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MetabolomicsLongitudinal Deep Multi-Omics Profiling in aCLN3Δex7/8Minipig Model Reveals Novel Biomarker Signatures for Batten Disease
Development of therapies for CLN3 Batten disease, a rare pediatric lysosomal storage disorder, has been hindered by the lack of etiological insights and translatable biomarkers to clinics. Here, we used a deep multi-omics approach to discover new biomarkers using longitudinal serum samples from a po...
2025-08-13 | MTBLS1107 | MetaboLights
UnknownNeurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
Not available
S-EPMC3976549 | biostudies-literature
ProteomicsiTRAQ8 analysis of control and neuronal ceroid lipofuscinosis human brain samples.
iTRAQ8 analysis of autopsy samples representing brain and cerebrospinal fluid from neuronal ceroid lipofuscinosis patients and controls.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-06-06 | MSV000081143 | MassIVE
UnknownEfficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).
Not available
S-EPMC5215570 | biostudies-literature
ProteomicsThe Batten disease gene product CLN3 is required for the efflux of glycerophosphodiesters from lysosomes
The lysosome has many cellular roles, including degrading and recycling macromolecules and signaling to the mTORC1 growth regulator. Lysosomal dysfunction occurs in various human diseases, including common neurodegenerative diseases as well as monogenic lysosomal storage disorders (LSDs). For most L...
ORGANISM(S): Mus musculus (Mouse) 
2022-07-11 | PXD018624 | Pride
Batten disease Liver Mouse Cln3 Lysosome 
ProteomicsTransmembrane Batten disease proteins interact with a shared network of vesicle sorting proteins, impacting synaptic composition and function
Batten disease is unique among lysosomal storage disorders for the early and profound manifestation in the central nervous system, but little is known regarding potential neuron-specific roles for the disease-associated proteins. We demonstrate substantial overlap in the protein interactomes of thre...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2022-03-19 | MSV000089081 | MassIVE
ProteomicsIdentification of lysosomal phospholipases in context of Batten disease Cln3
Batten disease, the most prevalent form of neurodegeneration in children, is caused by mutations in the CLN3 gene, which encodes a lysosomal transmembrane protein. The loss of CLN3 leads to significant accumulation of glycerophosphodiesters (GPDs), the end products of glycerophospholipid catabolism ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-08-23 | MSV000092731 | MassIVE
ProteomicsKnockout validation of Phospholipases in context of Batten disease Cln3
Batten disease, the most prevalent form of neurodegeneration in children, is caused by mutations in the CLN3 gene, which encodes a lysosomal transmembrane protein. The loss of CLN3 leads to significant accumulation of glycerophosphodiesters (GPDs), the end products of glycerophospholipid catabolism ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-08-23 | MSV000092729 | MassIVE
UnknownThe CLN3 gene and protein: What we know.
Not available
S-EPMC6900386 | biostudies-literature
UnknownCurrent Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
Not available
S-EPMC7663513 | biostudies-literature
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