Berger P, Niemann A, Suter U (2006) Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia 54:243–257

Article  Google Scholar 

Rossor AM, Tomaselli PJ, Reilly MM (2016) Recent advances in the genetic neuropathies. Curr Opin Neurol 29:537–548

CAS  Article  Google Scholar 

Storkebaum E (2016) Peripheral neuropathy via mutant tRNA synthetases: inhibition of protein translation provides a possible explanation. BioEssays 3:818–829

Article  Google Scholar 

Boczonadi V, Jennings MJ, Horvath R (2018) The role of tRNA synthetases in neurological and neuromuscular disorders. FEBS Lett 592:703–717

CAS  Article  Google Scholar 

Fridman V, Saporta MA (2021) Mechanisms and treatments in demyelinating CMT. Neurotherapeutics. https://doi.org/10.1007/s13311-021-01145-z

Miniou P, Fontes M (2021) Therapeutic development in Charcot-Marie Tooth type 1 disease. Int J Mol Sci 22:6755

CAS  Article  Google Scholar 

Vester A, Velez-Ruiz G, McLaughlin HM, Comparative Sequencing Program NISC, Lupski JR, Talbot K, Vance JM, Zuchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A (2013) A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat 34:191–199

CAS  Article  Google Scholar 

Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J (2015) Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain 138:2161–2172

Article  Google Scholar 

Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C (2018) Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat 39:415–432

CAS  Article  Google Scholar 

Royer-Bertrand B, Tsouni P, Mullen P, Campos Xavier B, Mittaz Crettol L, Lobrinus AJ, Ghika J, Baumgartner MR, Rivolta C, Superti-Furga A, Kuntzer T, Francklyn C, Tran C (2019) Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant. Ann Clin Transl Neurol 6:1072–1080

Article  Google Scholar 

Galatolo D, Kuo ME, Mullen P, Meyer-Schuman R, Doccini S, Battini R, Lieto M, Tessa A, Filla A, Francklyn C, Antonellis A, Santorelli FM (2020) Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. Hum Mutat 41:1232–1237

CAS  Article  Google Scholar 

Padilha JPD, Brasil CS, Hoefel AML, Winckler PB, Donis KC, Brusius-Facchin AC, Saute J (2020) Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies. Clin Genet 98:185–190

CAS  Article  Google Scholar 

Waldron A, Wilcox C, Francklyn C, Ebert A (2019) Knock-down of histidyl-tRNA synthetase causes cell cycle arrest and apoptosis of neuronal progenitor cells in vivo. Front Cell Dev Biol 7:67

Article  Google Scholar 

Meyer-Schuman R, Antonellis A (2021) Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy. FEBS J 288:91–94

CAS  Article  Google Scholar 

Mullen P, Abbott JA, Wellman T, Aktar M, Fjeld C, Demeler B, Ebert AM, Francklyn C (2021) Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish. FEBS J 288:142–159

CAS  Article  Google Scholar 

Nam DE, Park JH, Park CE, Jung NY, Nam SH, Kwon HM, Kim HS, Kim SB, Son WS, Choi BO, Chung KW (2022) Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: a Korean cohort study. J Peripher Nerv Syst. https://doi.org/10.1111/jns.12476

Yamauchi J, Torii T, Kusakawa S, Sanbe A, Nakamura K, Takashima S, Hamasaki H, Kawaguchi S, Miyamoto Y, Tanoue A (2010) The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway. J Neurosci Res 88:3189–3197

CAS  Article  Google Scholar 

Tatsumi Y, Matsumoto N, Iibe N, Watanabe N, Torii T, Sango K, Homma K, Miyamoto Y, Sakagami H, Yamauchi J (2019) CMT type 2 N disease-associated AARS mutant inhibits neurite growth that can be reversed by valproic acid. Neurosci Res 139:69–78

CAS  Article  Google Scholar 

de Corrales LR, Losada-Pérez T, Casas-Tintó M (2021) JNK pathway in CNS pathologies. Int J Mol Sci 22:3883

Article  Google Scholar 

Ryan MC, Shooter EM, Notterpek L (2002) Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations. Neurobiol Dis 10:109–118

CAS  Article  Google Scholar 

Liu N, Yamauchi J, Shooter EM (2004) Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking. Neurobiol Dis 17:300–309

