Polyglutamine spinocerebellar ataxias—from genes to potential treatments

HL Paulson, VG Shakkottai, HB Clark… - Nature Reviews …, 2017 - nature.com
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

The ubiquitin code

D Komander, M Rape - Annual review of biochemistry, 2012 - annualreviews.org
The posttranslational modification with ubiquitin, a process referred to as ubiquitylation,
controls almost every process in cells. Ubiquitin can be attached to substrate proteins as a …

Assembly and function of heterotypic ubiquitin chains in cell-cycle and protein quality control

RG Yau, K Doerner, ER Castellanos, DL Haakonsen… - Cell, 2017 - cell.com
Posttranslational modification with ubiquitin chains controls cell fate in all eukaryotes.
Depending on the connectivity between subunits, different ubiquitin chain types trigger …

Atypical ubiquitylation—the unexplored world of polyubiquitin beyond Lys48 and Lys63 linkages

Y Kulathu, D Komander - Nature reviews Molecular cell biology, 2012 - nature.com
Ubiquitylation is one of the most abundant and versatile post-translational modifications
(PTMs) in cells. Its versatility arises from the ability of ubiquitin to form eight structurally and …

Aggrephagy: selective disposal of protein aggregates by macroautophagy

T Lamark, T Johansen - International journal of cell biology, 2012 - Wiley Online Library
Protein aggregation is a continuous process in our cells. Some proteins aggregate in a
regulated manner required for different vital functional processes in the cells whereas other …

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) …

[HTML][HTML] Pathogenesis of SCA3 and implications for other polyglutamine diseases

HS McLoughlin, LR Moore, HL Paulson - Neurobiology of disease, 2020 - Elsevier
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine
(polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective …

Toward understanding Machado–Joseph disease

M do Carmo Costa, HL Paulson - Progress in neurobiology, 2012 - Elsevier
Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is
the most common inherited spinocerebellar ataxia and one of many polyglutamine …

Machado–Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy

CA Matos, LP de Almeida… - Journal of …, 2019 - Wiley Online Library
Abstract Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3
(SCA 3), is an incurable disorder, widely regarded as the most common form of …

Orphan quality control shapes network dynamics and gene expression

KG Mark, SDD Kolla, JD Aguirre, DM Garshott… - Cell, 2023 - cell.com
All eukaryotes require intricate protein networks to translate developmental signals into
accurate cell fate decisions. Mutations that disturb interactions between network …