BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
Journal of Lipid Research, 1991 Free vulpecholic acid (1 alpha,3 alpha,7 alpha-trihydroxy-5 beta-cholan-24-oic) is the major biliary component of the Australian opossum (Trichosurus vulpecula), accompanied only by a few percent of its taurine conjugate.
J St Pyrek +4 more
doaj
Advanced ScienceBioenergetic therapy is emerging as a promising therapeutic approach. However, its therapeutic effectiveness is restricted by metabolic plasticity, as tumor cells switch metabolic phenotypes between glycolysis and oxidative phosphorylation (OXPHOS) to ...
Xiangjun Wei +7 more
doaj +1 more source
High resolution mass spectrometry in molecular structure and stereochemical studies - Effect of stereochemistry on the fragmentation of epimeric derivatives of azabicycloalkanes [PDF]
High resolution mass spectrometry in studies of stereochemistry effect on fragmentation of epimeric derivatives of ...
Burlingame, A. L. +2 more
core +1 more source
Mass spectrometry of alditols as trimethylsilyl derivatives [PDF]
, 1969 Göran Petersson
openalex +1 more source
Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro +12 more
wiley +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source
Analyses of moisture in polymers and composites [PDF]
A suitable method for the direct measurement of moisture concentrations after humidity/thermal exposure on state of the art epoxy and polyimide resins and their graphite and glass fiber reinforcements was investigated.
Ryan, L. E., Vaughan, R. W.
core +1 more source
Spatial and temporal variation in otolith chemistry for tautog (Tautoga onitis) in Narragansett Bay and Rhode Island coastal ponds [PDF]
, 2010 The elemental composition of otoliths may provide valuable information for establishing connectivity between fish nursery grounds and adult fish populations. Concentrations of Rb, Mg, Ca, Mn, Sr, Na, K, Sr, Pb, and Ba were determined by using solution-
Bengtson, David A. +5 more
core
Mass Spectrometry of Terpenes. I. Monoterpene Hydrocarbons. [PDF]
, 1963 Ragnar Ryhage +4 more
openalex +1 more source