Results 71 to 80 of about 2,351,931 (407)

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

FEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican, Yara Nabawi, William Hongyu Zhang, Dunja Petrovic, Markus Wehrmann, Sara Muñoz‐García, Seda Koyuncu, David Vilchez   +7 more
wiley   +1 more source

Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles

Biology Open, 2013
Summary Amyotrophic Lateral Sclerosis (ALS) is a motor neuron degenerative disease characterized by a progressive, and ultimately fatal, muscle paralysis. The human VAMP-Associated Protein B (hVAPB) is the causative gene of ALS type 8.
Mario Sanhueza, Luigi Zechini, Trudy Gillespie, Giuseppa Pennetta   +3 more
doaj   +1 more source

Differentiating lower motor neuron syndromes

Journal of Neurology Neurosurgery & Psychiatry, 2016
Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal
N. Garg, Susanna B. Park, S. Vucic, C. Yiannikas, J. Spies, J. Howells, W. Huynh, J. M. Matamala, A. Krishnan, J. Pollard, D. Cornblath, M. Reilly, M. Kiernan   +12 more
semanticscholar   +1 more source

Motor neurone disease [PDF]

BMJ, 1996
In patients with motor neurone disease, progressively worsening breathlessness often coincides with deteriorating bulbar function, and this combination may lead to difficulties in swallowing and coughing and a risk of aspiration. Occasionally, chest infections cause life threatening respiratory failure.
openaire   +3 more sources

Foxp1 and lhx1 coordinate motor neuron migration with axon trajectory choice by gating Reelin signalling. [PDF]

, 2010
Topographic neuronal maps arise as a consequence of axon trajectory choice correlated with the localisation of neuronal soma, but the identity of the pathways coordinating these processes is unknown.
Kania, Artur, Kao, Tzu-Jen, Klar, Avihu, Laufer, Ed, Novitch, Bennett G, Okamoto, Hitoshi, Palmesino, Elena, Rousso, David L, Uemura, Osamu   +8 more
core   +4 more sources

Novel and unscrutinized immune entities of the zebrafish gut

FEBS Letters, EarlyView.
Understudied cells of the zebrafish immune system include bona fide immune cells and epithelial (‐derived) cells with immune functions. Research focusing on zebrafish cells which demonstrate similarities to mammalian immune cell counterparts may help us understand the pathologies in which they are implicated. Currently available and advanced tools make
Audrey Inge Schytz Andersen‐Civil, Marine Mantel, Julia Soh, Serge Mostowy, Sylvia Brugman, Gilles Claude Vanwalleghem   +5 more
wiley   +1 more source

Use and subjective experience of the impact of motor-assisted movement exercisers in people with amyotrophic lateral sclerosis: a multicenter observational study

Scientific Reports, 2022
Motor-assisted movement exercisers (MME) are devices that assist with physical therapy in domestic settings for people living with ALS. This observational cross-sectional study assesses the subjective experience of the therapy and analyzes users ...
André Maier, Marcel Gaudlitz, Torsten Grehl, Ute Weyen, Robert Steinbach, Julian Grosskreutz, Annekathrin Rödiger, Jan Christoph Koch, Teresa Lengenfeld, Patrick Weydt, René Günther, Joachim Wolf, Petra Baum, Moritz Metelmann, Johannes Dorst, Albert C. Ludolph, Dagmar Kettemann, Jenny Norden, Ruhan Yasemin Koc, Bertram Walter, Barbara Hildebrandt, Christoph Münch, Thomas Meyer, Susanne Spittel   +23 more
doaj   +1 more source

Insm1a Regulates Motor Neuron Development in Zebrafish

bioRxiv, 2017
Insulinoma-associated1a (Insm1a) is a zinc-finger transcription factor playing a series of functions in cell formation and differentiation of vertebrate central and peripheral nervous systems and neuroendocrine system.
Jie Gong, Xin Wang, Chenwen Zhu, Xiaohua Dong, Qinxin Zhang, Xiaoning Wang, Xuchu Duan, Fuping Qian, Yunwei Shi, Yu Gao, Qingshun Zhao, R. Chai, Dong Liu   +12 more
semanticscholar   +1 more source

Ca2+-activated K+ channels modulate microglia affecting motor neuron survivalin hSOD1G93A mice [PDF]

, 2018
Recent studies described a critical role for microglia in amyotrophic lateral sclerosis (ALS), where these CNS-resident immune cells participate in the establishment of an inflammatory microenvironment that contributes to motor neuron degeneration ...
Antonangeli, Fabrizio, Carbonari, Laura, Cocozza, Germana, D'Alessandro, Giuseppina, di Castro, Maria Amalia, Garofalo, Stefano, Grassi, Francesca, Grimaldi, Alfonso, Limatola, Cristina, Madonna, Michele, Mainiero, Fabrizio, Porzia, Alessandra, Santoni, Angela, Wulff, Heike   +13 more
core   +2 more sources

Cancer cell death induced by the NAD antimetabolite Vacor discloses the antitumor potential of SARM1

FEBS Letters, EarlyView.
Vacor, a compound converted into the toxic metabolite Vacor adenine dinucleotide (VAD) by the nicotinamide salvage pathway enzymes NAMPT and NMNAT2, exhibits antitumor activity by inducing rapid and complete NAD depletion. We report that Vacor toxicity is limited to cell lines expressing high levels of SARM1, a NAD glycohydrolase.
Giuseppe Ranieri, Andrea Lapucci, Giuseppe Orsomando, Nadia Raffaelli, Alberto Chiarugi, Daniela Buonvicino   +5 more
wiley   +1 more source