired frataxin production and processing. We further determined that those defects could be rescued through the expression of exogenous wild-type PMPCA cDNA. Our findings link defective α-MPP protein to a severe mitochondrial disease.