Associated Papers
ATP13A1 engages SEC61 to facilitate substrate-specific translocation.
Yang X et al.
Science Advances, 2025
Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.
McCarthy P et al.
British Journal of Haematology, 2022
Receptor compaction and GTPase rearrangement drive SRP-mediated cotranslational protein translocation into the ER.
Lee JH et al.
Science Advances, 2021
SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.
Schürch C et al.
Blood, 2021
Cellular Traffic Jam and Disease Due to Mutations in SRP54.
Weichenrieder O
Structure (london, England : 1993), 2021
Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.
Goldberg L et al.
Pediatric Blood & Cancer, 2020
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Saettini F et al.
British Journal of Haematology, 2020
Translational Control of Secretory Proteins in Health and Disease.
Karamyshev AL et al.
International Journal of Molecular Sciences, 2020
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R et al.
The Journal of Clinical Investigation, 2017
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