Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021‏ - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Cellular functions of the protein kinase ATM and their relevance to human disease

JH Lee, TT Paull - Nature Reviews Molecular Cell Biology, 2021‏ - nature.com
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …

Polyglutamine repeats in neurodegenerative diseases

AP Lieberman, VG Shakkottai… - Annual Review of …, 2019‏ - annualreviews.org
Among the age-dependent protein aggregation disorders, nine neurodegenerative diseases
are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We …

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 …

ASK1 is essential for endoplasmic reticulum stress-induced neuronal cell death triggered by expanded polyglutamine repeats

H Nishitoh, A Matsuzawa, K Tobiume… - Genes & …, 2002‏ - genesdev.cshlp.org
Expansion of CAG trinucleotide repeats that encode polyglutamine is the underlying cause
of at least nine inherited human neurodegenerative disorders, including Huntington's …

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

L Schöls, P Bauer, T Schmidt, T Schulte… - The Lancet …, 2004‏ - thelancet.com
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …

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 …

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013‏ - Elsevier
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) …

Glutamine repeats and neurodegeneration

HY Zoghbi, HT Orr - Annual review of neuroscience, 2000‏ - annualreviews.org
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 …

Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology

CA Gutekunst, SH Li, H Yi, JS Mulroy… - Journal of …, 1999‏ - jneurosci.org
The data we report in this study concern the types, location, numbers, forms, and
composition of microscopic huntingtin aggregates in brain tissues from humans with different …