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@ARTICLE{Schlusche:162815,
author = {Schlusche, Anna Katharina and Vay, Sabine Ulrike and
Kleinenkuhnen, Niklas and Sandke, Steffi and Campos-Martín,
Rafael and Florio, Marta and Huttner, Wieland and Tresch,
Achim and Roeper, Jochen and Rueger, Maria Adele and
Jakovcevski, Igor and Stockebrand, Malte and Isbrandt, Dirk},
title = {{D}evelopmental {HCN} channelopathy results in decreased
neural progenitor proliferation and microcephaly in mice.},
journal = {Proceedings of the National Academy of Sciences of the
United States of America},
volume = {118},
number = {35},
issn = {1091-6490},
address = {Washington, DC},
publisher = {National Acad. of Sciences},
reportid = {DZNE-2021-01470},
pages = {e2009393118},
year = {2021},
abstract = {The development of the cerebral cortex relies on the
controlled division of neural stem and progenitor cells. The
requirement for precise spatiotemporal control of
proliferation and cell fate places a high demand on the cell
division machinery, and defective cell division can cause
microcephaly and other brain malformations. Cell-extrinsic
and -intrinsic factors govern the capacity of cortical
progenitors to produce large numbers of neurons and glia
within a short developmental time window. In particular, ion
channels shape the intrinsic biophysical properties of
precursor cells and neurons and control their membrane
potential throughout the cell cycle. We found that
hyperpolarization-activated cyclic nucleotide-gated cation
(HCN) channel subunits are expressed in mouse, rat, and
human neural progenitors. Loss of HCN channel function in
rat neural stem cells impaired their proliferation by
affecting the cell-cycle progression, causing G1
accumulation and dysregulation of genes associated with
human microcephaly. Transgene-mediated, dominant-negative
loss of HCN channel function in the embryonic mouse
telencephalon resulted in pronounced microcephaly. Together,
our findings suggest a role for HCN channel subunits as a
part of a general mechanism influencing cortical development
in mammals.},
keywords = {Animals / Cell Cycle / Cell Death / Cell Proliferation:
physiology / Cells, Cultured / Cerebral Cortex: cytology /
Cerebral Cortex: embryology / Channelopathies: embryology /
Channelopathies: etiology / Embryonic Stem Cells: metabolism
/ Embryonic Stem Cells: physiology / Humans /
Hyperpolarization-Activated Cyclic Nucleotide-Gated
Channels: antagonists $\&$ inhibitors /
Hyperpolarization-Activated Cyclic Nucleotide-Gated
Channels: genetics / Hyperpolarization-Activated Cyclic
Nucleotide-Gated Channels: metabolism /
Hyperpolarization-Activated Cyclic Nucleotide-Gated
Channels: physiology / Mice / Mice, Transgenic /
Microcephaly: embryology / Microcephaly: etiology / Neural
Stem Cells: metabolism / Neural Stem Cells: physiology /
Neurogenesis: physiology / Rats / HCN channelopathy (Other)
/ brain development (Other) / cell cycle (Other) /
microcephaly (Other)},
cin = {AG Isbrandt},
ddc = {500},
cid = {I:(DE-2719)1011003},
pnm = {351 - Brain Function (POF4-351)},
pid = {G:(DE-HGF)POF4-351},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:34429357},
pmc = {pmc:PMC8536352},
doi = {10.1073/pnas.2009393118},
url = {https://pub.dzne.de/record/162815},
}