Effects of mutations and deletions in the human optineurin gene

  title={Effects of mutations and deletions in the human optineurin gene},
  author={Sanja B Turturro and Xiang Shen and Rajalekshmy Shyam and Beatrice Yjt Yue and Hongyu Ying},
Optineurin is a gene associated with normal tension glaucoma (NTG) and amyotrophic lateral sclerosis (ALS). Foci formation and functional consequences including Golgi fragmentation, impairment of vesicle trafficking and apoptosis were observed previously upon overexpression and/or mutation of optineurin. In the current study, a total of 15 GFP tagged constructs that included NTG (E50K and 2 bp-AG insertion), ALS (exon 5 deletion, R96L, Q398X, and E478G) and non-disease (L157A and D474N… CONTINUE READING


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The majority of the genetic risk for Paget ’ s disease of bone is explained by genetic variants close to the CSF 1 , OPTN , TM 7 SF 4 , and TNFRSF 11 A genes

  • PY Chung, G Beyens, +12 authors W VanHul
  • Hum Genet
  • 2010
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