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Comment
. 2019 Feb 14;15(2):e1007870.
doi: 10.1371/journal.pgen.1007870. eCollection 2019 Feb.

Emerging RAS superfamily conditions involving GTPase function

Joseph T C Shieh  1
Affiliations
Comment

Emerging RAS superfamily conditions involving GTPase function

Joseph T C Shieh. PLoS Genet. .
No abstract available

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Flowchart.
From bedside to bench and back with RAS-superfamily genes RALA and ARF1.
Fig 2
Fig 2. The Ras-superfamily member RALA.
Residues of the GTPase site are shown in blue color and population variants in tan color using JSmol (credit: Jiyoo Chang).
See this image and copyright information in PMC

Comment on

References

    1. Scolnick EM, Papageorge AG, Shih TY (1979) Guanine nucleotide-binding activity as an assay for src protein of rat-derived murine sarcoma viruses. Proc Natl Acad Sci U S A 76:5355–5359. - PMC - PubMed
    1. Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, et al. (2013) Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet 93:173–180. 10.1016/j.ajhg.2013.05.021 - DOI - PMC - PubMed
    1. Rousseau-Merck MF, Bernheim A, Chardin P, Miglierina R, Tavitian A, Berger R (1988) The ras-related ral gene maps to chromosome 7p15-22. Hum Genet 79:132–136. - PubMed
    1. Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, et al. (2018) De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genet 14(11): e1007671 10.1371/journal.pgen.1007671 - DOI - PMC - PubMed
    1. Sobreira N, Schiettecatte F, Valle D, Hamosh A (2015) GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 36:928–930. 10.1002/humu.22844 - DOI - PMC - PubMed

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