Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review

Ge, Yucheng; Liu, Yukun; Zhan, Ruichao; Zhao, Zhenqiang; Wang, Wenying; Tian, Ye

doi:10.1007/s12041-023-01458-2

J Genet

2024

DOI: 10.1007/s12041-023-01458-2

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Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review

Yucheng Ge,

Yukun Liu,

Ruichao Zhan

et al.

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The role of soluble adenylyl cyclase in sensing and regulating intracellular pH

Li,

Verhoeven,

Elferink

2024

Pflugers Arch - Eur J Physiol

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Soluble adenylyl cyclase (sAC) differs from transmembrane adenylyl cyclases (tmAC) in many aspects. In particular, the activity of sAC is not regulated by G-proteins but by the prevailing bicarbonate concentrations inside cells. Therefore, sAC serves as an exquisite intracellular pH sensor, with the capacity to translate pH changes into the regulation of localization and/or activity of cellular proteins involved in pH homeostasis. In this review, we provide an overview of literature describing the regulation of sAC activity by bicarbonate, pinpointing the importance of compartmentalization of intracellular cAMP signaling cascades. In addition, examples of processes involving proton and bicarbonate transport in different cell types, in which sAC plays an important regulatory role, were described in detail.

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The role of soluble adenylyl cyclase in sensing and regulating intracellular pH

Li,

Verhoeven,

Elferink

2024

Pflugers Arch - Eur J Physiol

View full text Add to dashboard Cite

show abstract

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Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review

Cited by 1 publication

References 23 publications

The role of soluble adenylyl cyclase in sensing and regulating intracellular pH

The role of soluble adenylyl cyclase in sensing and regulating intracellular pH

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