Translational mechanisms at work in the cohesinopathies

RAD21 Mutations Cause a Human Cohesinopathy

(2012) Matthew A. Deardorff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) P. Jaako et al.   BLOOD

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

(2012) E. M. Payne et al.   BLOOD

Leucyl-tRNA Synthetase Is an Intracellular Leucine Sensor for the mTORC1-Signaling Pathway

(2012) Jung Min Han et al.   CELL

Leucyl-tRNA Synthetase Controls TORC1 via the EGO Complex

(2012) Grégory Bonfils et al.   MOLECULAR CELL

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

(2012) Matthew A. Deardorff et al.   NATURE

Specialized ribosomes: a new frontier in gene regulation and organismal biology

(2012) Shifeng Xue et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Role of CCCTC binding factor (CTCF) and cohesin in the generation of single-cell diversity of Protocadherin-  gene expression

(2012) K. Monahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cohesin Proteins Promote Ribosomal RNA Production and Protein Translation in Yeast and Human Cells

(2012) Tania Bose et al.   PLoS Genetics

Ribosome-Mediated Specificity in Hox mRNA Translation and Vertebrate Tissue Patterning

(2011) Nadya Kondrashov et al.   CELL

The cancerous translation apparatus

(2011) Craig R Stumpf et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

rRNA Pseudouridylation Defects Affect Ribosomal Ligand Binding and Translational Fidelity from Yeast to Human Cells

(2011) Karen Jack et al.   MOLECULAR CELL

Genomic binding of Pol III transcription machinery and relationship with TFIIS transcription factor distribution in mouse embryonic stem cells

(2011) Lucie Carrière et al.   NUCLEIC ACIDS RESEARCH

A Zebrafish Model of Roberts Syndrome Reveals That Esco2 Depletion Interferes with Development by Disrupting the Cell Cycle

(2011) Maren Mönnich et al.   PLoS One

Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome

(2011) Akihiko Muto et al.   PLOS BIOLOGY

Regulators of the Cohesin Network

(2010) Bo Xiong et al.   Annual Review of Biochemistry

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

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

(2010) Jenny M. Rhodes et al.   DEVELOPMENTAL BIOLOGY

The Nucleolus under Stress

(2010) Séverine Boulon et al.   MOLECULAR CELL

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

RPS25 is essential for translation initiation by the Dicistroviridae and hepatitis C viral IRESs

(2009) D. M. Landry et al.   GENES & DEVELOPMENT

Cohesinopathy mutations disrupt the subnuclear organization of chromatin

(2009) Scarlett Gard et al.   JOURNAL OF CELL BIOLOGY

IRESite—a tool for the examination of viral and cellular internal ribosome entry sites

(2009) Martin Mokrejš et al.   NUCLEIC ACIDS RESEARCH

The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2

(2009) Petra van der Lelij et al.   PLoS One

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

(2009) S. E. Calvo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

(2009) Jinglan Liu et al.   PLOS BIOLOGY

Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl+/− Mouse, a Model of Cornelia de Lange Syndrome

(2009) Shimako Kawauchi et al.   PLoS Genetics

Cohesin and Human Disease

(2008) Jinglan Liu et al.   Annual Review of Genomics and Human Genetics

Identification of cis-acting sites for condensin loading onto budding yeast chromosomes

(2008) C. D'Ambrosio et al.   GENES & DEVELOPMENT

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

(2008) Miriam Gordillo et al.   HUMAN MOLECULAR GENETICS