Search Results - "Saville, Jennifer T."

Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses by Saville, Jennifer T., McDermott, Belinda K., Fletcher, Janice M., Fuller, Maria

“…Purpose Expanding treatments for the mucopolysaccharidoses—a family of genetic disorders—place unprecedented demands for accurate, timely diagnosis because…”
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Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease by Saville, Jennifer T, Derrick-Roberts, Ainslie L K, McIntyre, Chantelle, Fuller, Maria

“…Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a single gene ( ) childhood onset neurodegenerative disease for which gene therapy is in…”
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Reduced cerebral vascularization in experimental neuronopathic Gaucher disease by Smith, Nicholas JC, Fuller, Maria, Saville, Jennifer T, Cox, Timothy M

“…The glycosphingolipidosis, Gaucher disease, in which a range of neurological manifestations occur, results from a deficiency of acid β‐glucocerebrosidase, with…”
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Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory by Saville, Jennifer T., Fuller, Maria

“…Following clinical indications, the laboratory diagnosis of the inherited metabolic myopathy, Pompe disease (PD), typically begins with demonstrating a…”
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Mass spectrometry-directed structure elucidation and total synthesis of ultra-long chain (O-acyl)-ω-hydroxy fatty acids by Hancock, Sarah E., Ailuri, Ramesh, Marshall, David L., Brown, SimonH.J., Saville, Jennifer T., Narreddula, Venkateswara R., Boase, Nathan R., Poad, BerwyckL.J., Trevitt, Adam J., Willcox, MarkD.P., Kelso, Michael J., Mitchell, Todd W., Blanksby, Stephen J.

“…The (O-acyl)-ω-hydroxy FAs (OAHFAs) comprise an unusual lipid subclass present in the skin, vernix caseosa, and meibomian gland secretions. Although they are…”
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Determination of ester position in isomeric (O-acyl)-hydroxy fatty acids by ion trap mass spectrometry by Marshall, David L., Saville, Jennifer T., Maccarone, Alan T., Ailuri, Ramesh, Kelso, Michael J., Mitchell, Todd W., Blanksby, Stephen J.

“…Rationale (O‐acyl)‐hydroxy fatty acids (OAHFAs) are a recently discovered class of endogenous lipids, generating significant interest for their correlation…”
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Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation by Blumenreich, Shani, Nehushtan, Tamar, Barav, Or B., Saville, Jennifer T., Dingjan, Tamir, Hardy, John, Fuller, Maria, Futerman, Anthony H.

“…A number of genetic risk factors have been identified over the past decade for Parkinson’s Disease (PD), with variants in GBA prominent among them. GBA encodes…”
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Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency by Nagree, Murtaza S., Rybova, Jitka, Kleynerman, Annie, Ahrenhoerster, Carissa J., Saville, Jennifer T., Xu, TianMeng, Bachochin, Maxwell, McKillop, William M., Lawlor, Michael W., Pshezhetsky, Alexey V., Isaeva, Olena, Budde, Matthew D., Fuller, Maria, Medin, Jeffrey A.

“…Mutations in ASAH1 have been linked to two allegedly distinct disorders: Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy…”
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The long and the short of Huntington’s disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases by Phillips, Gabrielle R., Saville, Jennifer T., Hancock, Sarah E., Brown, Simon H. J., Jenner, Andrew M., McLean, Catriona, Fuller, Maria, Newell, Kelly A., Mitchell, Todd W.

“…Abstract Huntington’s disease is a devastating neurodegenerative disorder that onsets in late adulthood as progressive and terminal cognitive, psychiatric and…”
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Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells by Lehmann, Rebecca J., Jolly, Lachlan A., Johnson, Brett V., Lord, Megan S., Kim, Ha Na, Saville, Jennifer T., Fuller, Maria, Byers, Sharon, Derrick-Roberts, Ainslie L.K.

“…Mucopolysaccharidosis type IIIA (MPS IIIA) is characterised by a progressive neurological decline leading to early death. It is caused by bi-allelic…”
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Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA by Chin, Sharon J., Saville, Jennifer T., McDermott, Belinda K., Zankl, Andreas, Fletcher, Janice M., Fuller, Maria

“…Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme,…”
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Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA by Saville, Jennifer T., Fuller, Maria

“…Gangliosides are complex glycosphingolipids that are vital for proper brain development and function. Alterations in ganglioside metabolism are evident in…”
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Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results by Saville, Jennifer T., Herbst, Zackary M., Gelb, Michael H., Fuller, Maria

“…The mucopolysaccharidoses (MPS) are a family of inborn errors of metabolism resulting from a deficiency in a lysosomal hydrolase responsible for the…”
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Expanding the clinical utility of glucosylsphingosine for Gaucher disease by Saville, Jennifer T., McDermott, Belinda K., Chin, Sharon J., Fletcher, Janice M., Fuller, Maria

“…Gaucher disease (GD) is an inherited metabolic disorder characterised by impaired catabolism of the glycosphingolipid, glucosylceramide. The deacetylated…”
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Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse by Saville, Jennifer T., McDermott, Belinda K., Fuller, Maria

“…Glycosaminoglycan (GAG) catabolism involves endo-hydrolysis of polysaccharides followed by the sequential removal of the non-reducing end residue from the…”
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Evaluation of biomarkers for Sanfilippo syndrome by Saville, Jennifer T., Flanigan, Kevin M., Truxal, Kristen V., McBride, Kim L., Fuller, Maria

“…Sanfilippo syndrome or mucopolysaccharidosis type III (MPS III) is a childhood metabolic disorder marked by neuropathology arising due to impaired heparan…”
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GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals by ter Huurne, Menno, Parker, Benjamin L., Liu, Ning Qing, Qian, Elizabeth Ling, Vivien, Celine, Karavendzas, Kathy, Mills, Richard J., Saville, Jennifer T., Abu-Bonsrah, Dad, Wise, Andrea F., Hudson, James E., Talbot, Andrew S., Finn, Patrick F., Martini, Paolo G.V., Fuller, Maria, Ricardo, Sharon D., Watt, Kevin I., Nicholls, Kathy M., Porrello, Enzo R., Elliott, David A.

“…Recent studies in non-human model systems have shown therapeutic potential of nucleoside-modified messenger RNA (modRNA) treatments for lysosomal storage…”
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Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy by Saville, Jennifer T., Smith, Nicholas J.C., Fletcher, Janice M., Fuller, Maria

“…Impaired sulfatide catabolism is the primary biochemical insult in patients with the inherited neurodegenerative disease, metachromatic leukodystrophy (MLD),…”
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Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet by Saville, Jennifer T., Thai, Hong Ngoc, Lehmann, Rebecca J., Derrick‐Roberts, Ainslie L. K., Fuller, Maria

“…Gangliosides are the most complex oligosaccharide‐containing glycosphingolipids defined by the presence of sialic acid and although present in all tissues,…”
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Detection and quantification of tear phospholipids and cholesterol in contact lens deposits: the effect of contact lens material and lens care solution by Saville, Jennifer T, Zhao, Zhenjun, Willcox, Mark D P, Blanksby, Stephen J, Mitchell, Todd W

“…To examine the deposition of tear phospholipids and cholesterol onto worn contact lenses and the effect of lens material and lens care solution. Lipids were…”
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