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ProteomicsStructure of ATTRv-F64S fibrils isolated from skin tissue of a living patient
Transthyretin-derived amyloidosis (ATTR) is a degenerative, systemic disease characterized by transthyretin fibril deposition in organs like the heart, kidneys, liver, and skin. We report the first cryo-EM structure of transthyretin fibrils isolated from skin tissue of a living patient with a rare g...
ORGANISM(S): Homo sapiens (Human) 
2025-11-03 | PXD065685 | Pride
Attr Cryo-em Diagnostic tool Mass spectrometry Transthyretin Amyloidosis 
UnknownUnaligned multi-frame micrographs of the mu opioid receptor bound to a nanobody antagonist NbE
Not available
EMPIAR-12323 | biostudies-other
UnknownA phosphate-binding pocket in cyclin B3 is essential for XErp1/Emi2 degradation in meiosis I
Not available
S-SCDT-10_1038-S44319-024-00347-8 | biostudies-other
ProteomicsINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009297 | Pride
L-serine Inpp5k Bip Phgdh Sil1 
ProteomicsINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009272 | Pride
L-serine Inpp5k Bip Phgdh Sil1 
GenomicsGermline variants in the SEMA4A gene predispose to familial colorectal cancer type X
Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here, using an integrative genomics strategy, we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX. ...
EGAS00001000957 | EGA
Genomicsena-DATASET-MUG-11-09-2014-07:42:30:338-15 - samples
Exome sequencing of peripheral blood from 4 individuals of a family with familial colorectal cancer type X
EGAD00001001009 | EGA
Genomicsena-DATASET-MUG-11-09-2014-07:45:47:901-16 - samples
Sequencing of colorectal tumors and normal tissue using Ion AmpliSeq Cancer Hotspot Panel V2
EGAD00001001010 | EGA
GenomicsDAC CTC - Plasma-DNA
Data Access Committee EGAC00001000072
EGAC00001000072 | EGA
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