Author

Amanda Kuhs

Children's Hospital of Philadelphia

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1 Molecular Biology· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:mouse· 3 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:metabolomics· 1

Frequent Co-Authors

Rebecca C. Ahrens‐NicklasiD· 3 shared Laura OhliD· 2 shared Amaliris GuerraiD· 1 shared Carlo Castruccio CastracaniiD· 1 shared Cathleen M. LutziD· 1 shared Emily L. DurhamiD· 1 shared Emily Tsai· 1 shared Jeet Bahadur SinghiD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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3 shared papersGenetics

Rebecca C. Ahrens‐NicklasORCID

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3 papers

Recent·Most cited

Contribution of brain intrinsic branched-chain amino acid metabolismin a novel mouse model of maple syrup urine disease

Amanda Kuhs, Laura Ohl, Tegan Thurston, Jeet Bahadur Singh, Sangeetha Bhuyan, Sarah A. Grandinette, Jing Xu, Sophie A. Siemsgluess, Youseff Jakher, Rebecca C. Ahrens‐Nicklas

This study develops a brain-specific MSUD mouse model to investigate the role of brain-intrinsic BCAA metabolism in chronic neurologic disease, finding elevated BCAA levels and functional deficits.

Journal of Inherited Metabolic Disease · Feb 4, 2025Peer-reviewedGenetics

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mousemodel of Multiple Sulfatase Deficiency

Vi Pham, Lucas Tricoli, Xinying Hong, Parith Wongkittichote, Carlo Castruccio Castracani, Amaliris Guerra, Lars Schlotawa, Laura Ann Adang, Amanda Kuhs, Margaret M. Cassidy, Owen Kane, Emily Tsai, Maximiliano F Presa, Cathleen M. Lutz, Stefano Rivella, Rebecca C. Ahrens‐Nicklas

This study shows that SUMF1 gene therapy via hematopoietic stem cell transplant improves biochemical and functional outcomes in a mouse model of Multiple Sulfatase Deficiency.

Molecular Therapy · Aug 22, 2024Peer-reviewedNeuroscience

Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency

Laura Ohl, Amanda Kuhs, Ryan Pluck, Emily L. Durham, Michael Noji, Nathan Philip, Zoltan Pierre Arany, Rebecca C. Ahrens‐Nicklas

This study challenges the assumption that BCAA supplementation benefits BCKDK deficiency by showing it worsens neurodevelopmental issues in a mouse model.

Molecular Genetics and Metabolism Reports · May 10, 2024Peer-reviewedMolecular Biology