TUBA1B, tubulin alpha 1b, 10376

N. diseases: 96; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.020 Biomarker disease BEFREE iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome. 29730163 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.020 Biomarker disease BEFREE We have interrogated the functional state of the microtubule network in fibroblasts derived from two patients with RTT as well as cortical neurons from a RTT mouse model and observed a reduction in acetylated α-tubulin and an increase in the tubulin-specific deacetylase, histone deacetylase 6 (HDAC6). 25209898 2015