Globozoospermia: A Case Report and Systematic Review of Literature [PDF]
The World Journal of Men's Health, 2023 Purpose: Globozoospermia is a genetic syndrome characterized by the presence of round-headed spermatozoa and infertility due to the inability of these spermatozoa to fertilize the oocyte.
Andrea Crafa +4 more
doaj +5 more sources
Atypical structure of the nuclear membrane, distribution of nuclear pores and lamin B1 in spermatozoa of patients with complete and partial globozoospermia [PDF]
Frontiers in GeneticsGlobozoospermia is a form of male infertility characterized by spermatozoa with spherical heads lacking acrosomes. The aim of this study was to evaluate ultrastructural and molecular defects in different types of globozoospermia.
Elizaveta Bragina +14 more
doaj +2 more sources
A loss-of-function variant in SSFA2 causes male infertility with globozoospermia and failed oocyte activation [PDF]
Reproductive Biology and Endocrinology, 2022 Globozoospermia (OMIM: 102530) is a rare type of teratozoospermia ( A; p.R1224Q) in the patient. This variant significantly reduced the protein expression of SSFA2.
Gelin Huang +11 more
doaj +2 more sources
Phospholipase Cζ, the Molecular Spark of Fertilization and Male Infertility: Insights from Bench to Bedside [PDF]
MedicinaPhospholipase C zeta (PLCζ) has emerged as a pivotal sperm-specific factor responsible for triggering oocyte activation, a process essential for successful fertilization and early embryogenesis.
Aris Kaltsas +6 more
doaj +2 more sources
ELAPOR1 mediated vesicle traffic is required for acrosome biogenesis and male fertility in mice [PDF]
Cellular and Molecular Life SciencesSpermiogenesis is the post-meiotic differentiation and morphological change of the haploid spermatids. Acrosome biogenesis is one of the key events of spermiogenesis, which generates a specialized membranous organelle crucial for shaping the balanced ...
Runze Ding +7 more
doaj +2 more sources
PDCL2 is essential for sperm acrosome formation and male fertility in mice. [PDF]
Andrology, 2023 BACKGROUND: Each year, infertility affects 15% of couples worldwide, with 50% of cases attributed to men. Globozoospermia is an uncommon cause of male factor infertility, characterized by defects in sperm acrosome formation, leading to round-headed ...
Fujihara Y +6 more
europepmc +3 more sources
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia. [PDF]
Cell Mol Life SciLoss-of-function variants in ATP6V0A2, encoding the trans Golgi V-ATPase subunit V0a2, cause wrinkly skin syndrome (WSS), a connective tissue disorder with glycosylation defects and aberrant cortical neuron migration.
Kopp J +18 more
europepmc +7 more sources
Immunofluorescence and High-Resolution Microscopy Reveal New Insights in Human Globozoospermia. [PDF]
Int J Mol Sci, 2022 Globozoospermia is a rare and severe type of teratozoospermia characterized by the presence of round-headed, acrosomeless spermatozoa with cytoskeleton defects.
Sáez-Espinosa P +4 more
europepmc +3 more sources
Protein disulfide isomerase A6 (PDIA6) is essential for acrosome biogenesis and male fertility in mice [PDF]
Cell Communication and SignalingBackground The family of protein disulfide isomerases (PDIs) are thiol oxidoreductases located predominantly in the endoplasmic reticulum that catalyze thiol-disulfide exchange for normal protein folding.
Xiaofeng Yan +6 more
doaj +2 more sources
Reduction of truncated Kit Expression in Men with Abnormal Semen Parameters, Globozoospermia and History of Low or Fertilization Failure [PDF]
Cell Journal, 2019 Objective: Phospholipase C zeta 1 (PLCζ) is one of the main sperm factor involved in oocyte activation and other factors may assist this factor to induce successful fertilization. Microinjection of recombinant tr-kit, a truncated form of c-kit receptor,
Somayeh Haghighat +5 more
doaj +3 more sources