STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
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Title
STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Authors
Keywords
STUB1, CHIP, HSC70, E3-ubiquitin ligase, ARCA, Ataxia, Hypogonadism
Journal
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-09-25
DOI
10.1186/s13023-014-0146-0
References
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Related references
Note: Only part of the references are listed.- Autosomal recessive cerebellar ataxia of adult onset due to STUB1 Mutations
- (2014) C. Depondt et al. NEUROLOGY
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- (2014) Matthis Synofzik et al. Orphanet Journal of Rare Diseases
- Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP
- (2013) Chang-He Shi et al. HUMAN MOLECULAR GENETICS
- The Ubiquitin Ligase Stub1 Negatively Modulates Regulatory T Cell Suppressive Activity by Promoting Degradation of the Transcription Factor Foxp3
- (2013) Zuojia Chen et al. IMMUNITY
- Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
- (2013) David H. Margolin et al. NEW ENGLAND JOURNAL OF MEDICINE
- MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
- (2013) Kristoffer Haugarvoll et al. Orphanet Journal of Rare Diseases
- Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
- (2013) Yuting Shi et al. PLoS One
- Genetics of Parkinson disease and other movement disorders
- (2012) Kishore R. Kumar et al. CURRENT OPINION IN NEUROLOGY
- Haploinsufficiency of the E3 Ubiquitin Ligase C-Terminus of Heat Shock Cognate 70 Interacting Protein (CHIP) Produces Specific Behavioral Impairments
- (2012) BethAnn McLaughlin et al. PLoS One
- The role of ubiquitin–proteasome system in ageing
- (2011) Peter Löw GENERAL AND COMPARATIVE ENDOCRINOLOGY
- Molecular Mechanism of the Negative Regulation of Smad1/5 Protein by Carboxyl Terminus of Hsc70-interacting Protein (CHIP)
- (2011) Le Wang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Autosomal recessive cerebellar ataxias: the current state of affairs
- (2011) S. Vermeer et al. JOURNAL OF MEDICAL GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Disease-Associated Mutant Ubiquitin Causes Proteasomal Impairment and Enhances the Toxicity of Protein Aggregates
- (2009) Elizabeth M. H. Tank et al. PLoS Genetics
- CHIP Deficiency Decreases Longevity, with Accelerated Aging Phenotypes Accompanied by Altered Protein Quality Control
- (2008) J.-N. Min et al. MOLECULAR AND CELLULAR BIOLOGY
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