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ProteomicsLipofuscin accumulation in aging and CLN1 is associated with deficient de-S-acylation, lysomitochondrial dysfunction, and lipid dyshomeostasis
Lipofuscin is an autofluorescent material that accrues in brain tissues with age and in Neuronal Ceroid Lipofuscinosis (NCL), a neurodegenerative disease with pediatric onset. The distribution, composition, and organellar origin of lipofuscin have remained unclear despite its widespread presence in ...
ORGANISM(S): Mus musculus (Mouse) 
2026-05-06 | PXD054766 | Pride
ProteomicsIdentification of palmitoyl protein thioesterase 1 substrates defines roles for synaptic depalmitoylation
We report here the identification of substrates of the depalmitoylating enzyme PPT1 by quantitative mass spectrometry. We utilized a stringent two-step Acyl Resin-Assisted Capture (Acyl RAC) screen in which increased palmitoylation in vivo in PPT1 knockout is the first selection criteria for substra...
ORGANISM(S): Mus musculus (Mouse) 
2022-05-19 | PXD017270 | Pride
Synapse Synaptic cleft Synaptic vesicle endocytosis Neuronal ceroid lipofuscinoisis Synaptic adhesion molecules Ampa receptor Neurodegeneration Palmitoylation Palmitoyl protein thioesterase 1 
ProteomicsIdentification of substrates of palmitoyl protein thioesterase 1 highlights roles of depalmitoylation in disulfide bond formation and synaptic function
Loss-of-function mutations in the depalmitoylating enzyme palmitoyl protein thioesterase 1 (PPT1) cause Neuronal Ceroid Lipofuscinosis (NCL), a devastating neurodegenerative disease. The substrates of PPT1 are largely undescribed, posing a limitation on molecular dissection of disease mechanisms and...
ORGANISM(S): Mus musculus (Mouse) 
2022-03-07 | PXD032052 | Pride
Synapse Synaptic vesicle endocytosis Neuronal ceroid lipofuscinosis Na+/k+ transporting atpase Palmitoyl protein thioesterase 1 Synaptic adhesion molecules Zdhhc Neurodegeneration Palmitoylation Disulfide bond 
ProteomicsA nuclear role for the Argonaute protein AGO2 in mammalian gametogenesis
The reduced sperm count observed in Ago2 cKO mice implies that AGO2 has non-redundant functions in the male germ line. Because AGO2 is a key protein in the RNA interference (RNAi) pathway, we first postulated that AGO2 loss disrupts normal transcriptional and translational dynamics of target mRNAs r...
ORGANISM(S): Mus musculus (Mouse) 
2022-08-01 | PXD027935 | Pride
Ago Argonoute proteins Spermatogenesis Label free quantitation 
ProteomicsLF2 phosphorylation of the CDKL5 activation loop controls CDKL5’s activity
Cdkl5 Deficiency Disorder (CDD) is caused by variants in the protein kinase CDKL5, leading to symptoms such as seizures, developmental delay, and severe intellectual disability. The Chlamydomonas homologue of human CDKL5 is the flagellar protein LF5, whose absence results in a long flagella phenotyp...
ORGANISM(S): Chlamydomonas reinhardtii 
2025-11-15 | PXD068782 | Pride
Cilia Cdkl5 Phospho-proteome Flagella Cdd Chlamydomonas Cdk20 Lf5 Activation loop Lf2 Phosphorylation Kinase Proteome Cdkl5 deficiency disorder 
TranscriptomicsSlf1p and Sro9p affinity isolations; SLF1 overexpression
This SuperSeries is composed of the following subset Series: GSE27310: Slf1p and Sro9p affinity isolations GSE27311: SLF1 overexpression versus control cells Refer to individual Series
ORGANISM(S): Saccharomyces cerevisiae 
2012-02-08 | E-GEOD-27312 | biostudies-arrayexpress
TranscriptomicsSlf1p and Sro9p affinity isolations
To identify RNAs specifically associated with Slf1p and Sro9p, cells expressing TAP-tagged Slf1, Sro9 or Fpr1 (negative control) were grown to mid-log phase in synthetic complete medium and harvested by centrifugation. RNA affinity isolations were essentially performed as described (Gerber et al. 20...
ORGANISM(S): Saccharomyces cerevisiae 
2012-02-08 | E-GEOD-27310 | biostudies-arrayexpress
TranscriptomicsSLF1 overexpression versus control cells
Measure the relative changes of gene expression upon GIS2 overexpression; BY4741 cells bearing plasmid pBG1805-Slf1 or control plasmid pBG1805 were grown in SC ura- gal at 30 C for 6 or 24 hours. An overnight culture of cells was inoculated at an OD600 of 0.1 and further grown to an OD600 of 0.5- 0...
ORGANISM(S): Saccharomyces cerevisiae 
2012-02-08 | E-GEOD-27311 | biostudies-arrayexpress
UnknownAddressing missing values in routine health information system data: an evaluation of imputation methods using data from the Democratic Republic of the Congo during the COVID-19 pandemic.
Not available
S-EPMC8567342 | biostudies-literature
ProteomicsDysregulation of mTOR signaling is a converging mechanism in lissencephaly
Human cerebral cortex development is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a variety of neurological cAonditions1. Lissencephaly (“smooth b...
ORGANISM(S): Homo sapiens (Human) 
2024-10-04 | PXD056364 | Pride
Mass spectrometry Lissencephaly Organoid 
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