Results 61 to 70 of about 48,590 (271)

Cerebellar Morphology and Behavioral Profiles in Mice Lacking Heparan Sulfate Ndst Gene Function

Journal of Developmental Biology, 2020
Disruption of the Heparan sulfate (HS)-biosynthetic gene N-acetylglucosamine N-Deacetylase/N-sulfotransferase 1 (Ndst1) during nervous system development causes malformations that are composites of those caused by mutations of multiple HS binding growth ...
Lars Lewejohann, Srinivas R. Pallerla, Rebecca S. Schreiber, Joanna Gerula, Kay Grobe   +4 more
doaj   +1 more source

Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons

eLife, 2021
Preterm infants that suffer cerebellar insults often develop motor disorders and cognitive difficulty. Excitatory granule cells, the most numerous neuron type in the brain, are especially vulnerable and likely instigate disease by impairing the function ...
Meike E van der Heijden, Elizabeth P Lackey, Ross Perez, Fatma S Ișleyen, Amanda M Brown, Sarah G Donofrio, Tao Lin, Huda Y Zoghbi, Roy V Sillitoe   +8 more
doaj   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Neurotrophin-3 induced by tri-iodothyronine in cerebellar granule cells promotes Purkinje cell differentiation [PDF]

, 1993
Thyroid hormones play an important role in brain development, but the mechanism(s) by which triiodothyronine (T3) mediates neuronal differentiation is poorly understood. Here we demonstrate that T3 regulates the neurotrophic factor, neurotrophin-3 (NT-3),
H Thoenen, Lindholm, D, Parada, L F, Kolbeck, R, Heisenberg, C P, A Leingärtner, D Lindholm, R Kolbeck, M da P Berzaghi, Berzaghi, M da P, Tessarollo, L, CP Heisenberg, Tsoulfas, P, Thoenen, H, Leingärtner, A, L Tesarollo, L Tessarollo, Castrén, E, E Castrén, LF Parada, P Tsoulfas, Tesarollo, L   +21 more
core   +1 more source

Endoglycan Regulates Purkinje Cell Migration by Balancing Cell-Cell Adhesion [PDF]

, 2022
The importance of cell adhesion molecules for the development of the nervous system has been recognized many decades ago. Functional in vitro and in vivo studies demonstrated a role of cell adhesion molecules in cell migration, axon growth and guidance ...
Stoeckli, Esther T; https://orcid.org/, Baeriswyl, Thomas, Schaettin, Martina, Leoni, Simone, Dumoulin, Alexandre; https://orcid.org/   +4 more
core   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Direct reprogramming of cardiomyocytes into cardiac Purkinje-like cells

iScience, 2022
Summary: Currently, there are no treatments that ameliorate cardiac cell death, the underlying basis of cardiovascular disease. An unexplored cell type in cardiac regeneration is cardiac Purkinje cells; specialized cells from the cardiac conduction ...
Nicole Prodan, Faheem Ershad, Arfaxad Reyes-Alcaraz, Luge Li, Brandon Mistretta, Lei Gonzalez, Zhoulyu Rao, Cunjiang Yu, Preethi H. Gunaratne, Na Li, Robert J. Schwartz, Bradley K. McConnell   +11 more
doaj   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice [PDF]

, 2009
Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor ...
Kneussel Matthias, Loebrich, S, Sven Loebrich, Hevers, Wulf, Michaela Schweizer, Eilers, Jens, Đikić, Ivan, Corinna Lappe-Siefke, Wilson, Scott M., Scott M Wilson, Waidmann Oliver B., Fehr Susanne, Schweizer, M, Kneussel, Matthias, Oliver B Waidmann, Fritschy Jean-Marc, Jean-Marc Fritschy, Wilson, S M, Schweizer Michaela, Jens Eilers, Eilers, J, Fritschy, Jean-Marc, Ivan Dikic, Fritschy, J M, Dikic, I, Schweizer, Michaela, Eilers Jens, Susanne Fehr, Waidmann, O B, Wilson Scott M., Fehr, Susanne, Matthias Kneussel, Fehr, S, Lappe-Siefke, Corinna, Waidmann, Oliver, Dikic Ivan, Loebrich Sven, Hevers Wulf, Lappe-Siefke, C, Hevers, W, Kneussel, M, Löbrich, Sven, Wulf Hevers, Lappe-Siefke Corinna   +43 more
core   +1 more source

On complex dynamics in a Purkinje and a ventricular cardiac cell model [PDF]

, 2020
Cardiac muscle cells can exhibit complex patterns including irregular behaviour such as chaos or (chaotic) early afterdepolarisations (EADs), which can lead to sudden cardiac death.
Erhardt, André Henrik, Solem, Susanne, Erhardt, André H.   +2 more
core   +1 more source