Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Search results (32)

« Back to Publications

Human iPSC Models of Ganglioside Deficiency Reveal a Sialylated Lipid Requirement for Plasma-Membrane Organization and Neuronal Activity

Barrow HG. et al, (2026)

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Kilavuz S. et al, (2025), Orphanet J Rare Dis, 20

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy

Da Silva A. et al, (2025)

Effects of N-Acetyl-Leucine and its enantiomers in Niemann-Pick disease type C cells

TE VRUCHTE D. and TAYLOR-TE VRUCHTE D., (2025), ?

Analysis of glycosphingolipids from cell lines v1

A Priestman D. et al, (2024)

Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C.

Gonzalez-Ortiz F. et al, (2024), Brain Commun, 6

Glucosylceramide depletion disrupts endolysosomal function in GBA-linked Parkinson’s fibroblasts?

Bhardwaj M. et al, (2023)

Analysis of glycosphingolipids from animal tissues v1

A Priestman D. et al, (2022)

Analysis of glycosphingolipids from human cerebrospinal fluid v1

A Priestman D. et al, (2022)

Glycosphingolipid Changes in Plasma in Parkinson's Disease Independent of Glucosylceramide Levels.

Te Vruchte D. et al, (2022), Mov Disord, 37, 2129 - 2134

Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.

Wallom K-L. et al, (2022), Glycoconj J, 39, 39 - 53

Effects of N-Acetyl-Leucine and its enantiomers in Niemann-Pick disease type C cells

te Vruchte D. et al, (2019)

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.

Cortina-Borja M. et al, (2018), Orphanet J Rare Dis, 13

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.

Probert F. et al, (2017), Sci Rep, 7

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency.

Tharkeshwar AK. et al, (2017), Sci Rep, 7

Load More