Trinucleotide repeat disorders

HT Orr, HY Zoghbi - Annu. Rev. Neurosci., 2007 - annualreviews.org
The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …

Three-dimensional genome architecture: players and mechanisms

A Pombo, N Dillon - Nature reviews Molecular cell biology, 2015 - nature.com
The different cell types of an organism share the same DNA, but during cell differentiation
their genomes undergo diverse structural and organizational changes that affect gene …

Heterochromatin drives compartmentalization of inverted and conventional nuclei

M Falk, Y Feodorova, N Naumova, M Imakaev… - Nature, 2019 - nature.com
The nucleus of mammalian cells displays a distinct spatial segregation of active euchromatic
and inactive heterochromatic regions of the genome,. In conventional nuclei, microscopy …

[HTML][HTML] LBR and lamin A/C sequentially tether peripheral heterochromatin and inversely regulate differentiation

I Solovei, AS Wang, K Thanisch, CS Schmidt, S Krebs… - Cell, 2013 - cell.com
Eukaryotic cells have a layer of heterochromatin at the nuclear periphery. To investigate
mechanisms regulating chromatin distribution, we analyzed heterochromatin organization in …

[HTML][HTML] Nuclear architecture of rod photoreceptor cells adapts to vision in mammalian evolution

I Solovei, M Kreysing, C Lanctôt, S Kösem, L Peichl… - Cell, 2009 - cell.com
We show that the nuclear architecture of rod photoreceptor cells differs fundamentally in
nocturnal and diurnal mammals. The rods of diurnal retinas possess the conventional …

Variable tandem repeats accelerate evolution of coding and regulatory sequences

R Gemayel, MD Vinces, M Legendre… - Annual review of …, 2010 - annualreviews.org
Genotype-to-phenotype map** commonly focuses on two major classes of mutations:
single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we …

Brain pathology of spinocerebellar ataxias

K Seidel, S Siswanto, ERP Brunt, W Den Dunnen… - Acta …, 2012 - Springer
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …

Distinct GCN5/PCAF-containing complexes function as co-activators and are involved in transcription factor and global histone acetylation

Z Nagy, L Tora - Oncogene, 2007 - nature.com
Transcription in eukaryotes is a tightly regulated, multistep process. Gene-specific
transcriptional activators, several different co-activators and general transcription factors are …

A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing

Y Zhao, G Lang, S Ito, J Bonnet, E Metzger… - Molecular cell, 2008 - cell.com
Transcriptional activators, several different coactivators, and general transcription factors are
necessary to access specific loci in the dense chromatin structure to allow precise initiation …

Polyglutamine neurodegeneration: protein misfolding revisited

AJ Williams, HL Paulson - Trends in neurosciences, 2008 - cell.com
Polyglutamine diseases are a major cause of neurodegeneration worldwide. Recent studies
highlight the importance of protein quality control mechanisms in regulating polyglutamine …