Jennifer T. Saville

72 King William Road
North Adelaide, SA 5006, Australia

Last Updated: 09/26/2026

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Found 26 publications

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.

Journal: Biology open
Published: June 30, 2025

Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease.

Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease.

Journal: Molecular genetics and metabolism
Published: March 18, 2025

Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats.

Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats.

Journal: Heliyon
Published: December 24, 2023

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.

Journal: Molecular genetics and metabolism
Published: May 29, 2023

GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.

GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.

Journal: American journal of human genetics
Published: March 30, 2023

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.

Journal: Communications biology
Published: March 29, 2022

Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation.

Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation.

Journal: NPJ Parkinson's disease
Published: February 06, 2022

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.

Journal: Molecular genetics and metabolism reports
Published: September 30, 2021

The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases.

The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases.

Journal: Brain communications
Published: June 14, 2021

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Journal: Metabolites
Published: May 05, 2021

Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease.

Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease.

Journal: Human gene therapy
Published: December 19, 2020

Expanding the clinical utility of glucosylsphingosine for Gaucher disease.

Expanding the clinical utility of glucosylsphingosine for Gaucher disease.

Journal: Journal of inherited metabolic disease
Published: October 02, 2019
Showing 1-12 of 26

Last Updated: 09/26/2026