Effect of BTD gene variants on in vitro biotinidase activity.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.07.006
Abstract: INTRODUCTION Biotinidase deficiency (BD), an autosomal recessive disease, is classified into profound (activity C (p.Asp444His), which is associated with partial BD. In vivo studies indicate that this variant reduces the biotinidase activity by 50%. The… read more here.
Keywords: biotinidase activity; variant; effect; biotinidase ... See more keywords
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs
Sign Up to like & getrecommendations! Published in 2022 at "Genetics and Molecular Biology"
DOI: 10.1590/1678-4685-gmb-2020-0432
Abstract: Abstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The… read more here.
Keywords: regulatory elements; reduced biotinidase; utr btd; gene ... See more keywords