Results 191 to 200 of about 182,062 (331)

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

In biomakromolekularen Komplexen können protonierte Glutamat‐ und Aspartat‐Seitenketten durch kurze und starke Wasserstoffbrückenbindungen zur Phosphodiestergruppenerkennung beitragen

Angewandte Chemie, EarlyView.
Die stark negativ geladenen Phosphodiestergruppen von Nukleinsäuren und zyklischen (Di‐)Nukleotiden interagieren häufig mit Aminosäuren, die polare oder positiv geladene Seitenketten enthalten. Aufgrund der Ladungsabstoßung mit ihren negativ geladenen Carboxylatgruppen enthaltenden Seitenketten gelten Glutamat und Aspartat generell als ungeeignet für ...
Konstantin Neißner, Elke Duchardt‐Ferner, Christoph Wiedemann, Julian Kraus, Ute A. Hellmich, Jens Wöhnert   +5 more
wiley   +1 more source

The NADPH oxidase NOX4 regulates redox and metabolic homeostasis preventing HCC progression

Hepatology, EarlyView., 2022
Loss of NOX4 in HCC tumor cells induces metabolic reprogramming in a Nrf2/MYC‐dependent manner to promote HCC progression. Abstract Background and Aims The NADPH oxidase NOX4 plays a tumor‐suppressor function in HCC. Silencing NOX4 confers higher proliferative and migratory capacity to HCC cells and increases their in vivo tumorigenic potential in ...
Irene Peñuelas‐Haro, Rut Espinosa‐Sotelo, Eva Crosas‐Molist, Macarena Herranz‐Itúrbide, Daniel Caballero‐Díaz, Ania Alay, Xavier Solé, Emilio Ramos, Teresa Serrano, María L. Martínez‐Chantar, Ulla G. Knaus, José M. Cuezva, Antonio Zorzano, Esther Bertran, Isabel Fabregat   +14 more
wiley   +1 more source

Rekombination hybrider Megasynthasen als Schlüssel für die Evolution metabolischer Diversität in Cyanobakterien

Angewandte Chemie, EarlyView.
Natürliche Kombinatorik: Die evolutionäre Rekombination und Anpassung von drei cyanobakteriellen Biosynthese‐Genclustern führte zur Entstehung von Minutumamiden, einer neuen Familie von Peptid‐Polyketid‐Hybriden. Mittels retro‐evolutionärer Analyse gelang die Entdeckung des Nostopeptolids KVJ3, einem evolutionären Vorfahren, der die Biosynthese von ...
Keishi Ishida, Qi Sun, Jonna Teikari, Christian Hertweck, Elke Dittmann, Masahiro Murakami, Martin Baunach   +6 more
wiley   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

A general assay platform to study protein pharmacology using ligand-dependent structural dynamics. [PDF]

Nat Commun
Ciulla DA, Dranchak PK, Aitha M, van Neer RHP, Shah D, Tharakan R, Wilson KM, Wang Y, Braisted JC, Inglese J.   +9 more
europepmc   +1 more source

Molecular basis for RNA discrimination by human DNA ligase 1. [PDF]

Nucleic Acids Res
Tumbale PP, Jurkiw TJ, Krahn JM, Bokil NV, Admiraal SJ, Pedersen LC, Williams JS, Kunkel TA, O'Brien PJ, Williams RS.   +9 more
europepmc   +1 more source

Update: Enzymatische Synthese für industrielle Anwendungen

Angewandte Chemie, EarlyView.
Die Biokatalyse hat sich zu einer nachhaltigen und wettbewerbsfähigen Alternative zur herkömmlichen chemischen Synthese entwickelt und ermöglicht die enzymbasierte Herstellung nicht nur von chemischen Grundstoffen, sondern auch von (nicht natürlichen) Aminosäuren, (seltenen) Zuckern und synthetischen Nukleotiden.
Thomas Bayer, Shuke Wu, Radka Snajdrova, Kai Baldenius, Uwe T. Bornscheuer   +4 more
wiley   +1 more source

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +1 more source