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ProteomicsProteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1
Gaucher disease (GD) is caused by the defective activity of acid beta-glucosidase (GCase) which results from mutations in GBA1. Neurological forms of GD (nGD) can be generated in mice by intra-peritoneal injection of conduritol B-epoxide (CBE) which irreversibly inhibits GCase. Using this approach, ...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-07-12 | MSV000092415 | MassIVE
ProteomicsA novel C-terminal DxRSDxE motif in ceramide synthases involved in dimer formation
Ceramide is synthesized via the ceramide synthases (CerSs), six of which have been identified in mammalian cells, with each using a unique subset of acyl-CoAs for ceramide synthesis. The CerSs are part of a larger gene family, the Tram-Lag-CLN8 (TLC) domain family. We now identify a unique, C-termin...
ORGANISM(S): Homo sapiens (Human) 
2022-01-17 | PXD029496 | Pride
Motif Ceramide synthase Ceramide Dimer Sphingolipids 
ProteomicsFatty acid transport protein 2 interacts with ceramide synthase 2 to regulate ceramide synthesis
Dihydroceramide is generated via the action of (dihydro)ceramide synthases (CerSs), which use two substrates, namely sphinganine and fatty acyl CoAs. Sphinganine is generated via the sequential activity of two integral membrane proteins located in the endoplasmic reticulum. Less is known about the s...
ORGANISM(S): Mus musculus (Mouse) 
2022-04-04 | PXD031088 | Pride
Ceramide synthase Dihydroceramide Ceramide Fatty acid transport protein Sphingolipids 
ProteomicsLarge-scale proteomics analysis of five brain regions from Parkinson’s disease patients with a GBA1 mutation
Despite being the second most common neurodegenerative disorder, little is known about Parkinson’s disease (PD) pathogenesis. A number of genetic factors predispose towards PD, among them mutations in GBA1, which encodes the lysosomal enzyme acid-β-glucosidase. We now perform non-targeted, mass spec...
ORGANISM(S): Homo sapiens (Human) 
2024-02-19 | PXD047134 | Pride
Α-synuclein Lysosomal storage disorders Parkinson’s disease Gaucher disease Proteomics. 
ProteomicsPathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.
In this study we present data from the only available post-mortem mucolipidosis type IV (MLIV) patient. We characterise the brain pathology of the MLIV patient and compare it to pathology from the mice model of MLIV. Moreover, we characterise the proteins found in the MLIV patient CSF and compare i...
ORGANISM(S): Mus musculus (Mouse) 
2021-08-10 | PXD020490 | Pride
Brain Mice Csf Human 
ProteomicsPathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.
In this study we present data from the only available post-mortem mucolipidosis type IV (MLIV) patient. We characterise the brain pathology of the MLIV patient and compare it to pathology from the mice model of MLIV. Moreover, we characterise the proteins found in the MLIV patient CSF and compare i...
ORGANISM(S): Homo sapiens (Human) 
2021-08-10 | PXD020491 | Pride
Brain Mice Csf Human 
ProteomicsPathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.
In this study we present data from the only available post-mortem mucolipidosis type IV (MLIV) patient. We characterise the brain pathology of the MLIV patient and compare it to pathology from the mice model of MLIV. Moreover, we characterise the proteins found in the MLIV patient CSF and compare i...
ORGANISM(S): Homo sapiens (Human) 
2021-08-10 | PXD020494 | Pride
Brain Mice Csf Human 
ProteomicsIdentification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease
Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-29 | MSV000080786 | MassIVE
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