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Recent data strongly suggest HTT CAG repeat expansion drives Huntington’s disease (HD) pathogenesis and that disease development is modulated by components of the DNA damage response (DDR) pathway. FAN1 has been identified as a major HD modifier which slows expansion of the HTT CAG repeat in several...
ORGANISM(S): Homo sapiens (Human) 
2022-02-16 | PXD023221 | Pride
Acetobacter orientalis genome
The proteins interacting with GFP-tagged FAN1expressed in HELK293 cells were identified by immunoprecipitation followed by mass spectrometry.
ORGANISM(S): Homo sapiens (Human) 
2026-01-29 | PXD065101 | Pride
Genomics
FAN1 sequencing
FAN1 is a DNA endonuclease that we have previously identified as the underlying genetic cause of karyomegalic interstitial nephritis (OMIM: 614817) in humans. In order to deduce the molecular function of FAN1 in the setting of acute kidney injury and progression to chronic kidney disease, we generat...
ORGANISM(S): Mus musculus 
2023-05-03 | GSE163862 | GEO
RNA-seq analysis of proximal tubule specific Fan1 knockout transgenic kidneys subjected to cisplatin injury
Triplet repeat expansions underlie multiple pathologies, including Huntington’s disease, often aris-ing in somatic non-dividing tissues such as the brain. Despite identification of genetic modifiers, mechanistic insights remain limited. Using purified human proteins, we show that MutL (MLH1-MLH3), ...
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