Results 101 to 110 of about 1,444,936 (298)

Characterization of WAC interactions with R2TP and TTT chaperone complexes linking glucose and glutamine availability to mTORC1 activity

open access: yesFEBS Open Bio, EarlyView.
TTT and R2TP chaperone complexes are required for the assembly and activation of mTORC1. WAC directly interacts with components of TTT, R2TP, and mTORC1, and these interactions are affected by the availability of glucose and glutamine, correlating with changes in mTORC1 activity.
Sofía Cabezudo   +11 more
wiley   +1 more source

Nitric oxide‐forming nitrite reductases in the anaerobic ammonium oxidizer Kuenenia stuttgartiensis

open access: yesFEBS Open Bio, EarlyView.
Anammox bacteria remove fixed nitrogen from their environment via anaerobic ammonium oxidation (anammox) with nitrite as electron acceptor and dinitrogen gas as product. The first anammox step is the conversion of nitrite to nitric oxide by nitrite reductase.
Femke J. Vermeir   +4 more
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

Costo-efectividad de métodos diagnósticos en apendicitis, revisión sistemática

open access: yesRevista Colombiana de Cirugía
Introducción. El diagnóstico de apendicitis puede ser difícil en algunos casos, por lo cual requiere el uso de técnicas diagnósticas tales como el ultrasonido y la tomografía computadorizada.
César Augusto Guevara   +1 more
doaj  

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

3D MRI Tract‐Specific Spinal Cord Lesion Pattern Improves Prediction of Distinct Neurological Recovery

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To distinguish lateralized motor‐ and sensory‐tract damage after acute spinal cord injury (SCI) and explore its predictive power for motor and sensory recovery. Methods Thirty‐five SCI patients (two female) from a multi‐center data set (placebo‐arm of the Nogo‐A‐Inhibition in SCI trial) underwent routine T2‐weighted sagittal MRI ...
Lynn Farner   +7 more
wiley   +1 more source

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