PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.395
Abstract: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with Charcot–Marie–Tooth… read more here.
Keywords: pmp22; deletion causes; gain function; exon deletion ... See more keywords
The miR-139-5p/peripheral myelin protein 22 axis modulates TGF-β-induced hepatic stellate cell activation and CCl4-induced hepatic fibrosis in mice.
Sign Up to like & getrecommendations! Published in 2021 at "Life sciences"
DOI: 10.1016/j.lfs.2021.119294
Abstract: Hepatic stellate cells (HSCs) are the major source of extracellular matrix (ECM)-producing myofibroblasts. When activated by multiple injuries, HSCs become proliferative, contractile, inflammatory and chemotactic and are characterized by enhanced ECM production, which plays a… read more here.
Keywords: mir 139; pmp22; tgf induced; activation ... See more keywords
Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-14771-5
Abstract: Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22… read more here.
Keywords: demyelinating cmt; point mutations; pmp22; hnpp like ... See more keywords
Conformational changes associated with L16P and T118M mutations in the membrane-embedded PMP22 protein, consequential in CMT-1A
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Biomolecular Structure and Dynamics"
DOI: 10.1080/07391102.2016.1234415
Abstract: Peripheral myelin protein 22 (PMP22) resides in the plasma membrane and is required for myelin formation in the peripheral nervous system. Excess PMP22 mutants accumulate in the endoplasmic reticulum (ER) resulting in the inherited neuropathies… read more here.
Keywords: protein; t118m mutations; pmp22; l16p t118m ... See more keywords
ErbB3 Control of Pmp22 Regulates Intestinal Barrier Function
Sign Up to like & getrecommendations! Published in 2023 at "Physiology"
DOI: 10.1152/physiol.2023.38.s1.5734424
Abstract: Background: ErbB3 is a member of the ErbB/EGFR family of receptor tyrosine kinases and is the constitutively-expressed neuregulin (NRG) receptor in the intestinal epithelium. Pathways downstream of ErbB3 have been implicated in regulating tight junctions… read more here.
Keywords: pmp22; barrier function; erbb3; physiology ... See more keywords
Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.00630
Abstract: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited neuropathies. The purpose of this study is to identify the clinical and genetic diversity of peripheral myelin protein 22 (PMP22) in Chinese patients… read more here.
Keywords: pmp22; clinical genetic; charcot marie; pmp22 mutations ... See more keywords
Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests
Sign Up to like & getrecommendations! Published in 2021 at "Biomolecules"
DOI: 10.3390/biom11040601
Abstract: Charcot–Marie–Tooth (CMT) type 1 disease is the most common human hereditary demyelinating neuropathy. Mutations in pmp22 cause about 70% of all CMT1. Trembler-J (TrJ/+) mice are an animal model of CMT1E, having the same spontaneous… read more here.
Keywords: anxiety; anxiety tests; peripheral neuropathy; pmp22 ... See more keywords
Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice
Sign Up to like & getrecommendations! Published in 2022 at "Biomolecules"
DOI: 10.3390/biom12030456
Abstract: Myelination of the peripheral nervous system requires Schwann cells (SC) differentiation into the myelinating phenotype. The peripheral myelin protein-22 (PMP22) is an integral membrane glycoprotein, expressed in SC. It was initially described as a growth… read more here.
Keywords: trj mice; myelin protein; pmp22; trj ... See more keywords
MiR-139-5p negatively regulates PMP22 to repress cell proliferation by targeting the NF-κB signaling pathway in gastric cancer
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Biological Sciences"
DOI: 10.7150/ijbs.40338
Abstract: Gastric cancer (GC) is one of the most common malignant tumors worldwide. Peripheral myelin protein 22 (PMP22) is a 22-kDa tetraspan glycoprotein that is predominantly expressed by myelinating Schwann cells. However, recent studies have shown… read more here.
Keywords: gastric cancer; cell proliferation; mir 139; pmp22 ... See more keywords
Inhibition of protein PMP22 enhances etoposide-induced cell apoptosis by p53 signaling pathway in Gastric Cancer
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Biological Sciences"
DOI: 10.7150/ijbs.59825
Abstract: Gastric Cancer (GC) is one of the main causes leading to death. PMP22, as a member of the GAS3 family of tetraspan proteins, it is associated with a variety of neurological diseases. Recently, more and… read more here.
Keywords: apoptosis; gastric cancer; etoposide induced; pmp22 ... See more keywords