BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
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
Proportions of Basement Membrane Proteins in Cerebrovascular Smooth Muscle Cells After Exposure to Hypercapnia and Amyloid Beta. [PDF]
Dewing JM+9 more
europepmc +1 more source
Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia
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
Recombinant humanized collagen combined with nicotinamide increases the expression level of rat basement membrane proteins and promotes hair growth. [PDF]
Zhou Y+6 more
europepmc +1 more source
Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu+13 more
wiley +1 more source
Editorial on the Themed Issue in Honor of Carlos Gutiérrez Merino: Forty Years of Research Excellence in the Field of Membrane Proteins and Bioenergetics. [PDF]
Samhan-Arias AK+2 more
europepmc +1 more source
Optimized <i>Legionella</i> expression strain for affinity purification of His-tagged membrane proteins eliminates major multimeric contaminant. [PDF]
Vijayrajratnam S+8 more
europepmc +1 more source
Lipid liquid-crystalline nanoparticles as a suitable platform for accommodating sensitive membrane proteins: monitoring the activity of HMG-CoA reductase. [PDF]
Zaborowska-Mazurkiewicz M+2 more
europepmc +1 more source