Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome

CONCLUSIONS: Our findings contribute an affirmative report of a fourth biallelic variant resulting in a severe clinical phenotype, reminiscent of those induced by previously identified homozygous loss-of-function SOD1 variants. This research not only advances our understanding of the pathogenesis of this debilitating neurological syndrome but also aligns with ongoing intensive efforts to comprehend and address SOD1-linked ALS.PMID:38668754 | DOI:10.1007/s11033-024-09513-6

Source: Molecular Biology Reports - April 26, 2024 Category: Molecular Biology Authors: Mustafa Dogan Kerem Teral ı Recep Eroz H üseyin Kılıç Alper Gezdirici Bur çin Gönüllü Source Type: research