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UnknownDeletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors.
Not available
S-EPMC9738688 | biostudies-literature
UnknownReporting one very rare pathogenic variation c.1106G>A in POMT2 gene.
Not available
S-EPMC7263986 | biostudies-literature
UnknownNovel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.
Not available
S-EPMC11921505 | biostudies-literature
UnknownNovel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
Not available
S-EPMC3953896 | biostudies-literature
UnknownA POMT2 missense substitution contributes to hypoxia adaptation in hibernating mammals.
Not available
S-EPMC12866921 | biostudies-literature
UnknownDemonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
Not available
S-EPMC327176 | biostudies-literature
UnknownCystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
Not available
S-EPMC6205885 | biostudies-literature
ProteomicsTruncated N-glycans destabilize POMT1 and POMT2 but do not limit cellular O-mannosylation in HEK293 cells
Protein O-mannosylation is initiated by the ER-resident enzymes POMT1 and POMT2, both of which carry multiple N-glycans essential for proper folding and activity. Although congenital disorders of glycosylation type I (CDG-I) disrupt the early N-glycosylation process, their impact on POMT biogenesis ...
ORGANISM(S): Homo Sapiens 
PXD073179 | panorama
ProteomicsGlobal view of domain-specific O-linked mannose glycosylation in glycoengineered cells
Protein O-linked mannose (O-Man) glycosylation is an evolutionary conserved post-translational modification, whose biosynthesis is initiated by three non-redundant enzyme families, POMT1/POMT2, TMTC1-4 and TMEM260. In this study, we applied a targeted workflow for membrane glycoproteomics to five hu...
ORGANISM(S): Homo sapiens (Human) 
2024-06-10 | PXD045597 | Pride
Lc-msms O-man Glycoproteomics Ptm Glycobiology O-mannose 
Methylation profilingPotential Roles of IGF2BP3 in Bladder Cancer [m6A-seq]
TCGA data analysis and clinical sample test results showed the IGF2BP3 is highly expressed in bladder cancer and related to tumor metastasis and invasion. RNA sequencing results of clinical bladder tissue from 53 cases showed that the IGF2BP3 expression is related to cell proliferation genes. M6a an...
ORGANISM(S): Homo sapiens 
2024-03-27 | GSE171023 | GEO
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