Results 131 to 140 of about 74,541 (281)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Probing the free energy landscapes of ALS disease mutants of SOD1 by NMR spectroscopy [PDF]

, 2016
Ashok Sekhar, Jessica Rumfeldt, Helen R. Broom, Colleen Doyle, Ryan E. Sobering, Elizabeth M. Meiering, Lewis E. Kay   +6 more
openalex   +1 more source

Influenza A Virus (H1N1) Infection Induces Ferroptosis to Promote Developmental Injury in Fetal Tissues

Cell Proliferation, EarlyView.
H1N1 infection during pregnancy specifically targets the fetal liver and lungs, triggering immune responses, tissue fibrosis and ferroptosis in parenchymal cells, ultimately leading to adverse pregnancy outcomes, offering insights into managing maternal H1N1 infections and their impact on fetal health.
Yuxi Jiang, Yao Shen, Qiongyin Zhang, Zi Liu, Yuzhen Liu, Jiaojiao Peng, Xuesong Yang, Feng Gao, Xiang‐Hong Ou, Qing‐Yuan Sun, Qiao Zhang, Guang Wang   +11 more
wiley   +1 more source

Antioxidant enzyme expression of mRNA and protein in the epididymis of finasteride-treated male rat offspring during postnatal development

Archives of Medical Science, 2017
Agnieszka Kolasa-Wołosiuk, Maciej Tarnowski, Irena Baranowska-Bosiacka, Dariusz Chlubek, Barbara Wiszniewska   +4 more
doaj   +1 more source

The effects of human wild-type and FALS mutant L144P SOD1 on non-vascular smooth muscle contractions [PDF]

Journal of Medical Biochemistry, 2013
Background: Mutated copper, zinc-containing superoxide dismutase (SOD1) may self-aggregate, an event that could also be an initial cause of motor neuron malfunction leading to disease onset.
Nikolić-Kokić Aleksandra, Oreščanin-Dušić Zorana, Slavić Marija, Spasojević Ivan, Stević Zorica, Spasić Mihajlo, Blagojević Duško   +6 more
doaj  

Repurposing carbamazepine for the treatment of amyotrophic lateral sclerosis in SOD1‐G93A mouse model [PDF]

, 2018
Jing‐Jing Zhang, Qinming Zhou, Sheng Chen, Weidong Le   +3 more
openalex   +1 more source

First Principles Calculation of Protein–Protein Dimer Affinities of ALS-Associated SOD1 Mutants [PDF]

, 2022
Shawn C. C. Hsueh, Mark J. Nijland, Xubiao Peng, Benjamin Hilton, Steven S. Plotkin   +4 more
openalex   +1 more source

E3 ligase Praja1 mediates ubiquitination and degradation of microtubule‐associated protein tau

The FEBS Journal, EarlyView.
E3 ligase Praja1, but not its paralogue Praja2, recognizes and ubiquitinates tau protein for proteasomal degradation. This newly identified function of Praja1‐mediated tau degradation suggests its role in protein quality control, which may provide insights into the pathogenesis of tauopathies.
Shiho Aoki, Wataru Onodera, Akihiko Takashima, Kotaro Kawasaki, Kazuki Imadegawa, Hikaru Kurahashi, Mizuho Oishi, Toru Asahi, Yoshiyuki Soeda   +8 more
wiley   +1 more source

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

, 2018
Naomi Tsuburaya, Kengo Homma, Tsunehiko Higuchi, Andrii Balia, Hiroyuki Yamakoshi, Norio Shibata, Seiichi Nakamura, Hidehiko Nakagawa, S 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
openalex   +1 more source

Moderate increase of MET in hepatocytes protects against cholestatic liver injury by promoting an effective antioxidant response

The FEBS Journal, EarlyView.
Moderate overexpression of wild‐type Met in hepatocytes (Alb‐R26Met mouse model) boosts a strong antioxidant response dependent on the glutathione system while impairing TGF‐β signaling in the liver. This leads to improved liver regeneration and protects against DDC‐induced injury, a model for cholestatic disease sharing features with primary ...
Carlos González‐Corralejo, Juan García‐Sáez, María Figueroa‐Fuentes, Annalisa Addante, Cesáreo Roncero, Nerea Lazcanoiturburu, Beatriz Pacheco, Julián Sanz, Cristina Gato, Eva Fernández‐Calderón, María de la O López, Águeda González‐Rodríguez, Almudena Porras, Flavio Maina, Isabel Fabregat, Blanca Herrera, Aránzazu Sánchez   +16 more
wiley   +1 more source