Kinetic, Spectral, and Structural Characterization of a Heme-Containing Peroxidase From the Skin of <i>Cucurbita maxima</i>. [PDF]
Jackson A+8 more
europepmc +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger+16 more
wiley +1 more source
Influence of pH-shifting combined with ultrasound on the structure and emulsification characteristics of coconut meal globulin. [PDF]
Zhao W, Zhang Q, Chen F, Du Z, Yu Z.
europepmc +1 more source
Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam+6 more
wiley +1 more source
BCR::ABL1-positive acute lymphoblastic leukemia as a high-risk feature of central nervous system relapse after allogeneic hematopoietic cell transplantation. [PDF]
Lee JH+13 more
europepmc +1 more source
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann+6 more
wiley +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas+18 more
wiley +1 more source
Association of Estimated Plasma Volume Status With Invasive Hemodynamics and Adverse Clinical Outcomes in Patients With Pulmonary Hypertension and Chronic Kidney Disease. [PDF]
Geller A+12 more
europepmc +1 more source