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The ataxin-1 interactome reveals direct connection with multiple disrupted nuclear transport pathways
Patients with spinocerebellar ataxia type 1 express ataxin-1 with an extended polyglutamine (polyQ) tract that forms distinctive nuclear bodies. Here, the authors characterize the cellular pathways affected by polyQ-ataxin-1, showing that it disrupts multiple nuclear transport processes.
- Sunyuan Zhang
- , Nicholas A. Williamson
- & Marie A. Bogoyevitch
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TMEM16K is an interorganelle regulator of endosomal sorting
The endolysosomal pathway plays an important role in regulating protein and lipid sorting and degradation. Here, the authors show that TMEM16K, an endoplasmic reticulum lipid scramblase, forms ER-endosome contact sites where it regulates endosomal sorting.
- Maja Petkovic
- , Juan Oses-Prieto
- & Yuh Nung Jan
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Cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of spinocerebellar ataxias type 17
It is not yet clear how ubiquitously-expressed proteins can cause the selective degeneration of particular populations of neurons, such as in spinocerebellar ataxia type 17, SCA17, which results from a CAG trinucleotide repeat expansion in the ubiquitously expressed transcription factor TBP. Here, the authors show that mutant TBP suppresses the cerebellum-enriched transcription of Inpp5a and link altered levels of INPP5A to the selective degeneration of cerebellar neurons.
- Qiong Liu
- , Shanshan Huang
- & Shihua Li
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Article
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Disturbances in IP3 receptor-mediated release of Ca2+ from the endoplasmatic reticulum are associated with neurodegenerative disease. Here, the authors identify in four families with hereditary spastic paraplegia biallelic mutations in RNF170 that associate with increased basal levels of IP3 receptors.
- Matias Wagner
- , Daniel P. S. Osborn
- & Rebecca Schüle
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Article
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Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration
Spinocerebellar ataxia type 2 (SCA2) is caused by polyglutamine repeats in the ATXN2 protein. Here the authors demonstrate that Staufen1, known to be an RNA-binding protein, interacts with ATXN2 and contributes to pathology in a mouse model of SCA2.
- Sharan Paul
- , Warunee Dansithong
- & Stefan M. Pulst
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Article
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Elongator mutation in mice induces neurodegeneration and ataxia-like behavior
Elp6 is a component of the Elongator complex that regulates tRNAs and translation. Here the authors identify a mutation in the Elp6 gene that contributes to the cerebellar ataxia-like phenotype in a mutant mouse.
- Marija Kojic
- , Monika Gaik
- & Brandon J. Wainwright
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Developmental YAPdeltaC determines adult pathology in a model of spinocerebellar ataxia type 1
Ataxin-1, linked to spinocerebellar ataxia type 1, is known to interact with the orphan nuclear receptor RORα. Here, Fujita and colleagues show that genetic supplementation of RORα-interacting protein YAPdeltaC during early development can rescue the adult pathologies of SCA1 mouse model.
- Kyota Fujita
- , Ying Mao
- & Hitoshi Okazawa
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Design of a bioactive small molecule that targets r(AUUCU) repeats in spinocerebellar ataxia 10
Expanded RNA repeats in non-coding region of a gene represent a hallmark of several diseases. Here, the authors identify two small molecules that selectively bind AU repeats and use them to design a compound that targets the pathogenic RNA associated with spinocerebellar ataxia type 10.
- Wang-Yong Yang
- , Rui Gao
- & Matthew D. Disney
Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia