Article
Multidisciplinary Sciences
Dianlei Guo, Jiali Ru, Lijing Xie, Mingjuan Wu, Yingchun Su, Shiyong Zhu, Shujuan Xu, Bin Zou, Yanhong Wei, Xialin Liu, Yizhi Liu, Chunqiao Liu
Summary: The study discovered that Tmem138 plays a crucial role in the functional organization of photoreceptor connecting cilium (CC), which is essential for rhodopsin localization and outer segment (OS) biogenesis. Inactivation of Tmem138 leads to abnormal development of OS and degeneration of photoreceptor cells.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biochemistry & Molecular Biology
Nemanja Milicevic, Ouafa Ait-Hmyed Hakkari, Udita Bagchi, Cristina Sandu, Aldo Jongejan, Perry D. Moerland, Jacoline B. ten Brink, David Hicks, Arthur A. Bergen, Marie-Paule Felder-Schmittbuhl
Summary: The study showed that Per1 and Per2 are essential clock components for driving photoreceptor outer segment phagocytosis, and this process may be transcriptionally driven by the retinal pigment epithelium (RPE). No differentially expressed genes were found in photoreceptors, while several genes were differentially expressed in the RPE, both in wild type and Per1, Per2 double mutant mice. STRING analysis identified a group of interacting genes potentially involved in driving photoreceptor outer segment phagocytosis in the RPE.
Article
Multidisciplinary Sciences
William J. Spencer, Nicholas F. Schneider, Tylor R. Lewis, Carson M. Castillo, Nikolai P. Skiba, Vadim Y. Arshavsky
Summary: The photoreceptor outer segment is a cilium filled with flat-tened disc membranes for light capture. The addition of new discs at the base of outer segments is driven by Arp2/3-mediated actin polymerization initiated by the pentameric WAVE complex. Knockout of WASF3, a subunit of the WAVE complex, disrupts actin polymerization and leads to disorganized membrane lamellae instead of a proper outer segment.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biology
Matthias Poege, Julia Mahamid, Sanae S. Imanishi, Juergen M. Plitzko, Krzysztof Palczewski, Wolfgang Baumeister
Summary: Studies have identified two molecular connectors/spacers in the membrane structure of rod outer segment (ROS) that likely contribute to the precise stacking of ROS disks. Additionally, a continuous supramolecular assembly composed of peripherin-2 (PRPH2) and rod outer segment membrane protein 1 (ROM1) oligomers enforces the extreme radius of curvature at the disk rims. Together, these molecular assemblies constitute the structural basis of the highly specialized ROS functional architecture.
Article
Neurosciences
Jillian N. Pearring, Jorge Martinez-Marquez, Jason R. Willer, Eric C. Lieu, Raquel Y. Salinas, Vadim Y. Arshavsky
Summary: The study found that the targeted delivery of the rod cyclic nucleotide-gated (CNG) channel to the outer segment uses the conventional secretory pathway and requires preassembly of its constituent alpha 1 and beta 1 subunits. The N-terminal glutamic acid-rich protein domain of CNG beta 1 encodes specific information targeting the channel to rod outer segments and connects the channel to photoreceptor disk rims through an interaction with peripherin-2. These findings reveal fine functional specializations within the CNG channel's structural domains and suggest that its sequestration to the outer segment plasma membrane requires an interaction with peripherin-2.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Ailis L. Moran, Stephen P. Carter, Joanna J. Kaylor, Zhichun Jiang, Sanne Broekman, Eugene T. Dillon, Alicia Gomez Sanchez, Sajal K. Minhas, Erwin van Wijk, Roxana A. Radu, Gabriel H. Travis, Michelle Carey, Oliver E. Blacque, Breandan N. Kennedy
Summary: The study reveals the importance of Rab28 in regulating both dawn and dusk peaks of outer segment phagocytosis (OSP). Loss of Rab28 leads to dysregulation of factors associated with OSP and perturbs the visual cycle. Transgenic overexpression of Rab28 in zebrafish cones rescues the OSP defect, highlighting the role of Rab28 in regulating OSP.
