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Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.
Klivényi P, Szpisjak L, Salamon A, Németh VL, Szépfalusi N, Maróti Z, Kalmár T, Zimmermann A, Zádori D. Klivényi P, et al. Ideggyogy Sz. 2023 Jan 30;76(1-2):63-72. doi: 10.18071/isz.76.0063. Ideggyogy Sz. 2023. PMID: 36892293 Free article. English.
One of these genes was STUB1 (STIP1 homology and U-box containing protein 1) (chromosome 16p13, NM_005861.4) encoding a multifunctional E3 ubiquitine ligase (CHIP)1. In 2013, STUB1 was identified as a causative gene of autosomal recessive spinocerebellar a …
One of these genes was STUB1 (STIP1 homology and U-box containing protein 1) (chromosome 16p13, NM_005861.4) encoding a multifunctional E3 u …
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
Turkgenc B, Sanlidag B, Eker A, Giray A, Kutuk O, Yakicier C, Tolun A, Temel SG. Turkgenc B, et al. Hum Mutat. 2018 Oct;39(10):1344-1348. doi: 10.1002/humu.23601. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30058754
.*240T > C variant in the 3'UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (SCAR16). In other genes, such an alteration of the evolutionarily highly conserved polyadenylation signal from AATAAA to AACAAA …
.*240T > C variant in the 3'UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia …