LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance

Michelle Rothaug, Friederike Zunke, Joseph R. Mazzulli, +11

Proceedings of the National Academy of Sciences

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

Andrea Balreira, Paulo Gaspar, Daniel Caiola, +5

Human Molecular Genetics

Serum lipid alterations in GBA-associated Parkinson's disease

Leonor Correia Guedes, Robin Chan, Marcos António Gomes, +10

Parkinsonism & Related Disorders

Serum Lipid AlterationsMetabolic SyndromeLipid AnalysisMedicineParkinson Disease +4

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases

André R. A. Marques, Mina Mirzaian, Hisako Akiyama, +24

Journal of Lipid Research

Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models

Gertjan Kramer, Wouter Wegdam, Wilma E. Donker‐Koopman, +14

FEBS Open Bio

Gaucher MiceGlycobiologyImmunologyPathologyTumor Biology +17

Frequency of Fabry disease in male and female haemodialysis patients in Spain

Paulo Gaspar, Julio Herrera, Daniel Nava Rodrigues, +11

BMC Medical Genetics

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

Olga Azevedo, Andreas Gal, Rui P. V. Faria, +13

Molecular Genetics and Metabolism

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders

María Pía Ferraz, André R. A. Marques, Paulo Gaspar, +10

Molecular Genetics and Metabolism

Lyso-glycosphingolipid AbnormalitiesMendelian DisorderMedicineGlycobiologyPathology +6

Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13 C-encoded internal standards

Mina Mirzaian, Patrick Wisse, María Pía Ferraz, +8

Clinica Chimica Acta

Identical 13Mass SpectrometryMolecular BiologyAnalytical ChemistrySphingoid Bases +4

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

Laura Vilarinho, Maria Luı́s Cardoso, Paulo Gaspar, +18

Human Mutation

GeneticsPathologyMolecular GeneticsNovel L2hgdh MutationsDisease Gene Identification +15