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7 results for “SQSTM1”
SQSTM1 Purification
<p>As a result of a <a href="https://zenodo.org/record/3234159#.XRyqiuhKjct">BioID experiment</a> and literate analysis done to identify possible interaction partners of Huntingtin, SQSTM1(uniprotID: Q13501) was flagged as a putative interaction partner. This purification aims to provide a SQSTM1 sample for future experiments to confirm the possibility of an interaction between these proteins.</p>
Immunohistochemistry method for measuring autophagy flux using MAP1LC3/LC3 and SQSTM1 as core markers
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Data from: Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
Objective: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families. Methods: We used whole-exome sequencing (WES) (families 1 and 2) and a combined approach based on homozygosity mapping and WES (family 3). We performed in vitro studies to explore the effect of the nontruncating SQSTM1 mutation on protein function and the effect of impaired SQSTM1 function on autophagy. We analyzed the consequences of sqstm1 down-modulation on the structural integrity of the cerebellum in vivo using zebrafish as a model. Results: We identified 3 homozygous inactivating variants, including a splice site substitution (c.301+2T>A) causing aberrant transcript processing and accelerated degradation of a resulting protein lacking exon 2, as well as 2 truncating changes (c.875_876insT and c.934_936delinsTGA). We show that loss of SQSTM1 causes impaired production of ubiquitin-positive protein aggregates in response to misfolded protein stress and decelerated autophagic flux. The consequences of sqstm1 down-modulation on the structural integrity of the cerebellum in zebrafish documented a variable but reproducible phenotype characterized by cerebellum anomalies ranging from depletion of axonal connections to complete atrophy. We provide a detailed clinical characterization of the disorder; the natural history is reported for 2 siblings who have been followed up for >20 years. Conclusions: This study offers an accurate clinical characterization of this recently recognized neurodegenerative disorder caused by biallelic inactivating mutations in SQSTM1 and links this phenotype to defective selective autophagy.
Data from: Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
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Loss of miR-16 mediated silencing of SQSTM1 is associated with Paget's associated osteosarcoma
GEO Series GSE87018. Homo sapiens. 5 samples. Type: Non-coding RNA profiling by high throughput sequencing.
CRISPR-Cas9 screening of KSHV-transformed cells identifies XPO1 as a vulnerable target of cancer cells by inducing p62 SQSTM1-mediated p53 activation in PML bodies
GEO Series GSE125507. Rattus norvegicus. 24 samples. Type: Other.
N6-Methyladenosine reader YTHDF3 regulate Sindbis virus release by incomplete selective autophagy flux maintenance through SQSTM1
GEO Series GSE280392. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.