Results 111 to 120 of about 80,189 (259)

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Newly identified properties of known pharmaceuticals and myxobacterial small molecules revealed by screening for autophagy modulators

The FEBS Journal, EarlyView.
Autophagy is a cellular degradation process involved in, for example, immune responses to pathogens and neurodegeneration. To identify modulators of autophagy, we developed a microscopy‐based screening assay and identified previously unknown autophagy‐modulating activities in known drugs and natural products from myxobacteria and fungi.
Janine Fichtner, Yan Yan Beer, H. G. Mauricio Ramm, Sabrina Mühlen, Frank Surup, Jennifer Herrmann, Toni Luise Meister, Stephanie Pfaender, Ursula Bilitewski, Mark Brönstrup, Rolf Müller, Manfred Wirth, Eeva‐Liisa Eskelinen, Ingo Schmitz   +13 more
wiley   +1 more source

A new approach for determining phase response curves reveals that Purkinje cells can act as perfect integrators.

PLoS Computational Biology, 2010
Cerebellar Purkinje cells display complex intrinsic dynamics. They fire spontaneously, exhibit bistability, and via mutual network interactions are involved in the generation of high frequency oscillations and travelling waves of activity.
Elena Phoka, Hermann Cuntz, Arnd Roth, Michael Häusser   +3 more
doaj   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Functional divergence of protein kinase A regulatory subunit Iβ variants: the importance of N3A motifs in PKA regulation

The FEBS Journal, EarlyView.
The regulatory subunit RIβ of protein kinase A occurs in two variants that differ at residue 268 (A268 versus R268). This seemingly small substitution significantly changes cAMP sensitivity, basal kinase activity, and the dynamic behavior of the regulatory domains.
Maximilian Wallbott, Jui‐Hung Weng, Valeria Pane, Yuliang Ma, Jian Wu, Susan S. Taylor, Friedrich W. Herberg   +6 more
wiley   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

A signal processing analysis of Purkinje cells in vitro

Frontiers in Neural Circuits, 2010
Cerebellar Purkinje cells in vitro fire recurrent sequences of Sodium and Calcium spikes. Here, we analyze the Purkinje cell using harmonic analysis, and our experiments reveal that its output signal is comprised of three distinct frequency bands, which ...
Ze'ev R Abrams, Ze'ev R Abrams, Ajithkumar Warrier, Dirk Trauner, Xiang Zhang, Xiang Zhang   +5 more
doaj   +1 more source

Opsoclonus‐Myoclonus‐Ataxia Syndrome Associated with Coexisting Anti‐N‐Methyl‐D‐Aspartate Receptor and Glial Fibrillary Acidic Protein Antibodies

Movement Disorders Clinical Practice, EarlyView.
Eriko Igami, Yutaka Oji, Akihiro Yamaguchi, Shin‐ichi Ueno, Yuji Tomizawa, Taiji Tsunemi, Taku Hatano, Nobutaka Hattori   +7 more
wiley   +1 more source

Variability in intracellular localization of D‐amino acid oxidase in choroid plexus epithelial cells

The FEBS Journal, EarlyView.
D‐amino acid oxidase (DAO) in choroid plexus epithelial cells (CPECs) shows vesicle‐like localization by histological and super‐resolution analyses. DAO colocalizes with peroxisomal, Golgi, endosomal, lysosomal, autophagosomal, and exosomal markers, indicating diverse subcellular distribution. This suggests DAO is transported within CPECs to metabolize
Koji Ono, Yuji Shishido, Toshiyuki Yamagishi, Kiyoshi Fukui   +3 more
wiley   +1 more source

Regional cerebellar structural deficits distinguish psychostimulant‐free ADHD youth with and without familial risk for bipolar I disorder: a cross‐sectional morphometric analysis

Journal of Child Psychology and Psychiatry, EarlyView.
Background Although attention‐deficit/hyperactivity disorder (ADHD) with familial risk for bipolar I disorder (BD) may represent a more severe illness conferring greater risk for developing BD, associated neurostructural substrates remain poorly understood.
Biqiu Tang, L. Rodrigo Patino, Wenjing Zhang, Su Lui, Melissa P. DelBello, Robert K. McNamara   +5 more
wiley   +1 more source