Results 91 to 100 of about 356,376 (266)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni   +19 more
wiley   +1 more source

Nucleocapsid Protein Precursors NCp9 and NCp15 Suppress ATP-Mediated Rescue of AZT-Terminated Primers by HIV-1 Reverse Transcriptase. [PDF]

open access: yesAntimicrob Agents Chemother, 2020
Árquez MA   +5 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit   +11 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

Protein transport into mitochondria [PDF]

open access: yes, 1987
Pfanner, Nikolaus   +3 more
core   +1 more source

Protein-protein interactions of human somatic angiotensin-converting enzyme

open access: yes, 2011
In this study, novel disulphide bridges were engineered into the linker region of ACE [Angiotensin-converting enzyme] in an attempt to limit inter-domain movement, thereby producing a candidate for crystallisation and to determine the effect of these ...
Gordon, Kerry
core  

DNA‐Templated 2D Heterostructures as Phototriggered Dynamic Nanohybrids: From Releasing Molecular Loads to Controlling Enzyme Biocatalytic Function

open access: yesAdvanced Functional Materials, EarlyView.
DNA strands are employed both as dynamic linkers and nanoscale templates for the integration of Ag2S nanoparticles on MoS2, which in turn imparted photothermal responsiveness; this feature permits the selective cargo (fluorophore, quantum dots or an enzyme) release from the MoS2 surface in response to local heat induced by light irradiation.
Kai Chen   +3 more
wiley   +1 more source

Swelling‐Programmed Topographical Guidance for Dynamic Spheroid Self‐Assembly via a Mechanochemical Hydrogel Niche

open access: yesAdvanced Functional Materials, EarlyView.
A swelling‐programmed micropatterned hydrogel guides adherent cells through a controlled transition from cell–matrix anchoring to cadherin‐mediated cell–cell compaction, enabling rapid assembly of high‐viability spheroids with defined size and morphology.
Han Gyeol Nam   +8 more
wiley   +1 more source

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