Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013 - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

Mechanisms and regulation of RNA condensation in RNP granule formation

D Tauber, G Tauber, R Parker - Trends in biochemical sciences, 2020 - cell.com
Ribonucleoprotein (RNP) granules are RNA–protein assemblies that are involved in
multiple aspects of RNA metabolism and are linked to memory, development, and disease …

Altered ribostasis: RNA-protein granules in degenerative disorders

M Ramaswami, JP Taylor, R Parker - Cell, 2013 - cell.com
The molecular processes that contribute to degenerative diseases are not well understood.
Recent observations suggest that some degenerative diseases are promoted by the …

Drosophila as an In Vivo Model for Human Neurodegenerative Disease

L McGurk, A Berson, NM Bonini - Genetics, 2015 - academic.oup.com
With the increase in the ageing population, neurodegenerative disease is devastating to
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …

Myotonic dystrophy

CA Thornton - Neurologic clinics, 2014 - neurologic.theclinics.com
A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …

An architectural role for a nuclear noncoding RNA: NEAT1 RNA is essential for the structure of paraspeckles

CM Clemson, JN Hutchinson, SA Sara, AW Ensminger… - Molecular cell, 2009 - cell.com
NEAT1 RNA, a highly abundant 4 kb ncRNA, is retained in nuclei in approximately 10 to 20
large foci that we show are completely coincident with paraspeckles, nuclear domains …

[HTML][HTML] Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms

G Meola, R Cardani - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2015 - Elsevier
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …

RNA toxicity in non‐coding repeat expansion disorders

B Swinnen, W Robberecht, L Van Den Bosch - The EMBO journal, 2020 - embopress.org
Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …

[图书][B] Myotonic dystrophy

P Harper - 2009 - books.google.com
Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest
inherited muscular dystrophy and has a profound effect on individuals who are diagnosed …

Comparative genomics and molecular dynamics of DNA repeats in eukaryotes

GF Richard, A Kerrest, B Dujon - Microbiology and molecular …, 2008 - Am Soc Microbiol
Repeated elements can be widely abundant in eukaryotic genomes, composing more than
50% of the human genome, for example. It is possible to classify repeated sequences into …