Advances in clinical chemistry, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 52
Published: Jan. 1, 2024
Language: Английский
Molecular Therapy, Journal Year: 2024, Volume and Issue: 32(9), P. 2930 - 2938
Published: June 7, 2024
Language: Английский
Citations
5
Enfermería Clínica, Journal Year: 2025, Volume and Issue: unknown, P. 502167 - 502167
Published: Jan. 1, 2025
Citations
0
Molecular Genetics and Metabolism, Journal Year: 2024, Volume and Issue: 142(4), P. 108535 - 108535
Published: July 10, 2024
Mucopolysaccharidoses (MPS) disorders are a group of ultra-rare, inherited, lysosomal storage diseases caused by enzyme deficiencies that result in accumulation glycosaminoglycans (GAGs) cells throughout the body including brain, typically leading to early death. Current treatments do not address progressive cognitive impairment observed patients with neuronopathic MPS disease. The rarity and clinical heterogeneity these as well pre-existing brain disease clinically diagnosed make development new therapeutics utilizing traditional regulatory framework extremely challenging. Children will likely sustain irreversible damage if randomized placebo or standard-of-care treatment arm does United States Food Drug Administration (FDA) recognized challenges, and, 2020, issued final guidance for industry on slowly progressive, low-prevalence, rare substrate deposition from single defects, outlining path generating evidence effectiveness support accelerated approval based reduction [1]. Neuronopathic disorders, which characterized GAG heparan sulfate (HS) fit intended characteristics this was written, but date, has yet been applied any therapeutic candidate MPS. In February 2024, Reagan-Udall Foundation FDA convened public workshop representatives FDA, patient advocacy groups, basic science research, explore case study using cerebrospinal fluid (CSF) HS relevant biomarker disorders. This review provides summary presentations at perspective forward
Language: Английский
Citations
3
Revue Francophone des Laboratoires, Journal Year: 2025, Volume and Issue: 2025(570), P. 47 - 56
Published: March 1, 2025
Citations
0
Biomedical and Biotechnology Research Journal (BBRJ), Journal Year: 2024, Volume and Issue: 8(1), P. 124 - 128
Published: Jan. 1, 2024
Background: Harmine is used in the quantification of glycosaminoglycans (GAGs) for research on mucopolysaccharidoses (MPSs). Although this product commercially available, researchers may consider preparing it under laboratory conditions when unavailable various reasons. This aims to extract harmine from Peganum harmala L . seeds and determine whether can be as a substitute pure GAGs and, consequently, MPS. Methods: P. L. were obtained plant extracted using methanol. The was then spectrophotometric assay controls, including patients known having MPS healthy subjects suspected different types Results: One milligram 1 ml ethanol sufficient produce chromogen that by harmine. exhibits peak absorbance at 510 nm. concordance between two forms reaches 100%, either abnormal values seen or normal those controls. Suspicion lifted investigated patients. allowed accurate reproducible GAGs. Conclusion: study demonstrates reagent same way
Language: Английский
Citations
1
International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(17), P. 9570 - 9570
Published: Sept. 4, 2024
Several years ago, dozens of cases were described in patients with symptoms very similar to mucopolysaccharidosis (MPS). This new disease entity was as mucopolysaccharidosis-plus syndrome (MPSPS). The name the indicates that addition typical conventional MPS, develop other features such congenital heart defects and kidney hematopoietic system disorders. are highly advanced, usually do not survive past second year life. MPSPS is inherited an autosomal recessive manner caused by a homozygous-specific mutation gene encoding VPS33A protein. To date, it has been 41 patients. Patients exhibited excessive excretion glycosaminoglycans (GAGs) urine exceptionally high levels heparan sulfate plasma, but accumulation substrates decrease activity any lysosomal enzymes. Here, we discuss pathomechanisms MPSPS, comparing them those MPS. Moreover, asked question whether should be classified type MPS or separate disease, contrary ‘classical’ types, despite GAG accumulation, no enzymes responsible for degradation these compounds could detected MPSPS. molecular mechanism appearance suggested on basis results available literature.
Language: Английский
Citations
1
Advances in clinical chemistry, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 52
Published: Jan. 1, 2024
Language: Английский
Citations
0