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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
TranscriptomicsBrain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases
The neuronal ceroid lipofuscinoses (NCL) are a group of childhood inherited neurodegenerative disorders characterized by blindness, early dementia and pronounced cortical atrophy. The similar pathological and clinical profiles of different forms of NCL suggest that common disease mechanisms may be i...
ORGANISM(S): Mus musculus 
2008-05-21 | E-MEXP-1333 | biostudies-arrayexpress
ProteomicsLysosomal alterations and altered electrophysiological activity in atypical juvenile neuronal ceroid lipofuscinoses (CLN3 1 kb deletion, E295K) patient-derived cortical neurons
Juvenile neuronal ceroid lipofuscinoses (JNCL) is a lysosomal storage disorder associated with fatal neurodegeneration that is caused by mutations in CLN3. Most individuals with JNCL carry at least one allele with 1 kb deletion in CLN3 which results in the deletion of exons 7 and 8. There is a need ...
ORGANISM(S): Homo sapiens (Human) 
2022-12-07 | PXD032191 | Pride
Lysosomal storage disorder Neurological disease models Juvenile neuronal ceroid lipofuscinoses Human induced pluripotent stem cells 
UnknownHigh diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
Not available
S-EPMC6850977 | biostudies-literature
TranscriptomicsExacerbated neuronal ceroid lipofuscinosos phenotype in Cln1/5 double knock-out mice
Both CLN1 and CLN5 deficiency leads to severe neurodegenerative diseases of childhood, known as neuronal ceroid lipofuscinoses (NCL). The broadly similar phenotypes of NCL mouse models, and the potential for interactions between NCL proteins, raise the possibility of shared or converging disease mec...
ORGANISM(S): Mus musculus 
2012-10-31 | E-GEOD-37643 | biostudies-arrayexpress
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
UnknownPlasma biomarkers for neuronal ceroid lipofuscinosis.
Not available
S-EPMC4744155 | biostudies-literature
UnknownGenetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
Not available
S-EPMC1682401 | biostudies-literature
UnknownMoving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.
Not available
S-EPMC4833901 | biostudies-literature
UnknownMutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Not available
S-EPMC3363329 | biostudies-literature
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