Gene Mutation.png
new blue_edited.jpg

UBA5 GENE MUTATION

A LIFE THREATENING PROGRESSIVE NEUROLOGICAL DISORDER

The Ubiquitin-like modifier-activity enzyme 5 (UBA5) gene contains instructions for the UBA5 protein which is critical to cellular breakdown and function.
 

Mutations in the UBA5 gene can result in protein malfunction and even disease.

Diseases associated UBA5 include Spinocerebellar Ataxia and Early-Onset Epileptic Encephalopathy.

HERE ARE SOME OF THE WAYS UBA5 DISEASE PRESENTS IN RAIDEN 

Hypotonia (Floppiness)

Spasticity (Stiffness)

Movement Disorder 

smoke1.png

COMMON FINDINGS

UBA5

There have only been less than 30 genetically diagnosed and reported UBA5 disease cases in the world. Source: Cold Spring Harbor Molecular Case Studies. 2021.

Motor Control Issues

Hypotonia (Floppiness), 84%

Spasticity (Stiffness), 68%

Movement Disorder, 79%

Cognitive Issues

Seizures, 84%

Intellectual Disability, 95%

Brain Abnormalities, 100%

Growth Issues

Microcephaly (Poor Head Growth), 89%

Failure to Thrive, 74%

Laboratory
 
Image by Braňo
smoke1.png

THE PROBLEM

  • Children are diagnosed too late

  • Barely any translational research

 

  • There is no cure for UBA5
     

  But we are changing that. 

UBA5 RESEARCH

Key Scholarly Articles 

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

A review of genetically confirmed UBA5 cases

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

UBA5 mutations cause a form of movement disorder

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

UBA5 mutations cause early onset brain disease and epilepsy

The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice

Research model shows that complete loss of UBA5 function is lethal

bg2.png
Make an impact.
Fund UBA5 research. 
Raiden Science Foundation Logo R only-02.png