A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders
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Summary
This work constructed a comprehensive atlas of disrupted E3 ligase genes in common and rare neurological diseases and found ~13% were mutated in a neurological disorder with 83 total genes representing 70 different types of neurological diseases.
- Type
- review
- Published
- 2018-02-14
- Cited by
- 153
- References
- 175
- Access
- Open access
- OpenAlex
- https://openalex.org/W2794270490
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:3328191
Keywords
Ubiquitin ligase, DNA ligase, Ubiquitin, Gene, Biology
References
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- Physics for clinicians: Fluid‐attenuated inversion recovery (FLAIR) and double inversion recovery (DIR) Imaging
- Deconstructing the synapse
- Distinct proteostasis circuits cooperate in nuclear and cytoplasmic protein quality control
- Impaired proteostasis in rare neurological diseases.
- Identification and characterization of novel double zinc fingers encoded by putative proteins in genome of white spot syndrome virus
- The Hunt for Degrons of the 26S Proteasome
- Decoding the PTM-switchboard of Notch
- Neurolastin, a dynamin family GTPase, translocates to mitochondria upon neuronal stress and alters mitochondrial morphology in vivo
- International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci
- The Ubiquitin-Editing Enzyme A20 Regulates Synapse Remodeling and Efficacy
- Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies
- How to Inactivate Human Ubiquitin E3 Ligases by Mutation
- De-ubiquitinases on the move: an emerging field in plant biology.
- Gene discovery and cellular modelling of rare autosomal recessive neurodevelopmental conditions
- Cracking the Monoubiquitin Code of Genetic Diseases
- Cdh1-APC Regulates Protein Synthesis and Stress Granules in Neurons through an FMRP-Dependent Mechanism
- The ubiquitin-proteasome pathway and resistance mechanisms developed against the proteasomal inhibitors in cancer cells.
- Specificity in Ubiquitination Triggered by Virus Infection
- Genes, the brain, and artificial intelligence in evolution
- Ubiquitin and Ubiquitin-Like Proteins in the Critical Equilibrium between Synapse Physiology and Intellectual Disability
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