ArticleJournal of molecular endocrinology2014
Identifying biological pathways that underlie primordial short stature using network analysis.
Article in Journal of molecular endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
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- Exploring Obscurin and SPEG Kinase Biology.Journal of clinical medicine · 2021Article
- E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions.International journal of molecular sciences · 2020Review
- The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease.International journal of molecular sciences · 2020Review
- Chemosensory Event-Related Potentials and Power Spectrum could be A Possible Biomarker in 3M Syndrome Infants?Brain sciences · 2020Article
- Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.The Journal of clinical investigation · 2019Article
- Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism.Communications biology · 2019Article
- Primary growth hormone insensitivity and psychomotor delay.Clinical case reports · 2018Article
- Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.Cell division · 2018Article
- The Influence of Metabolic Syndrome and Sex on the DNA Methylome in Schizophrenia.International journal of genomics · 2018Article
- Emerging Roles for Ciz1 in Cell Cycle Regulation and as a Driver of Tumorigenesis.Biomolecules · 2016Review
- The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis.Journal of virology · 2016Article
- Identification of a novel putative interaction partner of the nucleoporin ALADIN.Biology open · 2016Article
- The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development.Journal of dental research · 2016Review
- Inositol 1,4,5-trisphosphate receptors and their protein partners as signalling hubs.The Journal of physiology · 2016Review
- SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination.Scientific reports · 2016Article
- Article
- Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.Molecular cytogenetics · 2016Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in CUL7, OBSL1 and CCDC8, leading to disordered ubiquitination, cause one of the commonest primordial growth disorders, 3-M syndrome. This condition is associated with i) abnormal p53 function, ii) GH and/or IGF1 resistance, which may relate to failure to recycle signalling molecules, and iii) cellular IGF2 deficiency. However the exact molecular mechanisms that may link these abnormalities generating growth restriction remain undefined. In this study, we have used immunoprecipitation/mass spectrometry and transcriptomic studies to generate a 3-M 'interactome', to define key cellular pathways and biological functions associated with growth failure seen in 3-M. We identified 189 proteins which interacted with CUL7, OBSL1 and CCDC8, from which a network including 176 of these proteins was generated. To strengthen the association to 3-M syndrome, these proteins were compared with an inferred network generated from the genes that were differentially expressed in 3-M fibroblasts compared with controls. This resulted in a final 3-M network of 131 proteins, with the most significant biological pathway within the network being mRNA splicing/processing. We have shown using an exogenous insulin receptor (INSR) minigene system that alternative splicing of exon 11 is significantly changed in HEK293 cells with altered expression of CUL7, OBSL1 and CCDC8 and in 3-M fibroblasts. The net result is a reduction in the expression of the mitogenic INSR isoform in 3-M syndrome. From these preliminary data, we hypothesise that disordered ubiquitination could result in aberrant mRNA splicing in 3-M; however, further investigation is required to determine whether this contributes to growth failure.
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