Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report

Mammalian oocyte activation is driven by intracellular calcium (Ca2+) oscillations induced by sperm-specific phospholipase C zeta (PLCζ). Sperm PLCζ deficiency is linked to male infertility caused by oocyte activation deficiency. Using whole exome sequencing, we report finding a previously reported...

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Hlavní autoři:	Junaid Kashir, Sateesh Maddirevula, Meshael Aldeery, Gihan Daw Elbait, Khushnooda Ramzan, Bhavesh V Mistry, Wafa Qubbaj, Michail Nomikos, Hamdan Hamdan, Saad Alhassan, Abdullah M Assiri, Serdar Coskun
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Bioscientifica 2026-03-01
Edice:	Reproduction and Fertility
Témata:	phospholipase c zeta (plcζ) oocyte activation fertilisation infertility mutation sperm
On-line přístup:	https://raf.bioscientifica.com/view/journals/raf/7/1/RAF-25-0085.xml
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