Two Novel Mutations inABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects-Reference-Cited by-同舟云学术

Two Novel Mutations inABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

Published:2013-10-02 Issue:12 Volume:34 Page:1672-1678
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chen Dong-Hui¹,Naydenov Alipi²,Blankman Jacqueline L.³,Mefford Heather C.⁴,Davis Marie¹,Sul Youngmee⁵,Barloon A. Samuel⁶,Bonkowski Emily¹,Wolff John⁵,Matsushita Mark⁵,Smith Corrine⁵,Cravatt Benjamin F.³,Mackie Ken⁷,Raskind Wendy H.⁵⁸⁹,Stella Nephi²,Bird Thomas D.¹⁵⁹

Affiliation:

1. Department of Neurology; University of Washington; Seattle Washington 98195

2. Department of Pharmacology; University of Washington; Seattle Washington 98195

3. The Skaggs Institute for Chemical Biology and Department of Chemical Physiology; The Scripps Research Institute; La Jolla California 92037

4. Department of Pediatrics; University of Washington; Seattle Washington 98195

5. Department of Medicine; University of Washington; Seattle Washington 98195

6. Northwest Hospital and Medical Center; Bellevue Washington 98004

7. Psychological and Brain Sciences; Indiana University; Bloomington Indiana 47405

8. Psychiatry and Behavioral Sciences; University of Washington; Seattle Washington 98195

9. The GRECC and MIRECC; Veterans Administration Puget Sound Veterans Health Care Center; Seattle Washington 98133

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22437/fullpdf

Reference24 articles.

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2. Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins;Anczuków;Hum Mutat,2008

3. ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC;Blankman;Proc Natl Acad Sci USA,2013

4. A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol;Blankman;Chem Biol,2007

5. NMD: RNA biology meets human genetic medicine;Bhuvanagiri;Biochem J.,2010

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