{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMyelin protein zero (MPZ), also known as P0, is the major structural protein of peripheral myelin that plays an essential role in myelin formation and compaction. Its extracellular immunoglobulin‐like domain mediates homophilic adhesion, forming “zipper‐like” assemblies between adjacent Schwann cell membranes that contribute to the tightly stacked, double‐lined intraperiod line of compact myelin. In addition, the cytoplasmic domain influences membrane binding dynamics and, in some cases, has been shown to adopt distinct conformations under different lipid environments, thereby modulating adhesive interactions and the stability of nodal/paranodal regions. These findings are complemented by evidence that P0 interacts directly with other myelin proteins (e.g. PMP22) and with key axonal adhesion molecules, supporting its central function in regulating peripheral nerve architecture and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its structural role, MPZ contributes to the long‐term maintenance of the axo–glial unit. Alterations in MPZ expression or conformation can have consequences not only on myelin integrity but also on the organization of paranodal and nodal regions, as its interaction with neurofascins suggests. Furthermore, MPZ is emerging as an immunologically relevant self‐antigen; defects in central tolerance to MPZ have been linked to autoimmune responses against peripheral nerve myelin. Together, these studies emphasize MPZ’s multifaceted function in ensuring both the formation and preservation of myelin, as well as in modulating immune reactivity in the peripheral nervous system."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in the MPZ gene cause a diverse spectrum of inherited peripheral neuropathies, ranging from severe early‐onset demyelinating forms (such as congenital hypomyelinating neuropathy and Dejerine–Sottas syndrome) to adult‐onset axonal phenotypes and even neuropathic pain syndromes. Detailed mutational analyses, spanning missense changes, splice‐site alterations, frameshifts, and nonsense mutations, have revealed that both loss‐of‐function (including haploinsufficiency) and toxic gain‐of‐function mechanisms – such as aberrant intracellular trafficking, endoplasmic reticulum stress with consequent unfolded protein response activation, and dominant negative interference – ultimately impair the correct adhesive function of MPZ. In parallel, comprehensive evaluations in genetically and ethnically diverse cohorts have provided insights into genotype–phenotype correlations and underscored the importance of ancillary diagnostic approaches. These collective findings not only enhance our understanding of MPZ’s physiological role in myelin but also illustrate how its perturbation through various mutations leads to chronic, disabling neuropathies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "44"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Birgit Hasse, Frank Bosse, Helmut Hanenberg, et al. 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