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Lysosomal Storage Disorders - Europe PMC

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Last Updated: 02 April 2022

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Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.

Diseases related to lysosomal disease can be lethal and are referred to as lysosomal storage disorders, which affect 1 in every 5000 live births worldwide. LSDs are hereditary metabolic disorders caused by single lysosomal and non-lysosomal proteins mutations, resulting in the subsequent accumulation of macromolecules within. Patients with neurodegenerative clinical signs and organ damage, as well as organ damage. Examples from Niemann-Pick disease type C, Fabry disease, neuronal ceroid-lipofuscinoses, mucopolysaccharidosis, Krabbe disease, mucoeliposis, mucopolysaccharidosis, Mucosaccharidosis, Krabbe disease, mucopologosis, Mucolipidosis, Gaucher disease, and Gaucher disease are discussed in this study.

Source link: https://europepmc.org/article/MED/35343995


Blood-brain barrier delivery for lysosomal storage disorders with IgG-lysosomal enzyme fusion proteins.

The majority of lysosomal storage disorders related to the brain. Intravenous enzyme replacement therapy for the brain is not fruitful, because the recombinant lysosomal enzymes do not cross the blood-brain barrier. The IgG is transported across the BBB in parallel with the endogenous receptor ligand, and the IgG acts as a molecular Trojan horse to ferry the lysosomal enzyme genetically fused to the IgG.

Source link: https://europepmc.org/article/MED/35307484


Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders.

T cells are the most commonly used in numerous cell therapy applications. Ex vivo reprograms T cells, improving their memory stability and readiness for life, while also decreasing inflammatory activity and the amount of preparative conditioning required for engraftment. T cells conditioned by Rapamycin have been tested in patients and have been found to be safe to use in a variety of settings, with reduced incidence of infusion-related adverse events. Ex vivo lentivirus-modified, rapamycin-conditioned CD4+ T cells, as well as "micropharmacies" to disseminate corrective enzymes for multiple lysosomal storage disorders.

Source link: https://europepmc.org/article/MED/35298086


Mesenchymal Stem Cell-Based Therapy for Lysosomal Storage Diseases and Other Neurodegenerative Disorders.

Lysosomal storage disorders are a group of approximately 50 genetic disorders that are caused by mutations in gene coding enzymes involved in cell degradation and transporting lipids and other macromolecules. In several LSDs stem cell-based therapies, promising results were observed in preclinical studies. This review explores the use of mesenchymal stem cells for various LSDs therapy and other neurodegenerative disorders, as well as their potential drawbacks.

Source link: https://europepmc.org/article/MED/35308211


The surgical management of spinal disorders in lysosomal storage diseases: a systematic review.

Biological characterizations of lysosomal storage diseases are largely resistant to available therapeutic strategies. "What are the confirmed indications for spinal deformity in patients with LSDs?" the question was asked. Extracted research findings included: study type, sample size, research design, and year of publication. As surgical indications, radiological evidence of myelopathy at the craniocervical junction and/or progressive clinical compromise were accepted as surgical indications. The recommended surgical procedure and whether to stabilise and/or decompress depended on the journal and LSD types. Twenty-one papers addressed thoracolumbar pathology, including thoracolumbar kyphosis and scoliosis. Most papers advocate circumferential arthrodesis by combining anterior and posterior methods. Conclusion The surgical treatment of spinal abnormalities in LSDs in LSDs is still disputed. To foster recommendations for diagnosis of the spinal manifestations, centers that care for these patients should be encouraged to have a standardised system of reporting findings.

Source link: https://europepmc.org/article/MED/34984775

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions