{"doi":"10.1093/jmcb/mjad029","title":"CMT2D neuropathy is influenced by vitamin D-mediated environmental pathway","abstract":"CMT2D neuropathy is influenced by vitamin D-mediated environmental pathway Dear Editor,Peripheral neuropathy is a group of devastating diseases affecting peripheral nerves and may cause symptoms such as extreme numbness, muscle weakness, and paralysis.Currently, there are no effective therapies for these diseases.Great progress has been made in identifying genetic causes for peripheral neuropathy owing to the advances in genetic testing in the last decade.For example, >100 genes have been identified to be associated with Charcot-Marie-Tooth (CMT) neuropathy, a group of disorders among the most common forms of inherited peripheral neuropathy.GARS, encoding glycyl-tRNA synthetase (GlyRS), was the first member identified in the family of aminoacyl-tRNA synthetases, the largest gene family implicated in CMT (Patzko and Shy, 2011).Although GARS is ubiquitously expressed in all cells, mutations in this gene cause a dominant axonal form of CMT, termed CMT type 2D (CMT2D), leading to the degeneration of peripheral axons and consequent deficits in distal motor and sensory functions (Antonellis et al., 2003).Our previous studies have demonstrated that CMT2D-associated mutations alter the conformation of GlyRS, enabling mutant GlyRS (GlyRS CMT2D ) to bind to the Nrp1 receptor and disrupt the vascular endothelial growth factor (VEGF)/Nrp1 pathway (He et al., 2015).VEGF is best known for its essential role in blood vessel growth.However, many lines of evidence suggest that VEGF also protects","journal":"Journal of Molecular Cell Biology","year":2023,"id":383230,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9537,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1150410,"name":"Mingmin Tang","orcid":null,"position":1,"is_corresponding":false},{"id":1150072,"name":"Hualin Yu","orcid":"0000-0002-1105-3867","position":2,"is_corresponding":false},{"id":305687,"name":"Tong‐Fei Liu","orcid":"0000-0002-3553-6871","position":3,"is_corresponding":false},{"id":1150411,"name":"Qinqin Cui","orcid":null,"position":4,"is_corresponding":false},{"id":1150412,"name":"Linfan Gu","orcid":null,"position":5,"is_corresponding":false},{"id":590183,"name":"Zhi‐Ying Wu","orcid":"0000-0003-2106-572X","position":6,"is_corresponding":false},{"id":1150073,"name":"Nengyin Sheng","orcid":"0000-0003-3086-3950","position":7,"is_corresponding":false},{"id":479459,"name":"Xiang‐Lei Yang","orcid":"0000-0003-2554-084X","position":8,"is_corresponding":false},{"id":430977,"name":"Linghui Zeng","orcid":"0000-0002-5924-4419","position":9,"is_corresponding":false},{"id":1150074,"name":"Ge Bai","orcid":"0000-0001-9319-039X","position":10,"is_corresponding":false},{"id":1150071,"name":"Huaqing Liu","orcid":"0000-0001-7723-9309","position":0,"is_corresponding":true}],"reference_count":11,"raw_metadata":null,"created_at":"2026-07-19T01:17:25.158896Z","pmid":"37118880","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}