30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …
which are polymorphic by nature and become highly unstable in a length-dependent …
Repeat expansion diseases
H Paulson - Handbook of clinical neurology, 2018 - Elsevier
More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …
expansions of simple sequence repeats dispersed throughout the human genome …
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …
A census of human RNA-binding proteins
Post-transcriptional gene regulation (PTGR) concerns processes involved in the maturation,
transport, stability and translation of coding and non-coding RNAs. RNA-binding proteins …
transport, stability and translation of coding and non-coding RNAs. RNA-binding proteins …
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …
human neurological disease. They have an established role in more than 40 different …
Spinocerebellar ataxia: an update
R Sullivan, WY Yau, E O'Connor, H Houlden - Journal of neurology, 2019 - Springer
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders
Y Tian, JL Wang, W Huang, S Zeng, B Jiao, Z Liu… - The American Journal of …, 2019 - cell.com
Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative
disease characterized by eosinophilic intranuclear inclusions in the nervous system and …
disease characterized by eosinophilic intranuclear inclusions in the nervous system and …
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
I Stevanovski, SR Chintalaphani, H Gamaarachchi… - Science …, 2022 - science.org
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat
(STR) expansions, with 37 different genes implicated to date. We describe the use of …
(STR) expansions, with 37 different genes implicated to date. We describe the use of …
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
L Mangiarini, K Sathasivam, M Seller, B Cozens… - Cell, 1996 - cell.com
Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders
caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are …
caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are …