Article
Cell Biology
Xiaoming Fang, Andrew A. Peden, Fredericus J. M. van Eeden, Jarema J. Malicki
Summary: Opsin plays a crucial role in vertebrate photoreceptors by being transported to the outer segment for its function. Studies have shown that there are differences in the transport mechanisms of opsins in different species, which may be related to changes in amino acid sequences.
JOURNAL OF CELL SCIENCE
(2021)
Review
Biochemistry & Molecular Biology
Ailis L. Moran, John D. Fehilly, Daniel Floss Jones, Ross Collery, Breandan N. Kennedy
Summary: Outer segment phagocytosis (OSP) is a regulated process in which photoreceptor outer segment tips are consumed by adjacent retinal pigment epithelium (RPE) cells. However, there is still limited knowledge about the key regulators of OSP in vivo. Understanding the regulation of OSP is crucial for the treatment of ocular diseases related to OSP.
Article
Cell Biology
Amanda Miles, Clarke Blair, Andrew Emili, Vincent Tropepe
Summary: This study discovered the association between the USH1 gene pcdh15b and retinopathy in zebrafish model, revealing that defects in rod and cone photoreceptors will lead to vision impairment.
DISEASE MODELS & MECHANISMS
(2021)
Article
Cell Biology
Brittany J. Carr, Paloma Stanar, Orson L. Moritz
Summary: Mutations in prom1 and cdhr1 genes are associated with inherited retinal degenerative disorders. Prom1-null mutations result in severely dysmorphic photoreceptors while cdhr1-null photoreceptors do not appear grossly abnormal. Double-null mutants do not differ significantly from prom1-null mutants.
JOURNAL OF CELL SCIENCE
(2021)
Article
Developmental Biology
Courtney A. Burger, Danye Jiang, Robert D. Mackin, Melanie A. Samuel
Summary: Synapses in the outer retina are crucial for vision, serving as the first relay points for information. The large and ordered nature of these synapses makes them a valuable system for studying synaptic specificity and maintenance mechanisms. Understanding the development, maintenance, and connectivity of these synapses is essential for restoring visual function.
DEVELOPMENTAL BIOLOGY
(2021)
Article
Ophthalmology
Moreno Menghini, Jasleen K. Jolly, Anika Nanda, Laura Wood, Jasmina Cehajic-Kapetanovic, Robert E. MacLaren
Summary: This study analyzed the foveal photoreceptor outer segment length in RPGR patients, finding early thinning in these patients, which might explain the lower visual acuity observed. These findings are important for assessing efficacy outcome measures in retinal gene therapy trials.
Article
Ophthalmology
Dmitrii S. Maltsev, Alexey N. Kulikov, Maria A. Burnasheva, Jay Chhablani
Summary: A study found that in acute central serous chorioretinopathy (CSC), the photoreceptor outer segment (PROS) layer is thinning above the fluorescein leakage, and this phenomenon is associated with thinning of the outer retinal layers. Cases without PROS thinning had the fastest resolution of subretinal fluid.
THERAPEUTIC ADVANCES IN OPHTHALMOLOGY
(2023)
Article
Neurosciences
Adriana L. Hotz, Ahmed Jamali, Nicolas N. Rieser, Stephanie Niklaus, Ecem Aydin, Sverre Myren-Svelstad, Laetitia Lalla, Nathalie Jurisch-Yaksi, Emre Yaksi, Stephan C. F. Neuhauss
Summary: The loss of function in the astroglia predominant eaat2a gene in zebrafish leads to altered neuronal and astroglial networks, resulting in epileptic seizures and increased extracellular glutamate levels. Interestingly, while hyperexcitability is observed during seizures, basal neuronal and astroglial activity is reduced, leading to decreased overall locomotion in eaat2a(-/-) mutant animals.
