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ProteomicsO-mannosylation and protein maturation checkpoints represent therapeutic opportunities in BRAF fusion protein oncogenesis
Fusions between protein-coding genes are common oncogenic drivers across cancers, typically pairing a proto-oncogene with a partner that does not independently drive cancer. In all therapeutically actionable fusions, the proto-oncogene is the drug target, the contributions to oncogenicity of the fus...
ORGANISM(S): Homo sapiens (Human) 
2026-08-02 | PXD078059 | Pride
O-mannosylation Pomt1/2 Kiaa1549 Braf Fusion Oncogenesis 
ProteomicsCHO O-Mannosylation independent of POMT1/2
Protein O-mannosylation is found in yeast and metazoans and a family of conserved orthologous polypeptide O-mannosyltransferases is believed to initiate this important posttranslational modification. We recently discovered that the large families of cadherins and protocadherins carry highly conserve...
ORGANISM(S): Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) 
2017-05-18 | PXD004341 | Pride
Mannose Glycoproteomics O-mannosyltransferase O-glycosylation 
ProteomicsHuman O-Mannosylation independent of POMT1/2
Protein O-mannosylation is found in yeast and metazoans and a family of conserved orthologous polypeptide O-mannosyltransferases is believed to initiate this important posttranslational modification. We recently discovered that the large families of cadherins and protocadherins carry highly conserve...
ORGANISM(S): Homo sapiens (Human) 
2017-05-18 | PXD004358 | Pride
O-glycosylation Glycoproteomics O-mannose Mannosyltransferase 
UnknownSarcolemma resilience and skeletal muscle health require O-mannosylation of dystroglycan.
Not available
S-EPMC11715199 | biostudies-literature
GenomicsCircular RNA CpG Island Hypermethylation-Associated Silencing in Human Cancer
Although less than 2% of the human genome code for proteins, most studies in cancer research has focused in this small portion of our DNA. However, it has been recognized in the last years that non-coding RNAs (ncRNAs) also participate in cellular transformation. In this context, microRNAs and long ...
ORGANISM(S): Homo sapiens 
2018-06-13 | GSE109676 | GEO
UnknownIncreased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome.
Not available
S-EPMC2903483 | biostudies-literature
UnknownExpression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.
Not available
S-EPMC4911909 | biostudies-literature
UnknownClinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Not available
S-EPMC7674836 | biostudies-literature
UnknownFounder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.
Not available
S-EPMC2735827 | biostudies-literature
UnknownNovel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
Not available
S-EPMC3405532 | biostudies-literature
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