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Search results (382)

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Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.

Sabir MS. et al, (2026), Exp Neurol, 399

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

Barrow HG. et al, (2026)

Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.

Liu W. et al, (2026), Hum Gene Ther

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation.

Cook A. et al, (2026), Neurol Ther, 15, 447 - 456

Links between COVID-19, long COVID, and neurodegeneration: The role of glycosphingolipids.

Spedding M. et al, (2026), Pharmacol Rev, 78

Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 disease.

Ziółkowska EA. et al, (2025), Sci Rep, 16

N-acetyl-L-leucine (Levacetylleucine) normalizes Transcription Factor EB (TFEB) activity by stereospecific bidirectional modulation

Davis LC. et al, (2025)

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.

Sabir MS. et al, (2025), Mol Genet Metab Rep, 45

Correction: 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

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

A pathogenic alpha synuclein variant exacerbates disease progression in a neuron-specific Gba-KO mouse.

Duffy HBD. et al, (2025), Neurobiol Dis, 215

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.

Fogel BL. et al, (2025), Ann Neurol, 98, 448 - 470

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)

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism.

Sabir MS. et al, (2025), Sci Rep, 15

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.

Sabir MS. et al, (2025), JIMD Rep, 66

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