Results 121 to 130 of about 717,864 (344)

Mutation of the RIIβ Subunit of Protein Kinase A Differentially Affects Lipolysis but Not Gene Induction in White Adipose Tissue [PDF]

, 1999
Josep V. Planas, David E. Cummings, Rejean L. Idzerda, G. Stanley McKnight   +3 more
openalex   +1 more source

Structural and functional characterization of chitinase from carnivorous plant Drosera adelae

FEBS Open Bio, EarlyView.
A class I chitinase from the carnivorous plant Drosera adelae was expressed and purified using a yeast system, revealing high enzymatic activity. Structural analyses of the catalytic and chitin‐binding domains identified key tyrosine residues involved in substrate binding, offering insights into the enzyme's adaptation for insect digestion.
Kazunari Yoneda, Yuki Naruse, Yusaku Suizu, Tomohiro Araki, Yoshikazu Hoshi, Haruhiko Sakuraba, Junji Hayashi, Toshihisa Ohshima   +7 more
wiley   +1 more source

ATG4B is required for mTORC1‐mediated anabolic activity and is associated with clinical outcomes in non‐small cell lung cancer

FEBS Open Bio, EarlyView.
The relationship between anabolic and catabolic processes governing lung cancer cell growth is nuanced. We show that ATG4B, an autophagy regulator, is elevated in lung cancer and that high ATG4B is associated with worse patient outcomes. Targeting ATG4B in cells reduces growth, protein synthesis, and mTORC1 activity, demonstrating a new relationship ...
Patrick J. Ryan, Bethany C. Guerra, Selina Uranga, Jessica M. Cardin, Steven E. Riechman, Mariana Janini Gomes, James D. Fluckey   +6 more
wiley   +1 more source

Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks [PDF]

, 2001
Yoshihiro Hotta
openalex   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses [PDF]

, 2001
Elizabeth M. Santschi, Paul D. Vrotsos, Amanda K. Purdy, James R. Mickelson   +3 more
openalex   +1 more source

An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report [PDF]

, 2021
Lucia Trevisan, Matteo Grazzini, Annalia Cianflone, Andrea Accogli, Cinzia Finocchi, Elisabetta Capello, Laura Saitta, Marina Grandis, Luca Roccatagliata, Paola Mandich   +9 more
openalex   +1 more source

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene [PDF]

, 2018
Purpose: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). Methods: All accessible family members were included.
Ambresin, Aude, Arsenijevic, Yvan, Borruat, François‐Xavier, El Matri, Leila, Kawasaki, Aki, Munier, Francis, Schorderet, Daniel, Seeliger, Mathias, Wenzel, Andreas   +8 more
core  

Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald, Michela Guglieri, Dragana Vučinić, Gyula Acsadi, John F. Brandsema, Claudio Bruno, Erika L. Finanger, Amy Harper, Mercedes Lopez Lobato, Riccardo Masson, Nuria Muelas, Francina Munell, Yoram Nevo, Yann Péréon, Han Phan, Valeria A. Sansone, Mariacristina Scoto, Tracey Willis, Richard S. Finkel, Krista Vandenborne, Sara Cazzaniga, Silvia Montrasio, Federica Alessi, Paolo Bettica, Eugenio Mercuri, for the Givinostat Study 51 Investigators, the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS) Investigators, the ImagingDMD Investigators, Enrico Bertini, Giacomo Pietro Comi, Eugenio Maria Mercuri, Giuseppe Vita, Sonia Messina, Claudio Bruno, Riccardo Masson, Valeria Sansone, Nathalie Goemans, Liesbeth De Waele, Laurent Servais, Teresa Gidaro, Odile Boespflug‐Tanguy, Yann Péréon, Jessika Johannsen, Astrid Blaschek, Ulrike Schara‐Schmidt, Erik Niks, Imelda de Groot, Saskia Houwen‐van Opstal, Andres Nascimento, Juan Jesus Vilchez, Nuria Muelas, Francina Munell, Marcos Madruga Garrido, Mercedes Lopez Lobato, Michaela Guglieri, Tracey Willis, Stefan Spinty, Daniel Hawcutt, Mariacristina Scoto, Jean K. Mah, Laura McAdam, Kathryn Selby, Katherine Mathews, Craig McDonald, Craig Zaidman, Barry Byrne, John Brandsema, Gyula Acsadi, Chamindra Laverty, Amy Harper, Erika Finanger, Han Phan, Yoram Nevo, Vedrana Milic Rasic, Dragana Vucinic   +74 more
wiley   +1 more source

Ectopic White Matter Neurons, a Developmental Abnormality That May Be Caused by thePSEN1S169L Mutation in a Case of Familial AD with Myoclonus and Seizures [PDF]

, 2001
Masaki Takao, Bernardino Ghetti, Jill R. Murrell, Frederick W. Unverzagt, Giorgio Giaccone, Fabrizio Tagliavini, Orso Bugiani, Pedro Piccardo, Christine M. Hulette, Barbara J. Crain, Martin R. Farlow, Albert Heyman   +11 more
openalex   +1 more source