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Full-Text Articles in Cell Anatomy
Molecular Dynamics Of Bcs1l: A New Homology Model And The Structural Impact Of Pathogenic Mutations, Josh Deyoung, Sadie Heeringa, Rachael Baker, Amy Wilstermann
Molecular Dynamics Of Bcs1l: A New Homology Model And The Structural Impact Of Pathogenic Mutations, Josh Deyoung, Sadie Heeringa, Rachael Baker, Amy Wilstermann
Summer Research
- Mutations to BCS1L can lead to one of three distinct rare diseases: Björnstad syndrome, BCS1L mitopathy, GRACILE syndrome
- These diseases cause a variety of symptoms in patients that range from mild (hearing loss and brittle hair) to severe and fatal (iron overload, failure to thrive, lactic acidosis, aminoaciduria, early death)