Article
Cell Biology
Karin Tuschl, Richard J. White, Chintan Trivedi, Leonardo E. Valdivia, Stephanie Niklaus, Isaac H. Bianco, Chris Dadswell, Ramon Gonzalez-Mendez, Ian M. Sealy, Stephan C. F. Neuhauss, Corinne Houart, Jason Rihel, Stephen W. Wilson, Elisabeth M. Busch-Nentwich
Summary: This study identified potential targets of manganese neurotoxicity using a slc39a14(-/-) mutant zebrafish model exposed to MnCl2. The findings suggest that dysregulation of Ca2+ homeostasis and activation of the unfolded protein response are key features of manganese neurotoxicity. Additionally, manganese exposure led to locomotor defects and changes in visual and neuronal activity.
DISEASE MODELS & MECHANISMS
(2022)
Article
Multidisciplinary Sciences
Avishag Mytlis, Vineet Kumar, Tao Qiu, Rachael Deis, Neta Hart, Karine Levy, Markus Masek, Amal Shawahny, Adam Ahmad, Hagai Eitan, Farouq Nather, Shai Adar-Levor, Ramon Y. Birnbaum, Natalie Elia, Ruxandra Bachmann-Gagescu, Sudipto Roy, Yaniv M. Elkouby
Summary: A cilium has been identified in oocytes, which counterbalances telomere pulling and is essential for bouquet and synaptonemal complex formation, oogenesis, ovarian development, and fertility.
Article
Multidisciplinary Sciences
Markus Masek, Christelle Etard, Claudia Hofmann, Andreas J. Huelsmeier, Jingjing Zang, Masanari Takamiya, Matthias Gesemann, Stephan C. F. Neuhauss, Thorsten Hornemann, Uwe Straehle, Ruxandra Bachmann-Gagescu
Summary: The study identifies the role of Bbs1 in lipid homeostasis of photoreceptor outer segments, which may contribute to vision loss in patients with Bardet-Biedl syndrome.
NATURE COMMUNICATIONS
(2022)
Article
Biology
Charles Capdeville, Linda Russo, David Penton, Jessica Migliavacca, Milica Zecevic, Alexandre Gries, Stephan Cf Neuhauss, Michael A. Grotzer, Martin Baumgartner
Summary: This study using spatial proteomics approach found that hepatocyte growth factor (HGF) can change the composition of the plasma membrane-associated proteome of Medulloblastoma (MB) tumor cells, thereby affecting cell adhesion and invasiveness. The study also revealed the important role of MAP4K4 in controlling the plasma membrane-associated proteome of MB cells.
LIFE SCIENCE ALLIANCE
(2022)
Article
Clinical Neurology
Sverre Myren-Svelstad, Ahmed Jamali, Sunniva S. Ophus, Percival P. D'gama, Anna M. Ostenrath, Aytac Kadir Mutlu, Helene Homme Hoffshagen, Adriana L. Hotz, Stephan C. F. Neuhauss, Nathalie Jurisch-Yaksi, Emre Yaksi
Summary: This study investigated neural excitability and dynamics in multiple zebrafish seizure and epilepsy models. The researchers found divergent and convergent features in spontaneous and photically evoked neural and locomotor activity. The study suggests that understanding the interplay between elevated and depressed excitability states could lead to tailored epilepsy therapies.
Article
Multidisciplinary Sciences
Ludovica Ciampi, Federica Mantica, Laura Lopez-Blanch, Jon Permanyer, Cristina Rodriguez-Marin, Jingjing Zang, Damiano Cianferoni, Senda Jimenez-Delgado, Sophie Bonnal, Samuel Miravet-Verde, Verena Ruprecht, Stephan C. F. Neuhauss, Sandro Banfi, Sabrina Carrella, Luis Serrano, Sarah A. Head, Manuel Irimia
Summary: Retinal photoreceptors have a unique transcriptomic profile, including distinct microexons and a microexon program regulated by Srrm3. Deletion of Srrm3 may lead to retinal diseases, highlighting the transcriptomic specialization and functionality of photoreceptors.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Developmental Biology
Sara Caviglia, Iris A. Unterweger, Akvile Gasiunaite, Alexandre E. Vanoosthuyse, Francesco Cutrale, Le A. Trinh, Scott E. Fraser, Stephan C. F. Neuhauss, Elke A. Ober
Summary: Visualizing cell shapes and interactions is crucial for understanding organ development and repair. However, integrating multi-fluorophore information into developing zebrafish tissues is challenging. In this study, the researchers developed FRaeppli, a method for efficient cell shape analysis and tracking using specific fluorescent proteins.
