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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
TranscriptomicsExpression Profile Of A Caenorhabditis Elegans Model Of Adult Onset Neuronal Ceroid Lipofuscinosis Reveals Down Regulation Of Ubiquitin E3 Ligase Components.
Transcriptional profiling of two C. elegans mutants of dnj-14, the worm homolog of cysteine string protein (CSP), compared to two control strains N2 (Bristol) and CZ1200. CSP is a neuroprotective protein and the C. elegans mutants, tm3223 and ok237, are used to model the neurodegenerative disease, a...
ORGANISM(S): Caenorhabditis elegans 
2015-12-04 | E-MTAB-3147 | biostudies-arrayexpress
TranscriptomicsGene expression in leucocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease)
Identification of differentially expressed genes in lecocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease) Leucocyte RNA expression of consanguineous Kufs disease cases (n=4) and unrelated healthy controls (n=4)
ORGANISM(S): Homo sapiens 
2011-09-30 | E-GEOD-30369 | biostudies-arrayexpress
ProteomicsProteomics insights into Infantile Neuronal Ceroid Lipofuscinosis (CLN1) point to the involvement of palmitoylation in the disease
Mutations in the depalmitoylation enzyme, palmitoyl protein thioesterase (PPT1), result in the early onset neurodegenerative disease known as Infantile Neuronal Ceroid Lipofuscinosis. Here, we provide proteomic evidence suggesting that PPT1 deficiency could be considered as a ciliopathy. An unbiase...
ORGANISM(S): Mus musculus (Mouse) 
2021-12-14 | PXD001966 | Pride
Brain Palmitoylation Disease 
GenomicsGenotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis - LDN 6716
Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis - LDN 6716
PRJNA449798 | ENA
GenomicsGenotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis - LDN 6716
Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis - LDN 6716
PRJNA449799 | ENA
GenomicsSynapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-Juvenile Neuronal Ceroid Lipofuscinosis
Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-Juvenile Neuronal Ceroid Lipofuscinosis
PRJNA565410 | ENA
TranscriptomicsSynapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-Juvenile Neuronal Ceroid Lipofuscinosis
We developed an invitro model for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) using isogenic CLN3 mutated human iPS cell lines and performed transcriptomic profiling of brain organoids derived from these lines to identify transcriptomic changes in the early developing brain model.
ORGANISM(S): Homo sapiens 
2020-01-03 | GSE137420 | GEO
UnknownMRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.
Not available
S-EPMC5309144 | biostudies-literature
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