Article
A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.
The CRISPR journal - 1 Feb 2022
Antony Justin S, Daniel-Moreno Alberto, Lamsfus-Calle Andrés, Raju Janani, Kaftancioglu Merve, Ureña-Bailén Guillermo, Rottenberger Jennifer, Hou Yujuan, Santhanakumaran Vidiyaah, Lee Jun-Hoe, Heumos Lukas, Böhringer Judith, Krägeloh-Mann Ingeborg, Handgretinger Rupert, Mezger Markus
Abstract excerpt
Metachromatic leukodystrophy (MLD) is a rare genetic disorder caused by mutations in the Arylsulfatase-A (ARSA) gene. The enzyme plays a key role in sulfatide metabolism in brain cells, and its deficiency leads to neurodegeneration. The clinical manifestations of MLD include stagnation and decline of motor and cognitive function, leading to premature death with limited standard treatment options. Here, we...
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