Results 161 to 170 of about 347,689 (338)

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation [PDF]

open access: bronze, 2018
Bobby G. Ng   +14 more
openalex   +1 more source

Systematic Engineering of Proteases in Saccharopolyspora Spinosa Reveals Synergistic Enhancement of Spinosad Biosynthesis via Substrate Flux Optimization

open access: yesAdvanced Science, EarlyView.
ARTP mutagenesis yielded Saccharopolyspora spinosa mutant D184 with improved extracellular nitrogen utilization. An integrated workflow of protease genetic manipulation, multi‐omics, and rational synergy design pinpointed a pepP‐clpP‐htpX synergistic triangular combination.
Duo Jin   +9 more
wiley   +1 more source

Efficient Preparation of Homogenous Antibody Conjugates via Glycosite‐Specific Transglycosylation Enabled by Readily Available Glycosyl Donors

open access: yesAngewandte Chemie, EarlyView.
A streamlined platform for glycosite‐specific antibody conjugation is enabled by LacNAc‐derived cyclic acetal donors, which can be prepared in only two steps and used directly in single‐enzyme Endo S2‐mediated transglycosylation. The platform supports the broad construction of homogeneous gsADCs and gsDACs, with donor 7 producing glycoengineered ...
Deqin Cai   +13 more
wiley   +2 more sources

PIK3CA Mutations Downregulate PPT1 to Promote Adipogenesis by Suppressing P300 Depalmitoylation and Phase Separation

open access: yesAdvanced Science, EarlyView.
This study demonstrates that somatic PIK3CA mutations suppress PPT1 expression via activation of the PI3K–AKT–c‐JUN axis. This reduction in PPT1 weakens its interaction with P300, thereby increasing palmitoylation at C1176 of P300 and protecting P300 from lysosomal degradation.
Hongrui Chen   +7 more
wiley   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

open access: yesAmerican Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova   +10 more
wiley   +1 more source

Global characterization of mouse testis O-glycoproteome landscape during spermatogenesis

open access: yesNature Communications
Protein O-glycosylation plays critical roles in sperm formation and maturation. However, detailed knowledge on the mechanisms involved is limited due to lacking characterization of O-glycoproteome of testicular germ cells. Here, we performed a systematic
Qiannan Liu   +10 more
doaj   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi   +16 more
wiley   +1 more source

Neurofilament Proteoforms in Amyotrophic Lateral Sclerosis Are Different in Cerebrospinal Fluid and Blood

open access: yesAnnals of Neurology, EarlyView.
We used targeted immunopurification‐mass spectrometry (IP‐MS) to characterize human neurofilament light chain (NfL) proteoforms across various compartments to assess their alterations in amyotrophic lateral sclerosis (ALS). NfL is truncated in cerebrospinal fluid (CSF) and blood in patients with sporadic ALS (sALS) and these proteoforms differ between ...
John B. Coulton   +11 more
wiley   +1 more source

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