Associated Papers
Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies.
Rossi Sebastiano M et al.
Molecules (basel, Switzerland), 2022
AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin.
Rossi Sebastiano M et al.
Drug Discovery Today, 2022
Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.
Sato K et al.
The Journal of Biological Chemistry, 2018
Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formation.
Otomo A et al.
Febs Letters, 2011
Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking.
Kunita R et al.
The Journal of Biological Chemistry, 2004
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics.
Otomo A et al.
Human Molecular Genetics, 2003
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