Results 11 to 20 of about 238,474 (313)
Nature Reviews Disease Primers, 2018 Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur.
Platt, F +4 more
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Molecular Therapy: Methods & Clinical Development, 2020 Identification and characterization of disease-associated variants in monogenic disorders is an important aspect of diagnosis, genetic counseling, prediction of disease severity, and development of therapy.
Mike Broeders +7 more
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JIMD Reports, 2020 Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems.
Gloria Muñoz +11 more
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Distinct Lysosomal Network Protein Profiles in Parkinsonian Syndrome Cerebrospinal Fluid. [PDF]
, 2016 BackgroundClinical diagnosis of parkinsonian syndromes like Parkinson's disease (PD), corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) is hampered by overlapping symptomatology and lack of diagnostic biomarkers, and definitive ...
Boman, Andrea +8 more
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Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Structure and Function, 2023 Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes ...
Asuka Hamamoto +7 more
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Age- and stress-associated C. elegans granulins impair lysosomal function and induce a compensatory HLH-30/TFEB transcriptional response. [PDF]
, 2019 The progressive failure of protein homeostasis is a hallmark of aging and a common feature in neurodegenerative disease. As the enzymes executing the final stages of autophagy, lysosomal proteases are key contributors to the maintenance of protein ...
Ashrafi, Kaveh +10 more
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Translational Science of Rare Diseases, 2016 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses,
Ferreira, Carlos R., Gahl, William A.
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Journal of Lipid Research, 2011 A central feature of Niemann-Pick Type C (NPC) disease is sequestration of cholesterol and glycosphingolipids in lysosomes. A large phenotypic variability, on both a clinical as well as a molecular level, challenges NPC diagnosis.
Carolina Tängemo +4 more
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Tau accumulation in degradative organelles is associated to lysosomal stress
Scientific Reports, 2023 Neurodegenerative disorders are characterized by the brain deposition of insoluble amyloidogenic proteins, such as α-synuclein or Tau, and the concomitant deterioration of cell functions such as the autophagy-lysosomal pathway (ALP).
Ester Piovesana +7 more
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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
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