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Keywords: SCA7
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Journal Articles
In collection:
Neurodegenerative Disorders
Anna F. Fusco, Logan A. Pucci, Pawel M. Switonski, Debolina D. Biswas, Angela L. McCall, Amanda F. Kahn, Justin S. Dhindsa, Laura M. Strickland, Albert R. La Spada, Mai K. ElMallah
Journal:
Disease Models & Mechanisms
Dis Model Mech (2021) 14 (7): dmm048893.
Published: 20 July 2021
...Anna F. Fusco; Logan A. Pucci; Pawel M. Switonski; Debolina D. Biswas; Angela L. McCall; Amanda F. Kahn; Justin S. Dhindsa; Laura M. Strickland; Albert R. La Spada; Mai K. ElMallah ABSTRACT Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG...
Journal Articles
SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models
Open AccessIn collection:
Neurodegenerative Disorders
Martina Marinello, Andreas Werner, Mariagiovanna Giannone, Khadija Tahiri, Sandro Alves, Christelle Tesson, Wilfred den Dunnen, Jacob-S. Seeler, Alexis Brice, Annie Sittler
Journal:
Disease Models & Mechanisms
Dis Model Mech (2019) 12 (1): dmm036145.
Published: 11 January 2019
.... A hallmark of the neurodegenerative disease spinocerebellar ataxia type 7 (SCA7) is the intranuclear accumulation of mutant, misfolded ataxin-7 (polyQ-ATXN7). Here, we show that endogenous ATXN7 is modified by SUMO proteins, thus also suggesting a physiological role for this modification under conditions...
Includes: Supplementary data