Results 101 to 110 of about 95,709 (300)

Mutant FUS and ELAVL4 (HuD) Aberrant Crosstalk in Amyotrophic Lateral Sclerosis

Cell Reports, 2019
Summary: Amyotrophic lateral sclerosis (ALS) has been genetically linked to mutations in RNA-binding proteins (RBPs), including FUS. Here, we report the RNA interactome of wild-type and mutant FUS in human motor neurons (MNs).
Riccardo De Santis, Vincenzo Alfano, Valeria de Turris, Alessio Colantoni, Laura Santini, Maria Giovanna Garone, Giuseppe Antonacci, Giovanna Peruzzi, Emma Sudria-Lopez, Emanuel Wyler, Jasper J. Anink, Eleonora Aronica, Markus Landthaler, R. Jeroen Pasterkamp, Irene Bozzoni, Alessandro Rosa   +15 more
doaj   +1 more source

Patients with ALS show highly correlated progression rates in left and right limb muscles. [PDF]

, 2017
ObjectiveAmyotrophic lateral sclerosis (ALS) progresses at different rates between patients, making clinical trial design difficult and dependent on large cohorts of patients.
Allred, Peggy, Andres, Patricia L, Baloh, Robert H, Rushton, David J, Svendsen, Clive N   +4 more
core   +1 more source

Amyotrophic Lateral Sclerosis (ALS)

, 2021
Amyotrophic lateral sclerosis (ALS) is a motor neuron disorder with a terminal outcome, the pathophysiology of which is not yet clearly understood. There are various subtypes of ALS and factors related both to the environment and to genetics which play a role in the development of the condition. This article will give a general overview of ALS and will
openaire   +1 more source

C9ORF72 in Japanese amyotrophic lateral sclerosis (ALS)

Rinsho Shinkeigaku, 2013
Recently, C9orf72 hexanucleotide (GGGGCC) repeat expansion in intron 1 was reported to be the most common cause of sporadic and familial amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) in the Caucasian population. The frequency of the intronic repeat expansion is up to 21%-57% in familial ALS and 3%-21% in sporadic ALS.In the Japanese
openaire   +3 more sources

Embedded CRISPRi Enhances Gene‐Silencing Efficiency in Drosophila

Advanced Science, EarlyView.
Current CRISPR interference (CRISPRi) technology in Drosophila has limited efficiency. This study introduces the emCRISPRi platform, which significantly enhances transcriptional silencing efficacy by embedding inhibitory domains within the dCas9 architecture.
Pengchong Fu, Xuedi Zhang, Ying Zhou, Jie Zheng, Angyang Sun, Kailong Zhuang, Weiwei Bao, Guanjun Gao   +7 more
wiley   +1 more source

A small-molecule inhibitor of SOD1-Derlin-1 interaction ameliorates pathology in an ALS mouse model

Nature Communications, 2018
Amyotrophic lateral sclerosis (ALS) is a neurological disease that leads to loss of voluntary muscle movement. Here, the authors screen for molecules that disrupt interaction between SOD1, a protein linked to ALS, and Derlin-1, and find an inhibitor that
Naomi Tsuburaya, Kengo Homma, Tsunehiko Higuchi, Andrii Balia, Hiroyuki Yamakoshi, Norio Shibata, Seiichi Nakamura, Hidehiko Nakagawa, Shin-ichi Ikeda, Naoki Umezawa, Nobuki Kato, Satoshi Yokoshima, Masatoshi Shibuya, Manabu Shimonishi, Hirotatsu Kojima, Takayoshi Okabe, Tetsuo Nagano, Isao Naguro, Keiko Imamura, Haruhisa Inoue, Takao Fujisawa, Hidenori Ichijo   +21 more
doaj   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Antiviral Immune Response as a Trigger of FUS Proteinopathy in Amyotrophic Lateral Sclerosis

Cell Reports, 2019
Summary: Mutations in the FUS gene cause familial amyotrophic lateral sclerosis (ALS-FUS). In ALS-FUS, FUS-positive inclusions are detected in the cytoplasm of neurons and glia, a condition known as FUS proteinopathy.
Tatyana A. Shelkovnikova, Haiyan An, Lucy Skelt, John S. Tregoning, Ian R. Humphreys, Vladimir L. Buchman   +5 more
doaj   +1 more source

Synchrotron XRF Imaging Reveals Manganese Accumulation in the Golgi and Post‐Synapses of Neurons and Enhanced Uptake in Astrocytes

Advanced Science, EarlyView.
Despite widespread exposure, the mechanisms of manganese neurotoxicity remain poorly understood. Using correlative cryogenic fluorescence and synchrotron X‐ray fluorescence imaging techniques, we show that the Golgi apparatus is the primary accumulation site for manganese in both neurons and astrocytes, and that manganese targets the neuronal ...
Ines Kelkoul, Aiyarin Kittilukkana, Luis C. C. Huarte, Hiram Castillo‐Michel, Murielle Salome, Stéphane Roudeau, Pauline Belzanne, Matthieu Sainlos, Noémie Pied, Monica Fernandez‐Monreal, Daniel Choquet, Richard Ortega, Asuncion Carmona   +12 more
wiley   +1 more source

Early Dropped Head Syndrome In A Case With Amyotrophic Lateral Sclerosis

Annals of Indian Academy of Neurology, 2005
We Report a case of "Dropped head syndrome" [DHS] due to Amyotrophic lateral sclerosis [ALS]. A thirty seven year old gentleman was admitted with progressive limb and bulbar weakness of 10 months duration.
Shanbhogue K R, Rajesh S, Durairaj R, Mugundan K, Balasubramanian S, Gobinathan S, Velusamy S   +6 more
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