Results 291 to 300 of about 156,351 (339)
Movement Disorders, EarlyView.Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism‐of‐action of these compounds will facilitate development of GBA1‐modulating
Mark J. Henderson +5 more
wiley +1 more source
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]
, 2019 Ahmed, Alia +8 more
core +1 more source
Movement Disorders, EarlyView.Abstract Background Membrane contact sites are crucial for the exchange of ions or lipids and thus are critical for the function and maintenance of organelles. VPS13A is a membrane‐residing, bridge‐like protein connecting two membranes to enable bulk lipid transfer. Loss‐of‐function mutations in the VPS13A gene cause VPS13A disease.
Dajana Grossmann +10 more
wiley +1 more source
Enteric nervous system disease in neuronopathic lysosomal storage disorders
Ewa Ziółkowska +2 more
openalex +1 more source
Movement Disorders, EarlyView.Abstract Background Recent advances in proteomic profiling have enabled its use as a powerful approach in elucidating molecular mechanisms underlying Parkinson's disease, enabling the identification of disease‐associated protein alterations and candidate biomarkers for diagnosis, progression, and therapeutic response.
Victoria J. Dardov +21 more
wiley +1 more source
The frequency of lysosomal storage diseases in The Netherlands
, 1999 B.J.H.M. Poorthuis +7 more
openalex +1 more source
Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers
Movement Disorders, EarlyView.Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes +7 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Migrasomes, Matrix‐Bound Nanovesicles, and More: Messengers in the Matrix
PROTEOMICS, EarlyView.ABSTRACT Extracellular vesicles (EVs) and particles (EPs) are diverse micro‐ and nanoparticles that circulate in bodily fluids and can attach to, or be deposited onto, the extracellular matrix (ECM) and other surfaces. To date, the nomenclature and classification of matrix‐bound or matrix‐associated EVs and EPs (MEVPs) have been unclear, largely due to
Anna V. Kolesov +3 more
wiley +1 more source
Phytotherapy Research, EarlyView.ABSTRACT Psychological stress (or simply “stress”) is a major contributor to chronic disease worldwide, affecting 35% of the global population, including younger generations. Furthermore, it plays a significant role in human premature aging; hence, its detrimental effects on people's health compel us to comprehend and control the ways in which ...
Marco Duarte +3 more
wiley +1 more source