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
Indolocarbazoles as host-directed therapeutics against intracellular infections by methicillin-resistant Staphylococcus aureus. [PDF]
van den Biggelaar RHGA+4 more
europepmc +1 more source
INTRACELLULAR LOCATION OF CAROTENOID PIGMENTS AND SOME RESPIRATORY ENZYMES IN SARCINA LUTEA [PDF]
Micheline M. Mathews, W. R. Sistrom
openalex +1 more source
Intracellular innate immune surveillance devices in plants and animals
Jonathan D. G. Jones, R. Vance, J. Dangl
semanticscholar +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
AI-Assisted Detection of Intracellular Bacteria in Peripheral Blood Granulocytes: A Case Report. [PDF]
You J, Zhang H, Zhou D.
europepmc +1 more source
IFI16 is an innate immune sensor for intracellular DNA
Leonie Unterholzner+14 more
semanticscholar +1 more source
Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont+4 more
wiley +1 more source
INTRACELLULAR DISTRIBUTION OF ENZYMES
Walter Schneider, George H. Hogeboom
openalex +1 more source