Anderson, Brandon D. Lee, Timothy Bell, Brent Song, Ying Dunaief, Joshua L.
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Disease Models & Mechanisms
Summary: Knocking out the ferroxidase ceruloplasmin in an iron-overloaded mouse model of hereditary hemochromatosis increases the rate and severity of retinal pigment epithelium damage and retinal degeneration.
Boccanegra, Brigida Mantuano, Paola Conte, Elena Cerchiara, Alessandro Giovanni Tulimiero, Lisamaura Quarta, Raffaella Caputo, Erika Sanarica, Francesca Forino, Monica Spadotto, Valeria
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Disease Models & Mechanisms
Summary: This study investigates the mechanical-metabolic uncoupling of dystrophic myofibers and the possible alteration of liver kinase B1, as a key player in modulating metabolism and epigenetic regulation of skeletal muscle.
Matsumoto, Toshihiko Terai, Shuji Oishi, Toshiyuki Kuwashiro, Shinya Fujisawa, Koichi Yamamoto, Naoki Fujita, Yusuke Hamamoto, Yoshihiko Furutani-Seiki, Makoto Nishina, Hiroshi
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Disease Models & Mechanisms
Marín-Rubio, José L. Raote, Ishier Inns, Joseph Dobson-Stone, Carol Rajan, Neil
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Disease Models & Mechanisms
Summary: Advances in the study of the cylindromatosis gene ( CYLD ), utilising diverse models, provide new insights into cellular homeostasis and human diseases.
Kubota, Tomoya Takahashi, Satoe Yamamoto, Risa Sato, Ruka Miyanooto, Aya Yamamoto, Reina Yamauchi, Kosuke Homma, Kazuaki Takahashi, Masanori P
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Disease models & mechanisms
Hypokalemic periodic paralysis (HypoPP) is a rare genetic disease associated with mutations in CACNA1S or SCN4A encoding the voltage-gated Ca2+ channel Cav1.1 or the voltage-gated Na+ channel Nav1.4, respectively. Most HypoPP-associated missense changes occur at the arginine residues within the voltage-sensing domain (VSD) of these channels. It is ...
Zhang, Tejia Alonzo, Ivy Stubben, Chris Geng, Yijie Herdman, Chelsea Chandler, Nancy Doane, Kim P. Pluimer, Brock R. Trauger, Sunia A. Peterson, Randall T.
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Disease Models & Mechanisms
Editors' choice: Using a new zebrafish model of combined saposin deficiency, a lysosomal storage disease, we examine both pharmacological and genetic approaches toward sphingolipidosis treatment.
Bonzano, Sara Dallorto, Eleonora Molineris, Ivan Michelon, Filippo Crisci, Isabella Gambarotta, Giovanna Neri, Francesco Oliviero, Salvatore Beckervordersandforth, Ruth Lie, Dieter Chichung
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Disease models & mechanisms
The nuclear receptor NR2F1 acts as a strong transcriptional regulator in embryonic and postnatal neural cells. In humans, mutations in the NR2F1 gene cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a rare neurodevelopmental disorder characterized by multiple clinical features including vision impairment, intellectual disability and aut...
Reggio, Alessio De Paolis, Francesca Bousselmi, Salma Cicciarelli, Felice Bernardini, Sergio Rainer, Alberto Seliktar, Dror Testa, Stefano Cirillo, Carmine Grumati, Paolo
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Disease Models & Mechanisms
Summary: LY2090314 suppresses 2D and 3D adipogenesis of fibro/adipogenic progenitors by stabilizing a transcriptional-competent β-catenin complex.
Grochowska, Martyna M Ferraro, Federico Carreras Mascaro, Ana Natale, Domenico Winkelaar, Amber Boumeester, Valerie Breedveld, Guido J Bonifati, Vincenzo Mandemakers, Wim
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Disease models & mechanisms
Astrocytes are the most populous cell type of the human central nervous system and are essential for physiological brain function. Increasing evidence suggests multiple roles for astrocytes in Parkinson's disease, nudging a shift in the research focus, which historically pivoted around ventral midbrain dopaminergic neurons (vmDANs). Studying human ...
Fernández-Costa, Juan M Tejedera-Vilafranca, Ainoa Fernández-Garibay, Xiomara Ramón-Azcón, Javier
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Disease models & mechanisms
Muscular dystrophies are a heterogeneous group of highly debilitating diseases that result in muscle atrophy and weakness. The lack of suitable cellular and animal models that reproduce specific aspects of their pathophysiology is one of the reasons why there are no curative treatments for these disorders. This highlights a considerable gap between...
