Results 21 to 30 of about 354,249 (306)

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]

, 2016
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J., Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Lane, Fiona M., Powis, Rachael A., Sherman, Diane L., Shorrock, Hannah K., Zheng, Yinan   +9 more
core   +3 more sources

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]

, 2017
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca, Cacchione, Stefano, DI GIORGIO, MARIA LAURA, Esposito, Alessandro, Feiguin, Fabian, Gallotta, Ivan, Maccallini, Paolo, Mccabe, Brian D., Micheli, Emanuela, Raffa, GRAZIA DANIELA, Schiavi, Elia Di, Verni', Fiammetta   +11 more
core   +1 more source

Mitochondrial dysfunction in neurological disorders: Exploring mitochondrial transplantation

npj Regenerative Medicine, 2020
Mitochondria are fundamental for metabolic homeostasis in all multicellular eukaryotes. In the nervous system, mitochondria-generated adenosine triphosphate (ATP) is required to establish appropriate electrochemical gradients and reliable synaptic ...
Pedro Norat, Sauson Soldozy, Jennifer D. Sokolowski, Catherine M. Gorick, Jeyan S. Kumar, Youngrok Chae, Kaan Yağmurlu, Francesco Prada, Melanie Walker, Michael R. Levitt, Richard J. Price, Petr Tvrdik, M. Yashar S. Kalani   +12 more
doaj   +1 more source

A sart1 Zebrafish Mutant Results in Developmental Defects in the Central Nervous System

Cells, 2020
The spliceosome consists of accessory proteins and small nuclear ribonucleoproteins (snRNPs) that remove introns from RNA. As splicing defects are associated with degenerative conditions, a better understanding of spliceosome formation and function is ...
Hannah E. Henson, Michael R. Taylor
doaj   +1 more source

DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1 [PDF]

, 2007
DNA single-strand breaks (SSBs) are the commonest DNA lesions arising spontaneously in cells, and if not repaired may block transcription or may be converted into potentially lethal/clastogenic DNA double-strand breaks (DSBs).
Arnaudeau, Avemann, Barzilai, Bendixen, Caldecott, Caldecott, Cheng, Chrencik, Christiansen, Clements, Connelly, Culmsee, Daroui, Date, Davies, Davies, Davies, de Boer, Deng, D’Arpa, El-Khamisy, Flangas, Furuta, Godthelp, Hinz, Holm, Horwitz, Hsiang, Inamdar, Interthal, Interthal, Interthal, K.W. Caldecott, Kroeger, Lanza, Lesher, Liao, Lindahl, Liu, Mol, Moreira, Morris, Nitiss, Nouspikel, O’Driscoll, Parsons, Plo, Pommier, Pommier, Pommier, Poot, Pouliot, Pouliot, Pourquier, Pourquier, Pourquier, Pourquier, Pourquier, Rideout, Ryan, Ryan, S.F. El-Khamisy, Sarkander, Sarkander, Shao, Stewart, Strumberg, Takashima, Taylor, Thompson, van Waardenburg, Vance, Vidal, Vierck, Wang, Whitehouse, Wilson, Wu, Wu, Yan, Yang, Zhou, Zhou   +82 more
core   +1 more source

Sotos syndrome (cerebral gigantism): analysis of 8 cases [PDF]

Arquivos de Neuro-Psiquiatria, 2002
Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present.
Débora Gusmão Melo, Angelina Xavier Acosta, Maria Aparecida de Almeida Salles, João Monteiro de Pina-Neto, José Daniel Vieira de Castro, Antonio Carlos Santos   +5 more
doaj   +1 more source

Redundancy and compensation in axon guidance: genetic analysis of the Drosophila Ptp10D/Ptp4E receptor tyrosine phosphatase subfamily [PDF]

, 2008
Background: Drosophila has six receptor protein tyrosine phosphatases (RPTPs), five of which are expressed primarily in neurons. Mutations in all five affect axon guidance, either alone or in combination.
Bahri, Sami, Jeon, Mili, Nguyen, Huong, Zinn, Kai   +3 more
core   +4 more sources

Loss of the mitochondrial i‐AAA protease YME1L leads to ocular dysfunction and spinal axonopathy

EMBO Molecular Medicine, 2018
Disturbances in the morphology and function of mitochondria cause neurological diseases, which can affect the central and peripheral nervous system.
Hans‐Georg Sprenger, Gulzar Wani, Annika Hesseling, Tim König, Maria Patron, Thomas MacVicar, Sofia Ahola, Timothy Wai, Esther Barth, Elena I Rugarli, Matteo Bergami, Thomas Langer   +11 more
doaj   +1 more source

The Drosophila immunoglobulin gene turtle encodes guidance molecules involved in axon pathfinding [PDF]

, 2009
Background: Neuronal growth cones follow specific pathways over long distances in order to reach their appropriate targets. Research over the past 15 years has yielded a large body of information concerning the molecules that regulate this process.
Al-Anzi, Bader, Wyman, Robert J.
core   +4 more sources

AKT inhibition in the central nervous system induces signaling defects resulting in psychiatric symptomatology

Cell & Bioscience, 2022
Background Changes in the expression and activity of the AKT oncogene play an important role in psychiatric disease. We present translational data assessing the role of AKT in psychiatric symptoms.
Apostolia-Maria Tsimberidou, Antonis Skliris, Alan Valentine, Jamie Shaw, Ursula Hering, Henry Hiep Vo, Tung On Chan, Roger S. Armen, Jeffrey R. Cottrell, Jen Q. Pan, Philip N. Tsichlis   +10 more
doaj   +1 more source