Article
Multidisciplinary Sciences
Jan Durrer, Prajwal Agrawal, Ali Ozgul, Stephan C. F. Neuhauss, Nitesh Nama, Daniel Ahmed
Summary: This study presents a robot-assisted acoustofluidic system that combines robotics and microfluidic functionalities. The system allows for fluid pumping, particle and embryo trapping, and mobile mixing of complex liquids. Furthermore, it can be pre-programmed to automate chemical processes.
NATURE COMMUNICATIONS
(2022)
Article
Neurosciences
Cagla Ozsoy, Adriana L. Hotz, Nicolas N. Rieser, Zhenyue Chen, Xose Luis Dean-Ben, Stephan C. F. Neuhauss, Daniel Razansky
Summary: This study reports on a real-time volumetric optoacoustic imaging technique that captures abnormal swimming activity and calcium transients in freely behaving zebrafish, providing insights into the functional interconnections between zebrafish behavior and neuronal activity.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Ella Vintschger, Dennis Kraemer, Pascal Joset, Anselm H. C. Horn, Anita Rauch, Heinrich Sticht, Ruxandra Bachmann-Gagescu
Summary: Next generation sequencing (NGS) is used to detect carrier status for rare recessive disorders. The recent ACMG recommendations support NGS-based carrier screening (NGS-CS) for genes with a carrier frequency > 1/200. However, variant interpretation in healthy individuals presents challenges, and the true carrier frequencies are uncertain. Thus, genetic counseling for NGS-CS should disclose these limitations.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Editorial Material
Neurosciences
Stephan C. F. Neuhauss
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Biotechnology & Applied Microbiology
Fabian F. F. Voigt, Anna Maria Reuss, Thomas Naert, Sven Hildebrand, Martina Schaettin, Adriana L. L. Hotz, Lachlan Whitehead, Armin Bahl, Stephan C. F. Neuhauss, Alard Roebroeck, Esther T. T. Stoeckli, Soeren S. S. Lienkamp, Adriano Aguzzi, Fritjof Helmchen
Summary: Imaging of large, cleared samples is achieved using a multi-immersion 'Schmidt objective' consisting of a spherical mirror and an aspherical correction plate. This objective is compatible with all homogeneous immersion media and achieves an NA of 1.08 at a refractive index of 1.56, with a 1.1-mm FOV and 11-mm WD.
NATURE BIOTECHNOLOGY
(2023)
Article
Neurosciences
Matthias Gesemann, Stephan C. F. Neuhauss
Summary: Membrane guanylyl cyclase receptors play a crucial role in regulating cGMP production and have various physiological functions. This report focuses on the visual guanylyl cyclase receptors GC-E and GC-F and their activating proteins GCAP1/2/3. Different species have different expression patterns of GC-F receptors, and their absence is related to changes in visual sensitivity and variations in activating proteins.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Robotics
Zhiyuan Zhang, Leonardo K. K. Allegrini, Naoki Yanagisawa, Yong Deng, Stephan C. F. Neuhauss, Daniel Ahmed
Summary: This study presents a miniaturized acoustic rotation platform, called SonoRotor, for animal models. By controlling the voltage applied to the device, the rotation speed of zebrafish can be adjusted. The developed acoustic rotation manipulation platform is simple, cost-effective, allows multiview imaging, high-throughput operation, and can be combined with downstream analytical techniques to perform various biological micromanipulations on small animal models.
IEEE ROBOTICS AND AUTOMATION LETTERS
(2023)