The Role of Exosomes in Lysosomal Storage Disorders
Biomolecules, 2021 Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason +3 more
doaj +1 more source
Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]
, 2017 Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María +5 more
core
VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in vivo. [PDF]
, 2015 Lysosomes are classically viewed as vesicular structures to which cargos are delivered for degradation. Here, we identify a network of dynamic, tubular lysosomes that extends throughout Drosophila muscle, in vivo. Live imaging reveals that autophagosomes
Davis, Graeme W +4 more
core +3 more sources
Trehalose alleviates the phenotype of Machado–Joseph disease mouse models [PDF]
, 2020 Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Cavadas, Cláudia +10 more
core +1 more source
Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities
Journal of Child Neurology, 2019 The leukodystrophies are a group of genetic metabolic diseases characterized by an abnormal development or progressive degeneration of the myelin sheath.
G. Maegawa
semanticscholar +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.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
Българска неврология, 2023 Lysosomal storage diseases involve about 50 rare genetic metabolic diseases engaging various mutations/pathological variants that cause enzyme deficiency and lysosomal dysfunction due to accumulation of certain substrates in them: lipids, glycoproteins,
Ivan Milanov +2 more
doaj
Lysossomal acid lipase activity in dried blood spots - preliminar results [PDF]
, 2017 Lysosomal storage diseases (LSDs) are a group of heterogeneous and multisystemic disorders caused by defects in enzymes responsible for the intralysosomal degradation of particular compounds. One of them is Lysosomal Acid Lipase Deficiency (LALD) that is
Alves, Sandra +2 more
core
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]
, 2019 Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga +5 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo +9 more
wiley +1 more source