Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability-Reference-Cited by-同舟云学术

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability

Published:2018-10-05 Issue:11 Volume:176 Page:2517-2521
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Blaesius Kathrin¹²³⁴^ORCID,Abbasi Ansar A.⁵,Tahir Tufail H.⁶,Tietze Anna⁷,Picker-Minh Sylvie¹²³⁴,Ali Ghazanfar⁸,Farooq Sundas⁵,Hu Hao⁹,Latif Zahid¹⁰,Khan Muhammad N.¹⁰,Kaindl Angela¹²³⁴

Affiliation:

1. Institute of Neuroanatomy and Cell Biology, Charité - Universitätsmedizin Berlin; Berlin Germany

2. Berlin Institute of Health (BIH); Berlin Germany

3. Department of Pediatric Neurology; Charité - Universitätsmedizin Berlin; Berlin Germany

4. Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin; Berlin Germany

5. Department of Zoology; Mirpur University of Science and Technology (MUST); Mirpur Pakistan

6. Poonch Medical College; Rawalakot Azad Kashmir Pakistan

7. Institute of Neuroradiology, Charité - Universitätsmedizin Berlin; Berlin Germany

8. Department of Biotechnology; University of Azad Jammu and Kashmir; Muzaffarabad Pakistan

9. Guangzhou Women and Children's Medical Center; Guangzhou China

10. Department of Zoology; University of Azad Jammu and Kashmir; Muzaffarabad Pakistan

Funder

Deutsche Forschungsgemeinschaft

Higher Education Commission Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38631/fullpdf

Reference13 articles.

1. Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders;Blanco;The EMBO Journal,2014

2. The RNA-methyltransferase Misu (NSun2) poises epidermal stem cells to differentiate;Blanco;PLoS Genetics,2011

3. The role of a novel TRMT1 gene mutation and rare GRM1 gene defect in intellectual disability in two Azeri families;Davarniya;PLoS One,2015

4. TRMT1-catalyzed tRNA modifications are required for redox homeostasis to ensure proper cellular proliferation and oxidative stress survival;Dewe;Molecular and Cellular Biology,2017

5. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation;Freude;American Journal of Human Genetics,2004

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