CAS  Article  Google Scholar 

Sha Y, Pandit L, Zeng S, Eissa NT (2009) A critical role for CHIP in the aggresome pathway. Mol Cell Biol 29:116–128

CAS  Article  Google Scholar 

Magupalli VG, Negro R, Tian Y, Hauenstein AV, Di Caprio G, Skillern W, Deng Q, Orning P, Alam HB, Maliga Z, Sharif H, Hu JJ, Evavold CL, Kagan JC, Schmidt FI, Fitzgerald KA, Kirchhausen T, Li Y, Wu H (2020) HDAC6 mediates an aggresome-like mechanism for NLRP3 and pyrin inflammasome activation. Science 369:eaas8995

Musier-Forsyth K (2019) Aminoacyl-tRNA synthetases and tRNAs in human disease: an introduction to the JBC reviews thematic series. J Biol Chem 294:5292–5293

CAS  Article  Google Scholar 

Wei N, Zhang Q, Yang XL (2019) Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases. J Biol Chem 294:5321–5339

CAS  Article  Google Scholar 

Zhang H, Zhou ZW, Sun L (2021) Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: a gain or a loss? J Neurochem 157:351–369

CAS  Article  Google Scholar 

Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K (2021) Four pedigrees with aminoacyl-tRNA synthetase abnormalities. Neurol Sci. https://doi.org/10.1007/s10072-021-05626-z

Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JLP, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou Y-M, Vanderver A (2015) Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet 96:675–681

CAS  Article  Google Scholar 

Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W (2021) Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Hum Mol Genet 30:1711–1720

CAS  Article  Google Scholar 

Matsumoto N, Watanabe N, Iibe N, Tatsumi Y, Hattori K, Takeuchi Y, Oizumi H, Ohbuchi K, Torii T, Miyamoto Y, Yamauchi J (2019) Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation. Biochem Biophys Rep 20:100705

PubMed  PubMed Central  Google Scholar 

Sawaguchi S, Goto M, Kato Y, Tanaka M, Tago K, Oizumi H, Ohbuchi K, Mizoguchi K, Miyamoto Y, Yamauchi J (2021) Hypomyelinating leukodystrophy 15 (HLD15)-associated mutation of EPRS1 leads to its polymeric aggregation in Rab7-positive vesicle structures, inhibiting oligodendroglial cell morphological differentiation. Polymers 13:1074

He W, Bai G, Zhou H, Wei N, White NM, Lauer J, Liu H, Shi Y, Dumitru CD, Lettieri K, Shubayev V, Jordanova A, Guergueltcheva V, Griffin PR, Burgess RW, Pfaff SL, Yang XL (2015) CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase. Nature 526:710–714

CAS  Article  Google Scholar 

Grice SJ, Sleigh JN, Motley WW, Liu JL, Burgess RW, Talbot K, Cader MZ (2015) Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology. Hum Mol Genet 24:4397–4406

CAS  Article  Google Scholar 

Sleigh JN, Gómez-Martín A, Wei N, Bai G, Yang XL, Schiavo G (2017) Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasis. Sci Rep 7:9216

Article  Google Scholar 

Mo Z, Zhao X, Liu H, Hu Q, Chen XQ, Pham J, Wei N, Liu Z, Zhou J, Burgess RW, Pfaff SL, Caskey CT, Wu C, Bai G, Yang XL (2018) Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy. Nat Commun 9:1007

Article  Google Scholar 

Takeuchi Y, Tanaka M, Okura N, Fukui Y, Noguchi K, Hayashi Y, Torii T, Ooizumi H, Ohbuchi K, Mizoguchi K, Miyamoto Y, Yamauchi J (2020) Rare neurologic disease-associated mutations of AIMP1 are related with inhibitory neuronal differentiation which is reversed by ibuprofen.Medicines 7:25

Lee DD, Hochstetler A, Sah E, Xu H, Lowe C-H, Santiaguel S, Thornton JL, Pajakowski A, Margaret A, Schwarz MA (2020) Influence of aminoacyl-tRNA synthetase complex-interacting multifunctional protein 1 on epithelial differentiation and organization during lung development. Am J Physiol Lung Cell Mol Physiol 319:L369–L379

CAS  Article  Google Scholar 

Giavini E, Menegola E (2014) Teratogenic activity of HDAC inhibitors. Curr Pharm Des 20:5438–5442

CAS  Article  Google Scholar