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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

R. Tikkanen

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Open access Sep 2026

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose‐6‐Phosphorylation and Cellular Uptake of Aspartylglucosaminidase

It is shown that the Man‐6‐phosphorylation and cellular uptake of AGA are enhanced by the coexpression of S1S3, and high amounts of affinity‐tagged recombinant human AGA can be expressed in HEK293T cells and purified from the culture medium, indicating that the Man‐6‐dependent route is the main endocytic pathway of AGA...

A. Banning, Lidia Reznikova, Adla Murad et al. · 0 citations
Open access Aug 2026

Isoform-specific regulation of SMARCAD1 dosage in ectodermal homeostasis and dysplasia

It is shown that independent patient-derived mutations impair splicing of SMARCAD1-s, the skin-specific short isoform of the ATP-dependent chromatin remodeller SMARCAD1, resulting in intron retention, providing evidence for a threshold-dependent haploinsufficiency model of disease.

M. Seibert, Lea Kursawe, Manuel Lang et al. · 0 citations

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