| Year | Citation (first author) | Title (short) | Study type | Key contribution for POMT1 annotation | URL/DOI |
|---|---|---|---|---|---|
| 2023 | Koff et al. (pqac-00000018, pqac-00000040) | *Protein O-mannosylation: one sugar, several pathways, many functions* | Review | Defines POMT1/POMT2 as an obligate ER-localized O-mannosyltransferase complex using Dol-P-Man; highlights narrow known substrate scope and major open questions in substrate recognition and pathway biology. (pqac-00000018, pqac-00000040) | https://doi.org/10.1093/glycob/cwad067 (Aug 2023) (pqac-00000018) |
| 2024 | Povolo et al. (pqac-00000016, pqac-00000024, pqac-00000025) | *Global view of domain-specific O-linked mannose glycosylation in glycoengineered cells* | Proteomics / primary | Provides pathway-resolved human glycoproteomics distinguishing POMT1/2 from TMTC/TMEM260 pathways; identifies 180 O-Man glycoproteins overall and supports narrow but definable POMT1/2 substrate specificity, including α-DG, KIAA1549, and SUCO. (pqac-00000016, pqac-00000024, pqac-00000025) | https://doi.org/10.1016/j.mcpro.2024.100796 (Jul 2024) (pqac-00000016) |
| 2024 | Karas et al. (pqac-00000017, pqac-00000047) | *Removal of pomt1 in zebrafish leads to loss of α-DG glycosylation* | Model / primary | Establishes a stable zebrafish pomt1 loss-of-function model showing loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes; clarifies maternal pomt1 contribution and supports conserved in vivo POMT1 function in muscle, eye, and brain. (pqac-00000017, pqac-00000047) | https://doi.org/10.1093/hmg/ddae006 (Jan 2024) (pqac-00000017) |
| 2024 | Hord et al. (pqac-00000022) | *Matriglycan maintains t-tubule structural integrity in cardiac muscle* | Primary / mechanistic model | Links the downstream consequence of POMT1/2-dependent α-DG O-mannosylation to cardiac physiology, showing matriglycan is required to preserve cardiac t-tubule integrity under stress. (pqac-00000022) | https://doi.org/10.1073/pnas.2402890121 (May 2024) (pqac-00000022) |
| 2024 | Safwat et al. (pqac-00000027) | *Genetic blueprint of CMD with brain malformations in Egypt* | Clinical genetics | Demonstrates real-world diagnostic relevance of POMT1 in CMD/dystroglycanopathy workup; WES achieved 86% diagnostic yield in dystroglycanopathy cases and identified POMT1 among causal genes in the cohort. (pqac-00000027) | https://doi.org/10.1007/s10048-024-00745-z (Feb 2024) (pqac-00000027) |
| 2024 | Ma et al. (pqac-00000029, pqac-00000035) | *Saturation mutagenesis-reinforced functional assays* | Functional genomics / pathway-adjacent | Although applied to FKRP and LARGE1 rather than POMT1 directly, SMuRF is highly relevant to the POMT1 pathway because it provides a scalable framework for functional scoring of α-DG glycosylation-gene variants and future interpretation of POMT1 missense variants. (pqac-00000029, pqac-00000035) | https://doi.org/10.1016/j.cell.2024.08.047 (Nov 2024) (pqac-00000029) |


*Table: This table summarizes the most relevant 2023-2024 papers for annotating human POMT1, covering core biology, pathway-resolved proteomics, animal models, clinical genetics, and variant-interpretation methods. It is useful for quickly locating the strongest recent sources by study type and contribution.*