ScienceJune 8, 2021

Tackling Salla

Tackling a Rare Genetic Disease Salla disease is a rare autosomal recessive…
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Victor Milman

Tackling a Rare Genetic Disease

Salla disease is a rare autosomal recessive genetic disease that displays symptoms from the very beginning of a child’s life.

The psychomotor symptoms worsen during childhood, leading to severe motor and cognitive deficits.

This results from a single mutation of the gene coding for the sialic acid transporter, which leads to trafficking defect of this protein.

Virtual Approaches

To better understand this incurable disease, a group of researchers including BIOVIA’s Ambassador Francine Acher and BIOVIA’s Dr Hugues-Olivier Bertrand, Dr Anne Goupil-Lamy and Alexandre Cabayé have published their findings in a paper entitled “Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin,” which appears in the Journal of Medicinal Chemistry.

, they studied the interactions of new inhibitors using docking and molecular dynamics simulations in an explicit environment.

These new compounds may help scientists to understand the physiological role of sialin, while also developing chaperones, types of molecules that could fix sialin’s trafficking defect.

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