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Sirtuin 6 (SIRT6) is a deacylase and mono-ADP ribosyl transferase (mADPr) enzyme involved in multiple cellular pathways implicated in the regulation of aging and metabolism. Targeted sequencing identified a SIRT6 allele containing two linked substitutions (N308K/A313S) as enriched in Ashkenazi Jewis...
ORGANISM(S): Homo sapiens (Human) 
2022-10-21 | PXD035689 | Pride
Alzheimers disease and epilepsy are reciprocally related. Among sporadic AD patients, seizures occur in 10-22 percent, and subclinical epileptiform abnormalities occur in 22-5 percent. Cognitive deficits, with prominent short-term memory impairments, occur in most epilepsy patients. Common neurophys...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-02-27 | MSV000091370 | MassIVE
Oncogenic mutations within the RAS pathway are common in multiple myeloma (MM), an incurable malignancy of plasma cells. However, the mechanisms of pathogenic RAS signaling in this disease remain enigmatic and difficult to inhibit therapeutically. We employed an unbiased proteogenomic approach to ...
ORGANISM(S): Homo sapiens (Human) 
2022-10-14 | PXD031662 | Pride
Accumulation of phosphorylated tau is a key pathological feature of Alzheimers disease. Phosphorylated tau accumulation causes synaptic impairment, neuronal dysfunction and formation of neurofibrillary tangles. The pathological actions of phosphorylated tau are mediated by surrounding neuronal prote...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-04-17 | MSV000085305 | MassIVE
Tau phosphorylation and aggregation are pathological features of Alzheimers disease. Tau phosphorylated at threonine 217 (pT217) and threonine 231 (pT231) are early fluid biomarkers of Alzheimers disease, suggesting early involvement in disease. However, little is known about the specific actions of...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2024-11-11 | MSV000096377 | MassIVE
Sudden unexplained death in childhood (SUDC) is death of a child 12 months old that is unexplained after autopsy and detailed analyses. Among SUDC cases, 28.8% have febrile seizure (FS) history, versus 2-5% in the general population. SUDC cases share features with sudden unexpected death in epilepsy...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2024-08-12 | MSV000095576 | MassIVE
Adult hippocampal neurogenesis is important for certain forms of cognition and failing neurogenesis has been implicated in neuropsychiatric diseases. The neurogenic capacity of hippocampal neural stem/progenitor cells (NSPCs) depends on a balance between quiescent and proliferative states. However, ...
ORGANISM(S): Mus musculus (Mouse) 
2019-11-15 | PXD005598 | Pride
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