Missense mutation in the GLA gene encoding the glycoportein Lysosomal alpha-galactosidase A (a-Gal) cause Anderson-Fabry disease (AFD), an X-linked genetic disorder, characterised by a progressive accumulation of sphingolipid mTERIAL IN VARIOUS AREAS OF THE BODY, AND AFFECTING ABOUT ONE IN 40,000 MALES, WITH SYMPTOMS OF VARYING SEVERITY.
Characterizing a-GAL Mutants: Fom Misfolding to Rescue
Monticelli M.;Saccoccia F.;Papoff G.;Andreotti G.
2024
Abstract
Missense mutation in the GLA gene encoding the glycoportein Lysosomal alpha-galactosidase A (a-Gal) cause Anderson-Fabry disease (AFD), an X-linked genetic disorder, characterised by a progressive accumulation of sphingolipid mTERIAL IN VARIOUS AREAS OF THE BODY, AND AFFECTING ABOUT ONE IN 40,000 MALES, WITH SYMPTOMS OF VARYING SEVERITY.File in questo prodotto:
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