Author

Shaukat Ali Khan

Alfred I. duPont Hospital for ChildrenORCID 0000-0001-7689-1258Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetics· 2 Biochemistry· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 3 Organism:human· 2 Organism:mouse· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:protein folding & dynamics· 1 Assay:proteomics· 1 Assay:spatial transcriptomics· 1

Frequent Co-Authors

Shunji TomatsuiD· 3 shared Alexey V. PshezhetskyiD· 2 shared Xuefang PaniD· 2 shared Alexei GorelikiD· 1 shared Angelo PalmigianoiD· 1 shared Antoine CailloniD· 1 shared Bénédicte AmilhoniD· 1 shared Bhushan NagariD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetics

Shunji TomatsuORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

BiochemistryJournal of Clinical InvestigationPeer-reviewedJun 17, 2025

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins

TianMeng Xu, Rachel Heon‐Roberts, Travis Moore…·Alexey V. Pshezhetsky

This study shows that reduced NEU1 activity in neurological MPS leads to hypersialylation of brain glycoproteins, contributing to CNS pathology through disrupted synaptogenesis and behavior.

5 citations

humanmouse

𝕏 PostBluesky

GeneticsCellsPeer-reviewedMay 20, 2024

Heterologous HSPC transplantation rescues neuroinflammation and ameliorates peripheral manifestations in the mouse model of lysosomal transmembrane enzyme deficiency, MPS IIIC.

Xuefang Pan, Antoine Caillon, Shuxian Fan…·Alexey V. Pshezhetsky

This study shows that heterologous HSPC transplantation reduces neuroinflammation and improves peripheral symptoms in a mouse model of MPS IIIC, but does not correct lysosomal storage in neurons.

4 citations

mouseexperimental assay

𝕏 PostBluesky

GeneticsNature CommunicationsPeer-reviewedSep 6, 2019

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

Natalia Gomez‐Ospina, Samantha G. Scharenberg, Nathalie Mostrel…·Matthew Hebden Porteus

This study uses CRISPR/Cas9 to edit hematopoietic stem cells to express iduronidase, correcting Mucopolysaccharidosis type I in mice.

123 citationstop 1%

humanexperimental assay

𝕏 PostBluesky