Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease-Reference-Cited by-同舟云学术

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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease

Published:2024-04 Issue: Volume:193 Page:106456
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Raposo Mafalda,Hübener-Schmid Jeannette,Tagett Rebecca,Ferreira Ana F.,Vieira Melo Ana Rosa,Vasconcelos João,Pires Paula,Kay Teresa,Garcia-Moreno Hector,Giunti Paola,Santana Magda M.,Pereira de Almeida Luis,Infante Jon,van de Warrenburg Bart P.,de Vries Jeroen J.,Faber Jennifer,Klockgether Thomas,Casadei Nicolas,Admard Jakob,Schöls Ludger,Riess Olaf,Costa Maria do Carmo,Lima Manuela

Funder

Fundo Regional para a Ciência e Tecnologia

Fundação para a Ciência e a Tecnologia

Publisher

Elsevier BV

Reference38 articles.

1. FastQC: A Quality Control Tool for High Throughput Sequence Data [Online];Andrews,2010

2. Comparative study of naturally occurring huntingtin fragments in Drosophila points to exon 1 as the most pathogenic species in Huntington’s disease;Barbaro;Hum. Mol. Genet.,2015

3. Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3);Bettencourt;Neurogenetics,2010

4. The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity;Burnett;Hum. Mol. Genet.,2003

5. Toward understanding Machado-Joseph disease;Costa;Prog. Neurobiol.,2012

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