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Table 2 The five protein-coding genes that were found to be differentially-expressed in all three tissues of patients with SA (iPSC-derived neurons, FCLs and LCLs)

From: Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

Gene name Encoded protein Description
C1orf115 Chromosome 1 open reading frame 115 Previously characterised to be down regulated in severe AD [49]. Also found under-expressed in Ataxia-telangiectasia cerebellar cortex [50]
DOCK9 Dedicator of cytokinesis protein 9 Member of DOCK proteins (atypical guanine nucleotide exchange factors-GEFs) associated with a broad range of neurodevelopmental, neuropsychiatric and neurodegenerative diseases, such as AD, PD, HD and ALS [51]). Involved in dendrite development and associated with bipolar disorder [52, 53]
TMEM132B Transmembrane protein 132B Variants in the genes of the TMEM132 family are associated with hearing loss, panic disorder or cancer [54]
CYB5R2 Cytochrome B5 Reductase 2 Participates in cholesterol biosynthesis and fatty acid desaturation and elongation [55, 56]. It is a plasma membrane redox enzyme, found in neuronal synaptic vesicles and its role is to control the redox state and bioenergetics for the protection of neuronal cells against metabolic and oxidative stress [57]. Reported to generate superoxide anion [58], which can in turn affect the onset of apoptosis of cultured cerebellar granule neurons (CGN) [59]
GLDC Glycine dehydrogenase Critical enzyme in glycine degradation. Variants of the GLDC gene cause glycine encephalopathy due to increased levels of glycine in the brain. GLDC can also affect the pattern of brain atrophy and the clinical features in tauopathies [60]