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Autosomal Dominant Sensory Ataxia

mutation in RNF170

Also Known As:

Ataxia, Sensory, Autosomal Dominant

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Autosomal Dominant Sensory Ataxia: 1
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Autosomal Dominant Sensory Ataxia: 1

Experts

1.	Dupré, Nicolas: 1 article (05/2015)
2.	Lu, Justine P: 1 article (05/2015)
3.	Rouleau, Guy A: 1 article (05/2015)
4.	Sliter, Danielle A: 1 article (05/2015)
5.	Wojcikiewicz, Richard J H: 1 article (05/2015)
6.	Wright, Forrest A: 1 article (05/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Dominant Sensory Ataxia:

1.	Inositol 1,4,5-Trisphosphate Receptors (Inositol Triphosphate Receptor)IBA 05/29/2015 - "A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling."
2.	UbiquitinIBA 05/29/2015 - "A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling." 05/29/2015 - "RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP3) receptors, and also, when point mutated (arginine to cysteine at position 199), causes autosomal dominant sensory ataxia (ADSA), a disease characterized by neurodegeneration in the posterior columns of the spinal cord. "
3.	Inositol 1,4,5-TrisphosphateIBA 05/29/2015 - "RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP3) receptors, and also, when point mutated (arginine to cysteine at position 199), causes autosomal dominant sensory ataxia (ADSA), a disease characterized by neurodegeneration in the posterior columns of the spinal cord. "
4.	Proteins (Proteins, Gene)FDA Link 05/29/2015 - "A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling."
5.	Ligases (Synthetase)IBA 05/29/2015 - "A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling." 05/29/2015 - "RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP3) receptors, and also, when point mutated (arginine to cysteine at position 199), causes autosomal dominant sensory ataxia (ADSA), a disease characterized by neurodegeneration in the posterior columns of the spinal cord. "
6.	Cysteine (L-Cysteine)FDA Link 05/29/2015 - "RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP3) receptors, and also, when point mutated (arginine to cysteine at position 199), causes autosomal dominant sensory ataxia (ADSA), a disease characterized by neurodegeneration in the posterior columns of the spinal cord. "
7.	Arginine (L-Arginine)FDA Link 05/29/2015 - "RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP3) receptors, and also, when point mutated (arginine to cysteine at position 199), causes autosomal dominant sensory ataxia (ADSA), a disease characterized by neurodegeneration in the posterior columns of the spinal cord. "