Spinocerebellar ataxia
T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
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 …
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …
[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 …
(polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective …
[HTML][HTML] Classical non-homologous end-joining pathway utilizes nascent RNA for error-free double-strand break repair of transcribed genes
A Chakraborty, N Tapryal, T Venkova… - Nature …, 2016 - nature.com
DNA double-strand breaks (DSBs) leading to loss of nucleotides in the transcribed region
can be lethal. Classical non-homologous end-joining (C-NHEJ) is the dominant pathway for …
can be lethal. Classical non-homologous end-joining (C-NHEJ) is the dominant pathway for …
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 …
(SCA 3), is an incurable disorder, widely regarded as the most common form of …
[HTML][HTML] Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription
How huntingtin (HTT) triggers neurotoxicity in Huntington's disease (HD) remains unclear.
We report that HTT forms a transcription-coupled DNA repair (TCR) complex with RNA …
We report that HTT forms a transcription-coupled DNA repair (TCR) complex with RNA …
[HTML][HTML] Gene therapy for neurodegenerative diseases: slowing down the ticking clock
R Martier, P Konstantinova - Frontiers in Neuroscience, 2020 - frontiersin.org
Gene therapy is an emerging and powerful therapeutic tool to deliver functional genetic
material to cells in order to correct a defective gene. During the past decades, several …
material to cells in order to correct a defective gene. During the past decades, several …
The central role of DNA damage and repair in CAG repeat diseases
Diseases such as Huntington's disease and certain spinocerebellar ataxias are caused by
the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a …
the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a …
Base excision repair, a pathway regulated by posttranslational modifications
RJ Carter, JL Parsons - Molecular and cellular biology, 2016 - Taylor & Francis
Base excision repair (BER) is an essential DNA repair pathway involved in the maintenance
of genome stability and thus in the prevention of human diseases, such as premature aging …
of genome stability and thus in the prevention of human diseases, such as premature aging …
[PDF][PDF] Huntington Disease: mechanism of Pathogenesis and recent developments in its therapeutic strategies: a review
One of the leading causes of death apart from cancer is a neurodegenerative disease.
Huntington's disease (HD) is such that affects the neurons resulting from the programmed …
Huntington's disease (HD) is such that affects the neurons resulting from the programmed …