STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity-Reference-Cited by-同舟云学术

STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

Published:2014-09-26 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Heimdal Ketil,Sanchez-Guixé Monica,Aukrust Ingvild,Bollerslev Jens,Bruland Ove,Jablonski Greg Eigner,Erichsen Anne Kjersti,Gude Einar,Koht Jeanette A,Erdal Sigrid,Fiskerstrand Torunn,Haukanes Bjørn Ivar,Boman Helge,Bjørkhaug Lise,Tallaksen Chantal ME,Knappskog Per M,Johansson Stefan

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0146-0.pdf

Reference28 articles.

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3. Tank EM, True HL: Disease-associated mutant ubiquitin causes proteasomal impairment and enhances the toxicity of protein aggregates. PLoS Genet. 2009, 5: e1000382-10.1371/journal.pgen.1000382.

4. Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T: Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet. 2000, 25: 302-305. 10.1038/77060.

5. Shi CH, Schisler JC, Rubel CE, Tan S, Song B, McDonough H, Xu L, Portbury AL, Mao CY, True C, Wang RH, Wang QZ, Sun SL, Seminara SB, Patterson C, Xu YM: Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet. 2014, 23: 1013-1024. 10.1093/hmg/ddt497.

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