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Genetic disorders and genetic manipulation at the blood-brain barriers

This new thematic series from Fluids and Barriers of the CNS publishes new research and reviews on how genetic and epigenetic changes impact blood-brain barrier, neurovascular unit (NVU) and blood-CSF barrier function. It covers how genetic mutations in humans can impact barrier and NVU function leading to pathology, how experimental gene deletion and overexpression studies provide insights into the barriers and NVU, and how model systems have advanced the field.

This collection is closed for submissions.

This collection of articles has not been sponsored and articles have undergone the journal’s standard peer-review process.
 

  2. The CLDN5 gene encodes claudin-5 (CLDN-5) that is expressed in endothelial cells and forms tight junctions which limit the passive diffusions of ions and solutes. The blood–brain barrier (BBB), composed of brain ...

    Authors: Yosuke Hashimoto, Chris Greene, Arnold Munnich and Matthew Campbell
    Citation: Fluids and Barriers of the CNS 2023 20:22
    Content type: Review Published on:

  3. Incomplete recovery of blood–brain barrier (BBB) function contributes to stroke outcomes. How the BBB recovers after stroke remains largely unknown. Emerging evidence suggests that epigenetic factors play a si...

    Authors: Chelsea M. Phillips, Svetlana M. Stamatovic, Richard F. Keep and Anuska V. Andjelkovic
    Citation: Fluids and Barriers of the CNS 2023 20:14
    Content type: Research Published on:

  4. Brain microvascular endothelial cells (BMECs) play a major role in the blood–brain barrier (BBB), and are critical for establishing an in vitro BBB model. Currently, iPSC-derived BMECs (iBMECs) have been used ...

    Authors: Hongyan Zhang, Tomoko Yamaguchi and Kenji Kawabata
    Citation: Fluids and Barriers of the CNS 2023 20:10
    Content type: Research Published on:

  5. Folates are a family of B9 vitamins that serve as one-carbon donors critical to biosynthetic processes required for the development and function of the central nervous system (CNS) in mammals. Folate transport...

    Authors: Vishal Sangha, Md. Tozammel Hoque, Jeffrey T. Henderson and Reina Bendayan
    Citation: Fluids and Barriers of the CNS 2022 19:92
    Content type: Brief Report Published on:

  6. The unique environment of the brain and retina is tightly regulated by blood–brain barrier and the blood-retinal barrier, respectively, to ensure proper neuronal function. Endothelial cells within these tissue...

    Authors: Andreia Goncalves and David A. Antonetti
    Citation: Fluids and Barriers of the CNS 2022 19:86
    Content type: Review Published on:

  7. Mucopolysaccharidoses comprise a set of genetic diseases marked by an enzymatic dysfunction in the degradation of glycosaminoglycans in lysosomes. There are eight clinically distinct types of mucopolysaccharid...

    Authors: Onur Sahin, Hannah P. Thompson, Grant W. Goodman, Jun Li and Akihiko Urayama
    Citation: Fluids and Barriers of the CNS 2022 19:76
    Content type: Review Published on:

  9. Endothelial cells (ECs) in cerebral vessels are considered the primary targets in acute hemorrhagic brain injuries. EC dysfunction can aggravate neuronal injuries by causing secondary inflammatory responses an...

    Authors: Min Joung Lee, Jiebo Zhu, Jong Hun An, Seong Eun Lee, Tae Yeon Kim, Eungseok Oh, Yea Eun Kang, Woosuk Chung and Jun Young Heo
    Citation: Fluids and Barriers of the CNS 2022 19:64
    Content type: Research Published on:

  10. Huntington’s disease (HD) is an inherited neurodegenerative disease caused by expansion of cytosine–adenine–guanine (CAG) repeats in the huntingtin gene, which leads to neuronal loss and decline in cognitive a...

    Authors: Raleigh M. Linville, Renée F. Nerenberg, Gabrielle Grifno, Diego Arevalo, Zhaobin Guo and Peter C. Searson
    Citation: Fluids and Barriers of the CNS 2022 19:54
    Content type: Research Published on:

  12. Severe neonatal jaundice resulting from elevated levels of unconjugated bilirubin in the blood induces dramatic neurological impairment. Central oxidative stress and an inflammatory response have been associat...

    Authors: Sandrine Blondel, Nathalie Strazielle, Amel Amara, Rainui Guy, Christine Bain, Alix Rose, Laurent Guibaud, Claudio Tiribelli, Silvia Gazzin and Jean-François Ghersi-Egea
    Citation: Fluids and Barriers of the CNS 2022 19:47
    Content type: Research Published on:

  13. Mammalian Claudin-5 is the main endothelial tight junction component maintaining blood-brain barrier (BBB) permeability, while Claudin-1 and -3 seal the paracellular space of choroid plexus (CP) epithelial cel...

    Authors: Yanyu Li, Chunchun Wang, Liang Zhang, Bing Chen, Yuqian Mo and Jingjing Zhang
    Citation: Fluids and Barriers of the CNS 2022 19:40
    Content type: Research Published on:

  14. Congenital hydrocephalus occurs with some inheritable characteristics, but the mechanisms of its development remain poorly understood. Animal models provide the opportunity to identify potential genetic causes...

    Authors: Hanbing Xu, Masakazu Miyajima, Madoka Nakajima, Ikuko Ogino, Kaito Kawamura, Chihiro Akiba, Chihiro Kamohara, Koichiro Sakamoto, Kostadin Karagiozov, Eri Nakamura, Nobuhiro Tada, Hajime Arai and Akihide Kondo
    Citation: Fluids and Barriers of the CNS 2022 19:39
    Content type: Research Published on:

  16. The blood–brain barrier (BBB) is an essential component of the neurovascular unit that controls the exchanges of various biological substances between the blood and the brain. BBB damage is a common feature of...

