On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
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 …
The long non-coding RNAs in neurodegenerative diseases: novel mechanisms of pathogenesis
Background: Long-non-coding RNAs (lncRNAs), RNA molecules longer than 200
nucleotides, have been involved in several biological processes and in a growing number of …
nucleotides, have been involved in several biological processes and in a growing number of …
Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration
Polyglutamine (polyQ) diseases are a group of inherited neurodegenerative disorders
caused by expanded cytosine-adenine-guanine (CAG) repeats encoding proteins with …
caused by expanded cytosine-adenine-guanine (CAG) repeats encoding proteins with …
Trinucleotide repeat disorders
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 …
disorders has changed the landscape of disease-oriented research for several forms of …
Glutamine repeats and neurodegeneration
A growing number of neurodegenerative diseases have been found to result from the
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …
Brain pathology of spinocerebellar ataxias
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …
[HTML][HTML] Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice
Transgenic mice carrying the spinocerebellar ataxia type 1 (SCA1) gene, a polyglutamine
neurodegenerative disorder, develop ataxia with ataxin-1 localized to aggregates within …
neurodegenerative disorder, develop ataxia with ataxin-1 localized to aggregates within …
A census of glutamine/asparagine-rich regions: implications for their conserved function and the prediction of novel prions
MD Michelitsch, JS Weissman - Proceedings of the …, 2000 - National Acad Sciences
Glutamine/asparagine (Q/N)-rich domains have a high propensity to form self-propagating
amyloid fibrils. This phenomenon underlies both prion-based inheritance in yeast and …
amyloid fibrils. This phenomenon underlies both prion-based inheritance in yeast and …