Results 291 to 300 of about 1,771,671 (365)

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown   +6 more
wiley   +1 more source

Human TDP43 is required for ALS‑related annexin A11 toxicity in Drosophila. [PDF]

open access: yesBiomed Rep
Barnard J   +5 more
europepmc   +1 more source

Gromomycins: An Unprecedented Class of Triterpene Antibiotics Produced by a Novel Biosynthetic Pathway

open access: yesAngewandte Chemie, EarlyView.
Gromomycins represent a novel class of pentacyclic triterpene antibiotics with a unique biosynthetic pathway independent of the squalene route. These compounds exhibit potent activity against drug‐resistant Gram‐positive pathogens, including MRSA, and their unprecedented cyclization mechanism provides new insight into bacterial triterpene biosynthesis.
Stepan Tistechok   +11 more
wiley   +1 more source

Evolution‐Guided Discovery of Antimycobacterial Triculamin‐Like Lasso Peptides

open access: yesAngewandte Chemie, EarlyView.
The hypothesized convergent biosynthesis of triculamin‐like lasso peptides from different biosynthetic gene cluster (BGC) types represented across multiple bacterial phyla. The elucidation of the triculamin non‐canonical BGC and resistance mechanism by heterologous expression in Streptomyces albus and in vitro acetylation with resistance conveying ...
Aske Merrild   +3 more
wiley   +1 more source

Saarvienin A—A Novel Glycopeptide with Potent Activity against Drug‐Resistant Bacteria

open access: yesAngewandte Chemie, EarlyView.
A structurally distinct glycopeptide, saarvienin A, represents a new family of glycopeptide antibiotics consisting of five sugar/aminosugar units connected to a halogenated peptide core. Saarvienin A overcomes vancomycin resistance and shows strong activity against drug‐resistant Gram‐positive bacteria, in particular, high‐priority pathogens such as ...
Amninder Kaur   +7 more
wiley   +1 more source

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