Table V. Human counterparts of No-enriched rat brain proteins whose mutations cause neurodegenerative diseases.
Protein | No/Nu | Function | Disease/neurological phenotype | OMIM#/(Reference) |
---|---|---|---|---|
EWSR1 | 1.9 | RNA binding protein, RNA splicing, ribosomal biogenesis | Amyotrophic Lateral Sclerosis | (Couthouis et al. 2012)a |
TARDBP | 1.45 | DNA/RNA binding protein, RNA splicing | Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia; Als10 | 612069 |
LMNB1 | 1.47 | nuclear envelop protein | Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant (LMNB1 duplication); ADLD; cerebellar ataxia, cognitive decline, personality changes due to degeneration of the CNS white matter | 169500 |
a Couthouis, J. et al. (2012) Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 2899–911.