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      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

      case-report

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          Abstract

          A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.

          Abstract

          A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.

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          Most cited references15

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          The Wnt signaling pathway in development and disease.

          Catriona Logan, Roel Nusse (2004)
          Tight control of cell-cell communication is essential for the generation of a normally patterned embryo. A critical mediator of key cell-cell signaling events during embryogenesis is the highly conserved Wnt family of secreted proteins. Recent biochemical and genetic analyses have greatly enriched our understanding of how Wnts signal, and the list of canonical Wnt signaling components has exploded. The data reveal that multiple extracellular, cytoplasmic, and nuclear regulators intricately modulate Wnt signaling levels. In addition, receptor-ligand specificity and feedback loops help to determine Wnt signaling outputs. Wnts are required for adult tissue maintenance, and perturbations in Wnt signaling promote both human degenerative diseases and cancer. The next few years are likely to see novel therapeutic reagents aimed at controlling Wnt signaling in order to alleviate these conditions.
          Article 0 comments Cited 408 times – based on 0 reviews     Review now
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            Mechanisms of TGF-beta signaling from cell membrane to the nucleus.

            Yigong Shi, Joan Massagué (2003)
            TGF-beta signaling controls a plethora of cellular responses and figures prominently in animal development. Recent cellular, biochemical, and structural studies have revealed significant insight into the mechanisms of the activation of TGF-beta receptors through ligand binding, the activation of Smad proteins through phosphorylation, the transcriptional regulation of target gene expression, and the control of Smad protein activity and degradation. This article reviews these latest advances and presents our current understanding on the mechanisms of TGF-beta signaling from cell membrane to the nucleus.
            Article 0 comments Cited 231 times – based on 0 reviews     Review now
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              RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration.

              Lei Yang, Ryuta Ishimura, Satoru Senju … (2014)
              In higher eukaryotes, transfer RNAs (tRNAs) with the same anticodon are encoded by multiple nuclear genes, and little is known about how mutations in these genes affect translation and cellular homeostasis. Similarly, the surveillance systems that respond to such defects in higher eukaryotes are not clear. Here, we discover that loss of GTPBP2, a novel binding partner of the ribosome recycling protein Pelota, in mice with a mutation in a tRNA gene that is specifically expressed in the central nervous system causes ribosome stalling and widespread neurodegeneration. Our results not only define GTPBP2 as a ribosome rescue factor but also unmask the disease potential of mutations in nuclear-encoded tRNA genes. Copyright © 2014, American Association for the Advancement of Science.
              Article 0 comments Cited 188 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Elinaz Akbariazar:
                ORCID: https://orcid.org/0000-0001-8047-7156
                elinaz.akbari@yahoo.com
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 07 December 2020
                Publication date Collection: February 2021
                Volume: 9
                Issue: 2 ( doiID: 10.1002/ccr3.v9.2 )
                Pages: 732-736
                Affiliations
                [ 1 ] Cellular and Molecular Research Center Urmia University of Medical Sciences Urmia Iran
                [ 2 ] Department of Medical Genetics Urmia University of Medical Sciences Urmia Iran
                Author notes
                [*] [* ] Correspondence

                Elinaz Akbariazar, Department of Medical Genetics, Urmia University of Medical Sciences, Urmia, Iran.

                Email: elinaz.akbari@ 123456yahoo.com

                Author information
                https://orcid.org/0000-0002-3931-669X
                https://orcid.org/0000-0003-2647-1743
                https://orcid.org/0000-0001-8047-7156
                Article
                Publisher ID: CCR33637
                DOI: 10.1002/ccr3.3637
                PMC ID: 7869383
                PubMed ID: 33598235
                SO-VID: d12636f5-ed26-4b9e-82a6-d3e6a6cfffa2
                Copyright © © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                Date received : 29 November 2019
                Date revision received : 14 May 2020
                Date accepted : 23 November 2020
                Page count
                Figures: 4, Tables: 0, Pages: 5, Words: 2260
                Categories
                Subject: Case Report
                Subject: Case Reports
                Custom metadata
                source-schema-version-number 2.0
                cover-date February 2021
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:5.9.7 mode:remove_FC converted:08.02.2021

                Keywords: gtpbp2 gene,hypotrichosis,microcephaly,muscular dystrophy
                Data availability:
                Keywords: gtpbp2 gene, hypotrichosis, microcephaly, muscular dystrophy

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