Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Stimulation of mTORC1 with L-leucine Rescues Defects Associated with Roberts Syndrome

3 Oct 2013

Abstract excerpt

Roberts syndrome (RBS) is a human disease characterized by defects in limb and craniofacial development and growth and mental retardation. RBS is caused by mutations in ESCO2, a gene which encodes an acetyltransferase for the cohesin complex. While the essential role of the cohesin complex in chromosome segregation has been well characterized, it plays additional roles in DNA damage repair, chromosome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital limb and hand anomalies
Share to Genetic factors in colorectal cancer
Share to Genomics and Chromatin Dynamics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24098154
DOI: 10.1371/journal.pgen.1003857

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Stimulation of mTORC1 with L-leucine Rescues Defects Associated with Roberts SyndromePMID 24098154Read ↗

Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome.Semantic proximity Read ↗

L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.Semantic proximity Read ↗

Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells.Semantic proximity Read ↗

Translational mechanisms at work in the cohesinopathies.Semantic proximity Read ↗

Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome.Semantic proximity Read ↗

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.Semantic proximity Read ↗

Ribosomopathy-associated mutations cause proteotoxic stress that is alleviated by TOR inhibition.Semantic proximity Read ↗

Cohesin mediates Esco2-dependent transcriptional regulation in zebrafish regenerating fin model of Roberts syndromeSemantic proximity Read ↗

Farnesyltransferase inhibitors reverse altered growth and distribution of actin filaments in Tsc-deficient cells via inhibition of both rapamycin-sensitive and -insensitive pathways.Semantic proximity Read ↗

mTOR is essential for growth and proliferation in early mouse embryos and embryonic stem cells.Semantic proximity Read ↗

Cohesion promotes nucleolar structure and function.Semantic proximity Read ↗

S6K1(-/-)/S6K2(-/-) mice exhibit perinatal lethality and rapamycin-sensitive 5'-terminal oligopyrimidine mRNA translation and reveal a mitogen-activated protein kinase-dependent S6 kinase pathway.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.