Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Keyphrases

• Biallelic Variants 100%
• Encephalopathy 100%
• UBA5 100%
• Infantile Onset 100%
• Ubiquitin-fold Modifier 1 100%
• Hypomorphic mutation 50%
• Compound Heterozygous mutation 50%
• Gain-of-function mutation 50%
• Apoptosis 25%
• Developmental Disorders 25%
• Allele Frequency 25%
• Amino Acid Substitution 25%
• Human Disease 25%
• Epilepsy 25%
• Skipping 25%
• Microcephaly 25%
• Spasticity 25%
• Exome Sequencing 25%
• Neonatal Death 25%
• Biallelic 25%
• Thioester 25%
• Early Infancy 25%
• Northern Finland 25%
• Exon 2 25%
• Nonsense Variant 25%
• Dystonia 25%
• CNS Activity 25%
• Cell Analysis 25%
• Epileptic Syndromes 25%
• Postnatal Microcephaly 25%
• CNS Development 25%
• Missense Substitution 25%
• Ubiquitin-like 25%
• Severe Irritability 25%
• UFC1 25%
• UFM1 25%
• Evolutionarily Conserved 25%
• Uncharacterized 25%
• Activating Enzyme 25%
• 1-system 25%

Biochemistry, Genetics and Molecular Biology

• Ubiquitin 100%
• Allele 40%
• Intellectual Disability 20%
• Enzyme 20%
• Exome Sequencing 20%
• Gene Frequency 20%
• Exon 20%
• Missense 20%
• Amino Acid Substitution 20%
• Thioester 20%
• Infancy 20%
• Irritability 20%
• Programmed Cell Death 20%