Associated Papers
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.
Cario H et al.
British Journal of Haematology, 2024
Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase.
Pérez-Juárez J et al.
Biomolecules, 2022
Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics.
Delre P et al.
Journal of Biomolecular Structure & Dynamics, 2020
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S et al.
Blood, 2019
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan QK et al.
Cold Spring Harbor Molecular Case Studies, 2018
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
Stepensky P et al.
Journal of Medical Genetics, 2017
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