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GenomicsPSMF1 Gene Sequencing Project
PSMF1 gene sequences in a Southern Italian cohort of Parkinson’s disease patients
PRJEB114488 | ENA
ProteomicsPSMF1 variants cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial pathways
Dissecting biopathways unveiled by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson’s disease (PD) and neurodegeneration, hence catalyzing the identification of potential biomarkers and therapeutic targets. Here, we identify PSMF1 as a new gene implicated in...
ORGANISM(S): Homo sapiens (Human) 
2026-03-03 | PXD053147 | Pride
Parkinson's disease Psmf1 Neurodegeneration 
UnknownVariants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Not available
S-EPMC11326324 | biostudies-literature
UnknownPotentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival.
Not available
S-EPMC8410895 | biostudies-literature
ProteomicsHAPI31-IP-MS, containing PI31 truncations and Parkinson's associated variants, with or without FBXO7
Triplicate HA-Immunoprecipitations of HA-tagged PI31 variants including full length (1-271), FP domain (1-151) and Parkinson's associated sequence variants, L53M, L228V, R231X(1-230), R242G, R242C, overexpressed in FBXO7-/- PSMF1-/- HEK293T cells co-overexpressed with full length FBXO7(1-522), or wi...
ORGANISM(S): Homo sapiens (Human) 
2026-06-22 | PXD077016 | Pride
Fbxo7 Parkinson's disease Human Keywords: pi31 Ip-ms 
ProteomicsFLAG-IP, FLAG-FBXO7 samples with either full-length or C-terminally truncated FBXO7 expressed with or without PI31 present
Triplicate FLAG-Immunoprecipitations of FLAG-tagged FBXO7 overexpressed in FBXO7-/- PSMF1-/- HEK293T cells co-overexpressed with full length PI31(1-271), PI31∆PRR (1-151), or without PI31 (empty vector). wild type HEK293T containing FLAG-tagged eGFP samples represent a negative control IP Identities...
ORGANISM(S): Homo sapiens (Human) 
2026-06-22 | PXD077448 | Pride
Parkinson's disease Human Ip-ms Fbxo7 Pi31 
ProteomicsFLAG-IP, FLAG-FBXO7 samples with domain deletions of FBXO7 variants, with or without FBXO7
Triplicate FLAG-Immunoprecipitations of FLAG-tagged FBXO7 constructs (full length (1-522), ∆N (169-522), ∆C (1-406), and ∆N∆C (169-406)) overexpressed in FBXO7-/- PSMF1-/- HEK293T cells. FBXO7∆N∆C co-overexpressed with full length PI31(1-271) is also included. Parental cells lacking tagged FBXO7 are...
ORGANISM(S): Homo sapiens (Human) 
2026-06-22 | PXD077028 | Pride
Parkinson's disease Human Ip-ms Fbxo7 
UnknownGenome-Wide Association Analysis of Neonatal White Matter Microstructure.
Not available
S-EPMC7786356 | biostudies-literature
UnknownPrognostic Ability of Enhancer RNAs in Metastasis of Non-Small Cell Lung Cancer.
Not available
S-EPMC9268450 | biostudies-literature
UnknownIdentification and Characterization of the Copy Number Dosage-Sensitive Genes in Colorectal Cancer.
Not available
S-EPMC7390836 | biostudies-literature
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