Ontology highlight
ABSTRACT:
SUBMITTER: Wagner M
PROVIDER: S-EPMC7010976 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Wagner Matias M Skorobogatko Yuliya Y Pode-Shakked Ben B Powell Cynthia M CM Alhaddad Bader B Seibt Annette A Barel Ortal O Heimer Gali G Hoffmann Chen C Demmer Laurie A LA Perilla-Young Yezmin Y Remke Marc M Wieczorek Dagmar D Navaratnarajah Tharsini T Lichtner Peter P Klee Dirk D Shamseldin Hanan E HE Al Mutairi Fuad F Mayatepek Ertan E Strom Tim T Meitinger Thomas T Alkuraya Fowzan S FS Anikster Yair Y Saltiel Alan R AR Distelmaier Felix F
American journal of human genetics 20200130 2
Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indicating the relevance of this pathway to neuropediatric diseases. Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1) in four unrelated individuals with profound neur ...[more]