(Q35152809)

25378554

6 August 2017

title

L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome (English)

1 reference

RAD21 cohesin complex component a

6 August 2017

0 references

1 reference

NIPBL cohesin loading factor b

GOA release 2020-03-11

1 reference

NIPBL cohesin loading factor a

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Baoshan Xu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Nenja Sowa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Maria E Cardenas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jennifer L Gerton

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

language of work or name

1 reference

6 November 2014

1 reference

25378554

6 August 2017

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

1540-1555

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

8 June 2020

ImageQuant

object named as

ImageQuant TL

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way

1 reference

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Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts

28 July 2018

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Pdgfra protects against ethanol-induced craniofacial defects in a zebrafish model of FASD.

28 July 2018

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Regulation of FANCD2 by the mTOR pathway contributes to the resistance of cancer cells to DNA double-strand breaks

28 July 2018

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Maintenance of hematopoietic stem cells through regulation of Wnt and mTOR pathways

28 July 2018

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

RAD21 mutations cause a human cohesinopathy

28 July 2018

1 reference

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Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Cohesin mediates chromatin interactions that regulate mammalian β-globin expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Saccharomyces cerevisiae Bat1 and Bat2 aminotransferases have functionally diverged from the ancestral-like Kluyveromyces lactis orthologous enzyme

28 July 2018

1 reference

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Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Leucine and alpha-ketoisocaproic acid, but not norleucine, stimulate skeletal muscle protein synthesis in neonatal pigs

28 July 2018

1 reference

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Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome

28 July 2018

1 reference

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A primer for morpholino use in zebrafish.

28 July 2018

1 reference

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Bidirectional transport of amino acids regulates mTOR and autophagy

28 July 2018

1 reference

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Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes

28 July 2018

1 reference

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Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

28 July 2018

1 reference

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Impaired ribosome biogenesis in Diamond-Blackfan anemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Leucine regulates translation initiation of protein synthesis in skeletal muscle after exercise

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Signaling pathways and molecular mechanisms through which branched-chain amino acids mediate translational control of protein synthesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Anabolic signaling deficits underlie amino acid resistance of wasting, aging muscle

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

AKT activity determines sensitivity to mammalian target of rapamycin (mTOR) inhibitors by regulating cyclin D1 and c-myc expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Metabolic regulation by leucine of translation initiation through the mTOR-signaling pathway by pancreatic beta-cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Mitochondrial and cytosolic branched-chain amino acid transaminases from yeast, homologs of the myc oncogene-regulated Eca39 protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

RAD001 enhances the radiosensitivity of SCC4 oral cancer cells by inducing cell cycle arrest at the G2/M checkpoint.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Glutaminolysis activates Rag-mTORC1 signaling.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Leucyl-tRNA synthetase is an intracellular leucine sensor for the mTORC1-signaling pathway

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

MYC as a regulator of ribosome biogenesis and protein synthesis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Cohesin-dependent regulation of Runx genes

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

SMC3 knockdown triggers genomic instability and p53-dependent apoptosis in human and zebrafish cells

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Analysis of the cell cycle in zebrafish embryos.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Tissue-specific regulation of 4E-BP1 and S6K1 phosphorylation by alpha-ketoisocaproate

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351377

Amino acid effects on translational repressor 4E-BP1 are mediated primarily by L-leucine in isolated adipocytes

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25378554

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDU565

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

25378554

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25378554%20AND%20SRC:MED&resulttype=core&format=json