Last Updated on Apr 06, 2017

Latest Publications and Research on Spinocerebellar Ataxia

Stem Cell Res    

Corrigendum to "Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3" [Stem Cell Research Vol 40 (2019) 101555].

He L, Ye W, Chen Z, Wang C, Zhao H, Li S, Peng L, Han X, Zhou T, Li Z, Tang B, Jiang H

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Source: PubMed

Sci Rep    

Nuclear bodies formed by polyQ-ataxin-1 protein are liquid RNA/protein droplets with tunable dynamics.

Zhang S, Hinde E, Parkyn Schneider M, Jans DA, Bogoyevitch MA

A mutant form of the ataxin-1 protein with an expanded polyglutamine (polyQ) tract is the underlying cause of the inherited neurodegenerative disease ... Read More

Source: PubMed

Cerebellum  2020 Jan 30  

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.

Homa M, Loyens A, Eddarkaoui S, Faivre E, Deramecourt V, Maurage CA, Buée L, Huin V, Sablonnière B

A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative ... Read More

Source: PubMed

PLoS Genet.    

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.

Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyöstilä K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL

A form of hereditary cerebellar ataxia has recently been described in the Norwegian Buhund dog breed. This study aimed to identify the genetic cause o... Read More

Source: PubMed

J. Med. Chem.  2020 Jan 30  

Congenetic hybrids derived from dearomatized isoprenylated acylphloroglucinol with opposite effects on Cav3.1 low voltage-gated Ca2+ channel.

Ye YS, Li WY, Du SZ, Yang J, Nian Y, Xu G

A hybrid of dearomatized isoprenylated acylphloroglucinol (DIAP) and monoterpenoid, hypatone A (1), together with its biosynthetic analogues 2-4, are ... Read More

Source: PubMed

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