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Sustained biologically active AAT levels support feasibility and potential of this approach for the treatment of AATD, and substantial and precise hepatic correction of the pathogenic SERPINA1 PI*ZZ variant is achieved.
BACKGROUND Pleuroparenchymal fibroelastosis (PPFE) is a rare, most often idiopathic fibrotic lung disease with poor prognosis, mainly affecting adults. Biallelic pathogenic variants in the deoxyguanosine kinase gene (DGUOK) cause a mitochondrial DNA (mtDNA) depletion syndrome, predominantly affecting infants with sever...
Here, coordinated adaptations in NPC biology that bias neurodevelopmental trajectories toward neocortical downscaling are identified and multiple adaptations in apical and basal progenitors that converge on reduced progenitor capacity, alter early progenitor dynamics, and likely constrain neuronal output are uncovered.
This case report supports the relevance of facial analysis and comprehensive variant validation strategies, particularly for deep intronic variants with ambiguous in silico splicing predictions, particularly for deep intronic variants with ambiguous in silico splicing predictions.
Two human induced pluripotent stem cell lines from a female FD patient carrying a heterozygous c.644A > G missense mutation provide a valuable resource for studying FD mechanisms and developing therapeutic strategies.
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