Results 51 to 60 of about 378,797 (150)

Sudden unexpected death in asymptomatic infants due to PPA2 variants

Molecular Genetics & Genomic Medicine, 2020
Background Sudden death in children is a tragic event that often remains unexplained after comprehensive investigation. We report two asymptomatic siblings who died unexpectedly at approximately 1 year of age found to have biallelic (compound ...
Colin K. L. Phoon, Matthew Halvorsen, David B. Goldstein, Rachel Rabin, Frank Cecchin, Laura Crandall, Orrin Devinsky   +6 more
doaj   +1 more source

Uncatalyzed Guanosine Phosphorylation under Potentially Prebiotic Conditions

Chemistry – A European Journal, EarlyView.
Pyrophosphate acts as phosphorylating agent of guanosine under simple wet‐dry cycles without condensing agent and inorganic catalysts to afford cyclic guanosine monophosphate derivatives useful for oligomerization in prebiotic processes. ABSTRACT The phosphorylation of nucleosides and their subsequent polymerization are key issues in the study of the ...
Martina Proietti, Bruno Mattia Bizzarri, Elisa De Marchi, Alessandra Giorgi, Raffaele Saladino, Giovanna Costanzo   +5 more
wiley   +1 more source

Inorganic pyrophosphatase is targeted to peroxisomes in different species by various mechanisms.

, 2014
(A) 3′ sequence of the C. elegans pyp-1 gene encoding inorganic pyrophosphatase (Gene ID: 177856) and its translation. The readthrough element and the PTS1 are highlighted. The reaction catalyzed by inorganic pyrophosphatase is shown.
Julia Ast (650082), Alina C. Stiebler (650079), Johannes Freitag (221216), Thorsten Stehlik (650080), Britta A. M. Tillmann (650081), Michael Bölker (221220), Kay O. Schink (628123)   +6 more
core   +1 more source

Identification and characterization of an ecto-pyrophosphatase activity in intact epimastigotes of Trypanosoma rangeli. [PDF]

PLoS ONE, 2014
In this study, we performed the molecular and biochemical characterization of an ecto-enzyme present in Trypanosoma rangeli that is involved with the hydrolysis of extracellular inorganic pyrophosphate.
André Luiz Fonseca-de-Souza, Anita Leocadio Freitas-Mesquita, Lisvane Paes Vieira, David Majerowicz, Nathalia Daflon-Yunes, Lia Carolina Almeida Soares-de-Medeiros, Kildare Miranda, Katia Calp Gondim, José Roberto Meyer-Fernandes   +8 more
doaj   +1 more source

Different from bone: Tooth formation and enameloid mineralization are not affected by reduced dietary phosphorus intake

Developmental Dynamics, EarlyView.
Abstract Background Vertebrates rely on phosphorus intake for skeletal mineralization. In humans, hypomineralized teeth associated with rickets, hypophosphatemia, hypophosphatasia, or idiopathic molar‐incisor‐hypomineralization pose significant problems.
S. Cotti, A. Huysseune, I. A. K. Fiedler, B. Busse, C. Di Biagio, M. Rücklin, F. Marone, A. Forlino, P. E. Witten   +8 more
wiley   +1 more source

Inorganic pyrophosphatase in uncultivable hemotrophic mycoplasmas: identification and properties of the enzyme from Mycoplasma suis

BMC Microbiology, 2010
Background Mycoplasma suis belongs to a group of highly specialized hemotrophic bacteria that attach to the surface of host erythrocytes. Hemotrophic mycoplasmas are uncultivable and the genomes are not sequenced so far.
Wittenbrink Max M, Kramer Manuela M, Sidler Michele, Peter Simone, Hoelzle Katharina, Felder Kathrin M, Hoelzle Ludwig E   +6 more
doaj   +1 more source

Aspartic Protease Inhibition Induces Proteomic Remodeling in Paracoccidioides brasiliensis

PROTEOMICS, EarlyView.
ABSTRACT Paracoccidioidomycosis (PCM) is a major systemic mycosis in Latin America caused by Paracoccidioides brasiliensis, yet the contribution of aspartic proteases to fungal physiology and pathogenicity remains poorly understood. Here, we employed data‐independent acquisition (DIA)‐based quantitative proteomics to investigate the impact of pepstatin
Sarah Fernandes Lima, Wilson Dias Segura, Leonardo Brogliato de Moraes, Reinaldo Souza Oliveira, Pedro Henrique Corteletti Manfio, Alison Felipe Alencar Chaves, Wagner Luiz Batista   +6 more
wiley   +1 more source

Pyrophosphatase and DNA Polymerase activity of wt and site-specific variants of α subunit.

, 2016
A) Pyrophosphatase activity of 17 nM wt (green dots), 17 nM H12A (blue dots), or 13 nM D19A (red dots) α subunit. B,C) DNA Polymerase activity as determined in the presence (B) or in the absence of E. coli inorganic pyrophosphatase (C).
Massimiliano Lanzi (1463971), Perceval Vellosillo Gonzalez (2601454), Alejandro Hochkoeppler (2082769), Fabio Lapenta (2601445), Sofia Perticarari (2601448), Alejandro Montón Silva (2601451), Renato Brandimarti (617022), Fabio Lino Gratani (2601457)   +7 more
core   +1 more source

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, Volume 20, Issue 11, Page 2936-2954, November 2026.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

Nucleoside‐Modified mRNA Encoding Alpha‐Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC‐Derived Cardiomyocytes

Advanced Science, Volume 13, Issue 61, 3 November 2026.
Human iPSC‐derived Fabry cardiomyocytes exhibited broad transcriptional dysregulation, apoptosis, mitochondrial dysfunction, impaired reactive oxygen species handling, altered contractility, and abnormal calcium transient decay, potentially mediated by phospholamban hyperphosphorylation.
Malte Juchem, Lea Oehlsen, Sedef Ersoy, Jia Li Ye, Natalie Weber, Elisa Mohr, Wilson Agyapong, Junqing Liu, Maximilian Fuchs, Ke Xiao, Christopher Jahn, Reto Eggenschwiler, Tobias Cantz, Julia Beimdiek, Falk F. R. Buettner, Theresia Kraft, Jan Hegermann, Ivonne J. Knorr, Lisa Ernst, Linda Feldbrügge, Resa Puffert, Kevin Schmidt, Christian Bär, Jeannine Hoepfner, Thomas Thum   +24 more
wiley   +1 more source