    Authors: Ping Sun, Milton H. Hamblin and Ke-Jie Yin
    Citation: Fluids and Barriers of the CNS 2022 19:27
    Content type: Review Published on:

  17. Adenylyl cyclases (ADCYs), by generating second messenger cAMP, play important roles in various cellular processes. Their expression, regulation and functions in the CNS, however, remain largely unknown. In th...

    Authors: Karan Devasani and Yao Yao
    Citation: Fluids and Barriers of the CNS 2022 19:23
    Content type: Review Published on:

  18. The neurovascular unit (NVU) is a highly organized multicellular system localized in the brain, formed by neuronal, glial (astrocytes, oligodendrocytes, and microglia) and vascular (endothelial cells and peric...

    Authors: Parand Zarekiani, Henrique Nogueira Pinto, Elly M. Hol, Marianna Bugiani and Helga E. de Vries
    Citation: Fluids and Barriers of the CNS 2022 19:18
    Content type: Review Published on:

  19. Intrathecal drug delivery has a significant role in pain management and central nervous system (CNS) disease therapeutics. A fluid-physics based tool to assist clinicians in choosing specific drug doses to the...

    Authors: Mohammadreza Khani, Goutham Kumar Reddy Burla, Lucas R. Sass, Ostin N. Arters, Tao Xing, Haiming Wu and Bryn A. Martin
    Citation: Fluids and Barriers of the CNS 2022 19:8
    Content type: Research Published on:

  20. Ways to prevent disease-induced vascular modifications that accelerate brain damage remain largely elusive. Improved understanding of perivascular cell signalling could provide unparalleled insight as these ce...

    Authors: Julia Baumann, Chih-Chieh Tsao, Shalmali Patkar, Sheng-Fu Huang, Simona Francia, Synnøve Norvoll Magnussen, Max Gassmann, Johannes Vogel, Christina Köster-Hegmann and Omolara O. Ogunshola
    Citation: Fluids and Barriers of the CNS 2022 19:6
    Content type: Research Published on:

  21. Altered cerebrovascular function and accumulation of amyloid-β (Aβ) after traumatic brain injury (TBI) can contribute to chronic neuropathology and increase the risk for Alzheimer’s disease (AD). TBI due to a ...

    Authors: Alexander T. Clark, Eric E. Abrahamson, Matthew M. Harper and Milos D. Ikonomovic
    Citation: Fluids and Barriers of the CNS 2022 19:5
    Content type: Research Published on:

  23. Destruction of blood–brain barrier (BBB) ​​is one of the main mechanisms of secondary brain injury following intracerebral hemorrhage (ICH). Frizzled-7 is a key protein expressed on the surface of endothelial ...

    Authors: Wei He, Qin Lu, Prativa Sherchan, Lei Huang, Xin Hu, John H. Zhang, Haibin Dai and Jiping Tang
    Citation: Fluids and Barriers of the CNS 2021 18:44
    Content type: Research Published on:

  24. In vitro models based on brain capillary endothelial cells (BCECs) are among the most versatile tools in blood–brain barrier research for testing drug penetration into the brain and how this is affected by eff...

    Authors: Birthe Gericke, Saskia Borsdorf, Inka Wienböker, Andreas Noack, Sandra Noack and Wolfgang Löscher
    Citation: Fluids and Barriers of the CNS 2021 18:36
    Content type: Research Published on:

  25. Genetic variation in a population has an influence on the manifestation of monogenic as well as multifactorial disorders, with the underlying genetic contribution dependent on several interacting variants. Com...

    Authors: Johanna Schaffenrath, Sheng-Fu Huang, Tania Wyss, Mauro Delorenzi and Annika Keller
    Citation: Fluids and Barriers of the CNS 2021 18:34
    Content type: Research Published on:

  26. The entry of blood-borne molecules into the brain is restricted by the blood–brain barrier (BBB). Various physical, transport and immune properties tightly regulate molecule movement between the blood and the ...

    Authors: Steffen E. Storck, Magdalena Kurtyka and Claus U. Pietrzik
    Citation: Fluids and Barriers of the CNS 2021 18:27
    Content type: Short paper Published on:

  27. The vessels of the central nervous system (CNS) have unique barrier properties. The endothelial cells (ECs) which comprise the CNS vessels contribute to the barrier via strong tight junctions, specific transpo...

    Authors: Stephanie A. Ihezie, Iny Elizebeth Mathew, Devin W. McBride, Ari Dienel, Spiros L. Blackburn and Peeyush Kumar Thankamani Pandit
    Citation: Fluids and Barriers of the CNS 2021 18:17
    Content type: Review Published on:

  28. Astrocytes (AC) are essential for brain homeostasis. Much data suggests that AC support and protect the vascular endothelium, but increasing evidence indicates that during injury conditions they may lose their...

    Authors: Julia Baumann, Chih-Chieh Tsao, Sheng-Fu Huang, Max Gassmann and Omolara O. Ogunshola
    Citation: Fluids and Barriers of the CNS 2021 18:13
    Content type: Research Published on:

  29. Alzheimer’s disease (AD) is the most common form of neurodegenerative disease. It is an irreversible condition marked by irreversible cognitive loss, commonly attributed to the loss of hippocampal neurons due ...

    Authors: Snehal Raut, Ronak Patel and Abraham J. Al-Ahmad
    Citation: Fluids and Barriers of the CNS 2021 18:3
    Content type: Research Published on: