Results 141 to 150 of about 2,797,849 (300)

A methionine‐lined active site governs carbocation stabilization and product specificity in a bacterial terpene synthase

FEBS Letters, EarlyView.
This study reveals a unique active site enriched in methionine residues and demonstrates that these residues play a critical role by stabilizing carbocation intermediates through novel sulfur–cation interactions. Structure‐guided mutagenesis further revealed variants with significantly altered product profiles, enhancing pseudopterosin formation. These
Marion Ringel, Carl P. O. Helmer, Shani Zev, Ronja Driller, Emily Buhr, Markus Reinbold, Renana Schwartz, Gabriel Foley, Mikael Boden, Daniel Garbe, Gerhard Schenk, Dan Thomas Major, Bernhard Loll, Thomas Brück   +13 more
wiley   +1 more source

Neuropathological analysis of an ALS patient carrying a SOD1 missense variant and a C9orf72 repeat expansion. [PDF]

Acta Neuropathol
Miki T, De Bertier S, Amador MD, Nicolas M, Guissart C, Deret M, Teyssou E, Muratet F, Bohl D, Lobsiger CS, Boillée S, Esselin F, Salachas F, Millecamps S, Seilhean D.   +14 more
europepmc   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

A novel pathogenic AIP variant associated with familial isolated pituitary adenoma. [PDF]

Pituitary
Marino Picciola V, Crociara A, Piacentini S, Rossi L, Ambrosio MR, Gessi M, d'Amati A, Rubini M, Zatelli MC.   +8 more
europepmc   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism. [PDF]

Pigment Cell Melanoma Res
Gillis MF, Ames MR, Lundh L, Gotea V, Elnitski L, Donovan F, NISC Comparative Sequencing Program, Adeyemo A, Rotimi C, Brooks B, Zein W, Gahl W, Oetting WS, Adams DR, Loftus SK.   +14 more
europepmc   +1 more source

$m$-Modular Wythoff

We introduce a variant of Wythoff's Game that we call $m$-Modular Wythoff's Game. In the original Wythoff's Game, players can take a positive number of tokens from one pile, or they can take a positive number of tokens from both piles if the number of ...
Khovanova, Tanya, Niu, Shuheng
core  

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis. [PDF]

Liver Int
Morel P, Silva Rodriguez M, Benmouffek C, Goksen B, Chéry C, Haghnejad V, Bensenane M, Feillet F, Guéant JL, Namour F, Bronowicki JP, Oussalah A.   +11 more
europepmc   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source