Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15(6):369–84.

Article  CAS  PubMed  Google Scholar 

Aston KI. Genetic susceptibility to male infertility: news from genome-wide association studies. Andrology. 2014;2(3):315–21.

Article  CAS  PubMed  Google Scholar 

Agarwal A, Baskaran S, Parekh N, Cho CL, Henkel R, Vij S, et al. Male infertility. Lancet. 2021;397(10271):319–33.

Article  PubMed  Google Scholar 

Male infertility. Nat Rev Dis Primers 2023, 9(1):50.

Bhattacharya I, Sharma SS, Majumdar SS. Etiology of male infertility: an update. Reprod Sci. 2024;31(4):942–65.

Article  CAS  PubMed  Google Scholar 

De Braekeleer M, Nguyen MH, Morel F, Perrin A. Genetic aspects of monomorphic teratozoospermia: a review. J Assist Reprod Genet. 2015;32(4):615–23.

Article  PubMed  PubMed Central  Google Scholar 

Arora M, Mehta P, Sethi S, Anifandis G, Samara M, Singh R. Genetic etiological spectrum of sperm morphological abnormalities. J Assist Reprod Genet. 2024;41(11):2877–929.

Article  PubMed  Google Scholar 

Ray PF, Toure A, Metzler-Guillemain C, Mitchell MJ, Arnoult C, Coutton C. Genetic abnormalities leading to qualitative defects of sperm morphology or function. Clin Genet. 2017;91(2):217–32.

Article  CAS  PubMed  Google Scholar 

Chemes EH, Rawe YV. Sperm pathology: a step beyond descriptive morphology. Origin, characterization and fertility potential of abnormal sperm phenotypes in infertile men. Hum Reprod Update. 2003;9(5):405–28.

Article  PubMed  Google Scholar 

Mehta RH, Sridhar H, Vijay Kumar BR, Anand Kumar TC. High incidence of oligozoospermia and teratozoospermia in human semen infected with the aerobic bacterium Streptococcus faecalis. Reprod Biomed Online. 2002;5(1):17–21.

Article  CAS  PubMed  Google Scholar 

Xianchun F, Jun F, Zhijun D, Mingyun H. Effects of Ureaplasmaurealyticum infection on semen quality and sperm morphology. Front Endocrinol (Lausanne). 2023;14:1113130.

Article  PubMed  Google Scholar 

Cannarella R, Shah R, Hamoda TAA, Boitrelle F, Saleh R, Gul M, et al. Does varicocele repair improve conventional semen parameters? A meta-analytic study of before-after data. World J Mens Health. 2024;42(1):92–132.

Article  PubMed  Google Scholar 

Wdowiak N, Wojtowicz K, Wdowiak-Filip A, Pucek W, Wrobel A, Wrobel J, et al. Environmental factors as the main hormonal disruptors of male fertility. J Clin Med. 2024. https://doi.org/10.3390/jcm13071986.

Article  PubMed  PubMed Central  Google Scholar 

Mehdi M, Gmidene A, Brahem S, Guerin JF, Elghezal H, Saad A. Aneuploidy rate in spermatozoa of selected men with severe teratozoospermia. Andrologia. 2012;44(Suppl 1):139–43.

Article  PubMed  Google Scholar 

Lin YH, Wang YY, Lai TH, Teng JL, Lin CW, Ke CC, et al. Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects. J Cell Mol Med. 2024;28(2):e18031.

Article  CAS  PubMed  Google Scholar 

Li Y, Wang Y, Wen Y, Zhang T, Wang X, Jiang C, et al. Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects. Hum Reprod. 2021;37(1):152–77.

Article  CAS  PubMed  Google Scholar 

Harris A, Morgan JI, Pecot M, Soumare A, Osborne A, Soares HD. Regenerating motor neurons express Nna1, a novel ATP/GTP-binding protein related to zinc carboxypeptidases. Mol Cell Neurosci. 2000;16(5):578–96.

Article  CAS  PubMed  Google Scholar 

Rogowski K, van Dijk J, Magiera MM, Bosc C, Deloulme JC, Bosson A, et al. A family of protein-deglutamylating enzymes associated with neurodegeneration. Cell. 2010;143(4):564–78.

Article  CAS  PubMed  Google Scholar 

Berezniuk I, Vu HT, Lyons PJ, Sironi JJ, Xiao H, Burd B, et al. Cytosolic carboxypeptidase 1 is involved in processing alpha- and beta-tubulin. J Biol Chem. 2012;287(9):6503–17.

Article  CAS  PubMed  Google Scholar 

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, et al. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J. 2018. https://doi.org/10.15252/embj.2018100540.

Article  PubMed  PubMed Central  Google Scholar 

Mullen RJ, Eicher EM, Sidman RL. Purkinje cell degeneration, a new neurological mutation in the mouse. Proc Natl Acad Sci U S A. 1976;73(1):208–12.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Landis SC, Mullen RJ. The development and degeneration of Purkinje cells in pcd mutant mice. J Comp Neurol. 1978;177(1):125–43.

Article  CAS  PubMed  Google Scholar 

Fernandez-Gonzalez A, La Spada AR, Treadaway J, Higdon JC, Harris BS, Sidman RL, et al. Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science. 2002;295(5561):1904–6.

Article  CAS  PubMed  Google Scholar 

Magiera MM, Bodakuntla S, Ziak J, Lacomme S, Marques Sousa P, Leboucher S, Hausrat TJ, Bosc C, Andrieux A, Kneussel M et al: Excessive tubulin polyglutamylation causes neurodegeneration and perturbs neuronal transport. The EMBO journal 2018, 37(23).

Strzyz P. Neurodegenerative polyglutamylation. Nat Rev Mol Cell Biol. 2019;20(1):1.

Article  CAS  PubMed  Google Scholar 

Kim N, Xiao R, Choi H, Jo H, Kim JH, Uhm SJ, et al. Abnormal sperm development in pcd(3J)-/- mice: the importance of Agtpbp1 in spermatogenesis. Mol Cells. 2011;31(1):39–48.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang YY, Ke CC, Chen YL, Lin YH, Yu IS, Ku WC, et al. Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice. PLoS Genet. 2020;16(9):e1009020.

Article  CAS  PubMed  PubMed Central  Google Scholar 

WHO: WHO laboratory manual for the examination and processing of human semen, Fifth edn: WHO; 2010

Pan PY, Ke CC, Wang YY, Lin YH, Ku WC, Au CF, et al. Proteomic profiling of TBC1 domain family member 21-null sperms reveals the critical roles of TEKT 1 in their tail defects. Dev Dyn. 2024;253(11):1024–35.

Article  CAS  PubMed  Google Scholar 

Dunleavy JEM, O’Bryan MK, Stanton PG, O’Donnell L. The cytoskeleton in spermatogenesis. Reproduction. 2019;157(2):R53–72.

Article  CAS  PubMed  Google Scholar 

Tang S, Wang X, Li W, Yang X, Li Z, Liu W, et al. Biallelic mutations in CFAP43 and CFAP44 cause male infertility with multiple morphological abnormalities of the sperm flagella. Am J Hum Genet. 2017;100(6):854–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, et al. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Nat Commun. 2018;9(1):686.

Article  PubMed  PubMed Central  Google Scholar 

Baltanas FC, Berciano MT, Santos E, Lafarga M. The childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) disease caused by AGTPBP1 gene mutations: the Purkinje cell degeneration mouse as an animal model for the study of this human disease. Biomedicines. 2021. https://doi.org/10.3390/biomedicines9091157.

Article  PubMed  PubMed Central